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information | What is (are) craniofacial microsomia ? | Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected. People with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss. Abnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia. Many other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia. |
information | What is (are) Dementia ? | Dementia is the name for a group of symptoms caused by disorders that affect the brain. It is not a specific disease. People with dementia may not be able to think well enough to do normal activities, such as getting dressed or eating. They may lose their ability to solve problems or control their emotions. Their personalities may change. They may become agitated or see things that are not there. Memory loss is a common symptom of dementia. However, memory loss by itself does not mean you have dementia. People with dementia have serious problems with two or more brain functions, such as memory and language. Although dementia is common in very elderly people, it is not part of normal aging. Many different diseases can cause dementia, including Alzheimer's disease and stroke. Drugs are available to treat some of these diseases. While these drugs cannot cure dementia or repair brain damage, they may improve symptoms or slow down the disease. NIH: National Institute of Neurological Disorders and Stroke |
considerations | What to do for Kidney Failure: Choosing a Treatment That's Right for You ? | - You have three treatment options to choose from to filter your blood. A fourth option offers care without replacing the work of the kidneys. - Hemodialysis - Peritoneal dialysis - Kidney transplantation - Conservative management - None of these treatments helps the kidneys get better. However, they all can help you feel better. - Hemodialysis uses a machine to move your blood through a filter outside your body, removing wastes. - Peritoneal dialysis uses the lining of your belly to filter your blood inside your body, removing wastes. - Kidney transplantation is surgery to place a healthy kidney from a person who has just died or a living person, usually a family member, into your body to take over the job of filtering your blood. - Conservative management is the choice not to treat kidney failure with dialysis or a transplant. - All of the treatment options for kidney failure require changes and restrictions in your diet. |
susceptibility | Who is at risk for Heart Failure? ? | Heart failure is more common in - people who are 65 years old or older - African-Americans - people who are overweight - people who have had a heart attack - men. people who are 65 years old or older African-Americans people who are overweight people who have had a heart attack men. Aging can weaken the heart muscle. Older people also may have had diseases for many years that led to heart failure. African Americans are more likely to have heart failure than people of other races. They're also more likely to have symptoms at a younger age, have more hospital visits due to heart failure, and die from heart failure. Excess weight puts strain on the heart. Being overweight also increases your risk of heart disease and type 2 diabetes. These diseases can lead to heart failure. A history of a heart attack puts people at greater risk for heart failure. Men have a higher rate of heart failure than women. |
causes | What causes IgA Nephropathy ? | Scientists think that IgA nephropathy is an autoimmune kidney disease, meaning that the disease is due to the bodys immune system harming the kidneys.
People with IgA nephropathy have an increased blood level of IgA that contains less of a special sugar, galactose, than normal. This galactose-deficient IgA is considered foreign by other antibodies circulating in the blood. As a result, these other antibodies attach to the galactose-deficient IgA and form a clump. This clump is also called an immune complex. Some of the clumps become stuck in the glomerulus of the nephron and cause inflammation and damage.
For some people, IgA nephropathy runs in families. Scientists have recently found several genetic markers that may play a role in the development of the disease. IgA nephropathy may also be related to respiratory or intestinal infections and the immune systems response to these infections. |
prevention | How to prevent Stroke ? | Yes. Stroke is preventable. A better understanding of the causes of stroke has helped people make lifestyle changes that have cut the stroke death rate nearly in half in the last two decades. While family history of stroke plays a role in your risk, there are many risk factors you can control: - If you have high blood pressure, work with your doctor to get it under control. Managing your high blood pressure is the most important thing you can do to avoid stroke. See ways to manage high blood pressure. - If you smoke, quit. See resources to help you quit, including , smoking quitlines, an online quit plan, a quit smoking website for older adults, and mobile apps and free text messaging services. If you have high blood pressure, work with your doctor to get it under control. Managing your high blood pressure is the most important thing you can do to avoid stroke. See ways to manage high blood pressure. If you smoke, quit. See resources to help you quit, including , smoking quitlines, an online quit plan, a quit smoking website for older adults, and mobile apps and free text messaging services. - If you have diabetes, learn how to manage it. Many people do not realize they have diabetes, which is a major risk factor for heart disease and stroke. See ways to manage diabetes every day. - If you are overweight, start maintaining a healthy diet and exercising regularly. See a sensible approach to weight loss. See exercises tailored for older adults. If you have diabetes, learn how to manage it. Many people do not realize they have diabetes, which is a major risk factor for heart disease and stroke. See ways to manage diabetes every day. If you are overweight, start maintaining a healthy diet and exercising regularly. See a sensible approach to weight loss. See exercises tailored for older adults. - If you have high cholesterol, work with your doctor to lower it. A high level of total cholesterol in the blood is a major risk factor for heart disease, which raises your risk of stroke. Learn about lifestyle changes to control cholesterol. If you have high cholesterol, work with your doctor to lower it. A high level of total cholesterol in the blood is a major risk factor for heart disease, which raises your risk of stroke. Learn about lifestyle changes to control cholesterol. |
symptoms | What are the symptoms of Amish infantile epilepsy syndrome ? | What are the signs and symptoms of Amish infantile epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Amish infantile epilepsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hearing impairment 5% Microcephaly 5% Absent speech - Autosomal recessive inheritance - Choreoathetosis - Cortical visual impairment - Developmental regression - Developmental stagnation at onset of seizures - Failure to thrive - Feeding difficulties in infancy - Generalized tonic-clonic seizures - Global brain atrophy - Hyporeflexia of upper limbs - Irritability - Lower limb hyperreflexia - Muscular hypotonia - Myoclonus - Optic atrophy - Status epilepticus - Visual loss - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Deep Vein Thrombosis ? | The signs and symptoms of deep vein thrombosis (DVT) might be related to DVT itself or pulmonary embolism (PE). See your doctor right away if you have signs or symptoms of either condition. Both DVT and PE can cause serious, possibly life-threatening problems if not treated.
Deep Vein Thrombosis
Only about half of the people who have DVT have signs and symptoms. These signs and symptoms occur in the leg affected by the deep vein clot. They include:
Swelling of the leg or along a vein in the leg
Pain or tenderness in the leg, which you may feel only when standing or walking
Increased warmth in the area of the leg that's swollen or painful
Red or discolored skin on the leg
Pulmonary Embolism
Some people aren't aware of a deep vein clot until they have signs and symptoms of PE. Signs and symptoms of PE include:
Unexplained shortness of breath
Pain with deep breathing
Coughing up blood
Rapid breathing and a fast heart rate also may be signs of PE. |
outlook | What is the outlook for Cerebellar Hypoplasia ? | The prognosis is dependent upon the underlying disorder. Some of the disorders that are associated with cerebellar hypoplasia are progressive, which means the condition will worsen over time, and will most likely have a poor prognosis. Other disorders that feature cerebellar hypoplasia are not progressive, such as those that are the result of abnormal brain formation during fetal development, and might have a better outcome. |
prevention | How to prevent Skin Cancer ? | Key Points
- Avoiding risk factors and increasing protective factors may help prevent cancer. - Being exposed to ultraviolet radiation is a risk factor for skin cancer. - It is not known if the following lower the risk of nonmelanoma skin cancer: - Sunscreen use and avoiding sun exposure - Chemopreventive agents - It is not known if the following lower the risk of melanoma: - Sunscreen - Counseling and protecting the skin from the sun - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent skin cancer are being studied in clinical trials.
Avoiding risk factors and increasing protective factors may help prevent cancer.
Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer.
Being exposed to ultraviolet radiation is a risk factor for skin cancer.
Some studies suggest that being exposed to ultraviolet (UV) radiation and the sensitivity of a persons skin to UV radiation are risk factors for skin cancer. UV radiation is the name for the invisible rays that are part of the energy that comes from the sun. Sunlamps and tanning beds also give off UV radiation. Risk factors for nonmelanoma and melanoma cancers are not the same. - Risk factors for nonmelanoma skin cancer: - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Red or blond hair. - Having actinic keratosis. - Past treatment with radiation. - Having a weakened immune system. - Being exposed to arsenic. - Risk factors for melanoma skin cancer: - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Red or blond hair. - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Having a history of many blistering sunburns, especially as a child or teenager. - Having several large or many small moles. - Having a family history of unusual moles (atypical nevus syndrome). - Having a family or personal history of melanoma. - Being white.
It is not known if the following lower the risk of nonmelanoma skin cancer:
Sunscreen use and avoiding sun exposure It is not known if nonmelanoma skin cancer risk is decreased by staying out of the sun, using sunscreens, or wearing protective clothing when outdoors. This is because not enough studies have been done to prove this. Sunscreen may help decrease the amount of UV radiation to the skin. One study found that wearing sunscreen can help prevent actinic keratoses, scaly patches of skin that sometimes become squamous cell carcinoma. The harms of using sunscreen are likely to be small and include allergic reactions to skin creams and lower levels of vitamin D made in the skin because of less sun exposure. It is also possible that when a person uses sunscreen to avoid sunburn they may spend too much time in the sun and be exposed to harmful UV radiation. Although protecting the skin and eyes from the sun has not been proven to lower the chance of getting skin cancer, skin experts suggest the following: - Use sunscreen that protects against UV radiation. - Do not stay out in the sun for long periods of time, especially when the sun is at its strongest. - Wear long sleeve shirts, long pants, sun hats, and sunglasses, when outdoors. Chemopreventive agents Chemoprevention is the use of drugs, vitamins, or other agents to try to reduce the risk of cancer. The following chemopreventive agents have been studied to find whether they lower the risk of nonmelanoma skin cancer: Beta carotene Studies of beta carotene (taken as a supplement in pills) have not shown that it prevents nonmelanoma skin cancer from forming or coming back. Isotretinoin High doses of isotretinoin have been shown to prevent new skin cancers in patients with xeroderma pigmentosum. However, isotretinoin has not been shown to prevent nonmelanoma skin cancers from coming back in patients previously treated for nonmelanoma skin cancers. Treatment with isotretinoin can cause serious side effects. Selenium Studies have shown that selenium (taken in brewer's yeast tablets) does not lower the risk of basal cell carcinoma, and may increase the risk of squamous cell carcinoma. Celecoxib A study of celecoxib in patients with actinic keratosis and a history of nonmelanoma skin cancer found those who took celecoxib had slightly lower rates of recurrent nonmelanoma skin cancers. Celecoxib may have serious side effects on the heart and blood vessels. Alpha-difluoromethylornithine (DFMO) A study of alpha-difluoromethylornithine (DFMO) in patients with a history of nonmelanoma skin cancer showed that those who took DFMO had lower rates of nonmelanoma skin cancers coming back than those who took a placebo. DFMO may cause hearing loss which is usually temporary. Nicotinamide (vitamin B3) Studies have shown that nicotinamide (vitamin B3) helps prevent new actinic keratoses lesions from forming in people who had four or fewer actinic lesions before taking nicotinamide. More studies are needed to find out if nicotinamide prevents nonmelanoma skin cancer from forming or coming back.
It is not known if the following lower the risk of melanoma:
Sunscreen It has not been proven that using sunscreen to prevent sunburn can protect against melanoma caused by UV radiation. Other risk factors such as having skin that burns easily, having a large number of benign moles, or having atypical nevi may also play a role in whether melanoma forms. Counseling and protecting the skin from the sun It is not known if people who receive counseling or information about avoiding sun exposure make changes in their behavior to protect their skin from the sun.
Cancer prevention clinical trials are used to study ways to prevent cancer.
Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements.
New ways to prevent skin cancer are being studied in clinical trials.
Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI Web site. Check NCI's list of cancer clinical trials for nonmelanoma skin cancer prevention trials and melanoma prevention trials that are now accepting patients. |
symptoms | What are the symptoms of Frontofacionasal dysplasia ? | What are the signs and symptoms of Frontofacionasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontofacionasal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia involving the nose 90% Blepharophimosis 90% Broad forehead 90% Cleft eyelid 90% Depressed nasal bridge 90% Depressed nasal ridge 90% Facial cleft 90% Hypertelorism 90% Malar flattening 90% Non-midline cleft lip 90% Ptosis 90% Short nose 90% Short stature 90% Telecanthus 90% Abnormality of calvarial morphology 50% Abnormality of the eyelashes 50% Abnormality of the sense of smell 50% Aplasia/Hypoplasia of the eyebrow 50% Cleft palate 50% Encephalocele 50% Epibulbar dermoid 50% Facial asymmetry 50% Iris coloboma 50% Midline defect of the nose 50% Preauricular skin tag 50% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cataract 7.5% Choanal atresia 7.5% Microcornea 7.5% Sacrococcygeal pilonidal abnormality 7.5% Absent inner eyelashes - Ankyloblepharon - Autosomal recessive inheritance - Bifid nose - Bifid uvula - Brachycephaly - Cranium bifidum occultum - Frontal cutaneous lipoma - Hypoplasia of midface - Hypoplasia of the frontal bone - Microphthalmia - Oral cleft - S-shaped palpebral fissures - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Beare-Stevenson cutis gyrata syndrome ? | What are the signs and symptoms of Beare-Stevenson cutis gyrata syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beare-Stevenson cutis gyrata syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pancreas 90% Acanthosis nigricans 90% Aplasia/Hypoplasia of the earlobes 90% Choanal atresia 90% Depressed nasal bridge 90% Dolichocephaly 90% Hearing abnormality 90% Hypoplasia of the zygomatic bone 90% Macrotia 90% Malar flattening 90% Melanocytic nevus 90% Palmoplantar keratoderma 90% Proptosis 90% Ptosis 90% Reduced number of teeth 90% Respiratory insufficiency 90% Visceral angiomatosis 90% Bifid scrotum 50% Craniosynostosis 50% Abnormality of the nail 7.5% Anteverted nares 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Hydrocephalus 7.5% Hypertelorism 7.5% Hypertension 7.5% Narrow mouth 7.5% Optic atrophy 7.5% Thickened helices 7.5% Umbilical hernia 7.5% Agenesis of corpus callosum - Anteriorly placed anus - Autosomal dominant inheritance - Choanal stenosis - Cloverleaf skull - Hypoplasia of midface - Limited elbow extension - Low-set, posteriorly rotated ears - Narrow palate - Palmoplantar cutis laxa - Preauricular skin furrow - Prominent scrotal raphe - Respiratory distress - Small nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
genetic changes | What are the genetic changes related to fragile XE syndrome ? | Fragile XE syndrome is caused by mutations in the AFF2 gene. This gene provides instructions for making a protein whose function is not well understood. Some studies show that the AFF2 protein can attach (bind) to DNA and help control the activity of other genes. Other studies suggest that the AFF2 protein is involved in the process by which the blueprint for making proteins is cut and rearranged to produce different versions of the protein (alternative splicing). Researchers are working to determine which genes and proteins are affected by AFF2. Nearly all cases of fragile XE syndrome occur when a region of the AFF2 gene, known as the CCG trinucleotide repeat, is abnormally expanded. Normally, this segment of three DNA building blocks (nucleotides) is repeated approximately 4 to 40 times. However, in people with fragile XE syndrome, the CCG segment is repeated more than 200 times, which makes this region of the gene unstable. (When expanded, this region is known as the FRAXE fragile site.) As a result, the AFF2 gene is turned off (silenced), and no AFF2 protein is produced. It is unclear how a shortage of this protein leads to intellectual disability in people with fragile XE syndrome. People with 50 to 200 CCG repeats are said to have an AFF2 gene premutation. Current research suggests that people with a premutation do not have associated cognitive problems. |
information | What is (are) enlarged parietal foramina ? | Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. This condition is due to incomplete bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, ranging in size from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but typically they close before the baby is born, usually by the fifth month of pregnancy. However, in people with this condition, the parietal foramina remain open throughout life. The enlarged parietal foramina are soft to the touch due to the lack of bone at those areas of the skull. People with enlarged parietal foramina usually do not have any related health problems; however, scalp defects, seizures, and structural brain abnormalities have been noted in a small percentage of affected people. Pressure applied to the openings can lead to severe headaches, and individuals with this condition have an increased risk of brain damage or skull fractures if any trauma is experienced in the area of the openings. There are two forms of enlarged parietal foramina, called type 1 and type 2, which differ in their genetic cause. |
information | What is (are) desmoid tumor ? | A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Typically, a single tumor develops, although some people have multiple tumors. The tumors can occur anywhere in the body. Tumors that form in the abdominal wall are called abdominal desmoid tumors; those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors; and tumors found in other regions of the body are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most often in the shoulders, upper arms, and upper legs. Desmoid tumors are fibrous, much like scar tissue. They are generally not considered cancerous (malignant) because they do not spread to other parts of the body (metastasize); however, they can aggressively invade the surrounding tissue and can be very difficult to remove surgically. These tumors often recur, even after apparently complete removal. The most common symptom of desmoid tumors is pain. Other signs and symptoms, which are often caused by growth of the tumor into surrounding tissue, vary based on the size and location of the tumor. Intra-abdominal desmoid tumors can block the bowel, causing constipation. Extra-abdominal desmoid tumors can restrict the movement of affected joints and cause limping or difficulty moving the arms or legs. Desmoid tumors occur frequently in people with an inherited form of colon cancer called familial adenomatous polyposis (FAP). These individuals typically develop intra-abdominal desmoid tumors in addition to abnormal growths (called polyps) and cancerous tumors in the colon. Desmoid tumors that are not part of an inherited condition are described as sporadic. |
frequency | How many people are affected by arrhythmogenic right ventricular cardiomyopathy ? | ARVC occurs in an estimated 1 in 1,000 to 1 in 1,250 people. This disorder may be underdiagnosed because it can be difficult to detect in people with mild or no symptoms. |
considerations | What to do for Kidney Failure: Choosing a Treatment That's Right for You ? | All of the treatment options for kidney failure require changes and restrictions in your diet.
Hemodialysis
Hemodialysis has the most restrictions. You should watch how much water and other liquids you get from food and drinks and avoid getting too much sodium, often from salt; potassium; and phosphorus. You may find it difficult to limit phosphorus because many foods that are high in phosphorus also provide the protein you need. Hemodialysis can remove protein from the body, so you should eat foods with high-quality protein, such as meat, fish, and eggs. Limit your phosphorus by avoiding foods such as beans, peas, nuts, tea, and colas. You may also need to take a pill called a phosphate binder that keeps phosphorus in your food from entering your bloodstream. Talk with your dialysis centers dietitian to find a hemodialysis meal plan that works for you.
More information about nutrition for people who are on hemodialysis is provided in the NIDDK health topic, Eat Right to Feel Right on Hemodialysis.
Peritoneal Dialysis
Like hemodialysis, peritoneal dialysis requires limits on sodium and phosphorus. You may need to take a phosphate binder. The liquid limitations in peritoneal dialysis may not be as strict as those for hemodialysis. In fact, you may need to drink more water and other liquids if your peritoneal dialysis treatments remove too much fluid from your body. Peritoneal dialysis removes potassium from the body, so you may need to eat potassium-rich foods such as potatoes, tomatoes, oranges, and bananas. However, be careful not to eat too much potassium because it can cause an unsteady heartbeat. Peritoneal dialysis removes even more protein than hemodialysis, so eating foods with high-quality protein is important. You may need to limit calories because your body absorbs sugar from the dialysis solution.
Kidney Transplantation
Kidney transplantation has the fewest restrictions on your diet. You should limit sodium because it can raise your blood pressure. Medicines that you take after the transplant can cause you to gain weight, so you may need to limit calories.
Conservative Management
The diet for conservative management limits protein. Protein breaks down into waste products the kidneys must remove. Limiting protein may reduce the amount of work the kidneys have to do so they will last longer.
Hemodialysis Peritoneal Dialysis Kidney Transplantation In Center Home CAPD CCPD Deceased Living Schedule Three treatments a week for 3 to 5 hours or more. More flexibility in determining your schedule of treatments. Four to six exchanges a day, every day. Three to five exchanges a night, every night, with an additional exchange begun first thing in the morning. You may wait several years before a suitable kidney is available. If a friend or family member is donating, you can schedule the operation when you're both ready. After the operation, you'll have regular checkups with your doctor. Location Dialysis center. Home. Any clean environment that allows solution exchanges. The transplant operation takes place in a hospital. Availability Available in most communities; may require travel in some rural areas. Generally available, but not widely used because of equipment requirements. Widely available. Widely available. Transplant centers are located throughout the country. However, the demand for kidneys is far greater than the supply. Equipment and Supplies No equipment or supplies in the home. Hemodialysis machine connected to plumbing; chair. Bags of dialysis solution take up storage space. Cycling machine; bags of dialysis solution. No equipment or supplies needed. Training Required Little training required; clinic staff perform most tasks. You and a helper must attend several training sessions. You'll need to attend several training sessions. You'll need to learn about your medications and when to take them. Diet Must limit fluids, sodium, potassium, and phosphorus. Must limit sodium and calories. Fewer dietary restrictions. Level of Freedom Little freedom during treatments. Greater freedom on non-treatment days. More freedom to set your own schedule. You're still linked to a machine for several hours a week. You can move around, exercise, work, drive, etc., with solution in your abdomen. You're linked to a machine during the night. You're free from exchanges during the day. Offers the greatest amount of freedom. Level of Responsibility Some patients prefer to let clinic staff perform all tasks. You and your helper are responsible for cleaning and setting up equipment and monitoring vital signs. Can be stressful on family helpers. You must perform exchanges four to six times a day, every day. You must set up your cycler every night. You must take immunosuppressants every day for as long as the transplanted kidney functions.
More information about the treatments for kidney failure is provided in the NIDDK health communication program, National Kidney Disease Education Program. |
treatment | What are the treatments for Alagille syndrome ? | These resources address the diagnosis or management of Alagille syndrome: - Boston Children's Hospital - Children's Hospital of Philadelphia - Children's Hospital of Pittsburgh - Gene Review: Gene Review: Alagille Syndrome - Genetic Testing Registry: Alagille syndrome 1 - Genetic Testing Registry: Arteriohepatic dysplasia - MedlinePlus Encyclopedia: Tetralogy of Fallot These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
outlook | What is the outlook for Craniosynostosis ? | The prognosis for craniosynostosis varies depending on whether single or multiple cranial sutures are involved or other abnormalities are present. The prognosis is better for those with single suture involvement and no associated abnormalities. |
treatment | What are the treatments for Buerger disease ? | How is Buerger disease treated? Currently there is not a cure for Buerger disease, however there are treatments that can help control it. The most essential part of treatment is to avoid all tobacco and nicotine products. Even one cigarette a day can worsen the disease. A doctor can help a person with Buerger disease learn about safe medications and programs to combat smoking/nicotine addiction. Continued smoking is associated with an overall amputation rate of 40 to 50 percent. The following treatments may also be helpful, but do not replace smoking/nicotine cessation: Medications to dilate blood vessels and improve blood flow (e.g., intravenous Iloprost) Medications to dissolve blood clots Treatment with calcium channel blockers Walking exercises Intermittent compression of the arms and legs to increase blood flow to your extremities Surgical sympathectomy (a controversial surgery to cut the nerves to the affected area to control pain and increase blood flow) Therapeutic angiogenesis (medications to stimulate growth of new blood vessels) Spinal cord stimulation Amputation, if infection or gangrene occurs |
information | What is (are) Isolated corpus callosum agenesis ? | Agenesis of the corpus callosum (ACC) is a birth defect in which the structure that connects the two sides of the brain (the corpus callosum) is partially or completely absent. This birth defect can occur as an isolated condition or in combination with other abnormalities. The effects of agenesis of the corpus callosum range from subtle or mild to severe, depending on associated brain abnormalities. Treatment usually involves management of symptoms and seizures if they occur. |
prevention | How to prevent Parasites - American Trypanosomiasis (also known as Chagas Disease) ? | In endemic areas of Mexico, Central America, and South America improved housing and spraying insecticide inside housing to eliminate triatomine bugs has significantly decreased the spread of Chagas disease. Further, screening of blood donations for Chagas is another important public health tool in helping to prevent transfusion-acquired disease. Early detection and treatment of new cases, including mother-to-baby (congenital) cases, will also help reduce the burden of disease.
In the United States and in other regions where Chagas disease is now found but is not endemic, control strategies are focused on preventing transmission from blood transfusion, organ transplantation, and mother-to-baby. |
symptoms | What are the symptoms of Brachycephalofrontonasal dysplasia ? | What are the signs and symptoms of Brachycephalofrontonasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachycephalofrontonasal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Highly arched eyebrow 90% Hypertelorism 90% Long philtrum 90% Prominent nasal bridge 90% Thick eyebrow 90% Thin vermilion border 90% Abnormality of periauricular region 50% Abnormality of the helix 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Finger syndactyly 50% Frontal bossing 50% High anterior hairline 50% Low-set, posteriorly rotated ears 50% Ptosis 50% Round face 50% Shawl scrotum 50% Short nose 50% Short toe 50% Umbilical hernia 50% Abnormal localization of kidney 7.5% Advanced eruption of teeth 7.5% Arrhythmia 7.5% Atria septal defect 7.5% Chin dimple 7.5% Female pseudohermaphroditism 7.5% Omphalocele 7.5% Oral cleft 7.5% Patent ductus arteriosus 7.5% Pectus excavatum 7.5% Proptosis 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Ventricular septal defect 7.5% Autosomal dominant inheritance - Broad palm - Depressed nasal bridge - Prominent forehead - Wide nasal bridge - Widow's peak - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
inheritance | Is sporadic hemiplegic migraine inherited ? | Sporadic means that the condition occurs in individuals with no history of the disorder in their family. While most cases result from new (de novo) mutations that likely occur during early embryonic development, some affected individuals inherit the genetic change that causes the condition from an unaffected parent. (When some people with the mutation have no signs and symptoms of the disorder, the condition is said to have reduced penetrance.) Although family members of an affected individual do not have sporadic hemiplegic migraine, some experience migraine headaches without hemiparesis. A related condition, familial hemiplegic migraine, has signs and symptoms identical to those in sporadic hemiplegic migraine but occurs in multiple members of a family. |
inheritance | Is familial thoracic aortic aneurysm and dissection inherited ? | Familial TAAD is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell can be sufficient to cause the condition. In most cases, an affected person has one affected parent. However, some people who inherit an altered gene never develop the aortic abnormalities associated with the condition; this situation is known as reduced penetrance. |
information | What is (are) Pyle disease ? | Pyle disease is a bone disorder characterized by genu valgum (knock knees), Erlenmeyer flask deformity (where there is relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone), widening of the ribs and clavicles (collarbones), platyspondyly (flattening of the bones of the spine) and cortical thinning. Only about 30 cases have been reported in the literature. Cranial involvement is minimal with some showing mild hyperostosis (excessive new bone formation ) of the skull base and thickening of the frontal and occipital bones. Pyle disease is passed through families in an autosomal recessive manner. |
frequency | How many people are affected by nemaline myopathy ? | Nemaline myopathy has an estimated incidence of 1 in 50,000 individuals. |
exams and tests | How to diagnose Hemophilia ? | If you or your child appears to have a bleeding problem, your doctor will ask about your personal and family medical histories. This will reveal whether you or your family members, including women and girls, have bleeding problems. However, some people who have hemophilia have no recent family history of the disease.
You or your child also will likely have a physical exam and blood tests to diagnose hemophilia. Blood tests are used to find out:
How long it takes for your blood to clot
Whether your blood has low levels of any clotting factors
Whether any clotting factors are completely missing from your blood
The test results will show whether you have hemophilia, what type of hemophilia you have, and how severe it is.
Hemophilia A and B are classified as mild, moderate, or severe, depending on the amount of clotting factor VIII or IX in the blood.
The severity of symptoms can overlap between the categories. For example, some people who have mild hemophilia may have bleeding problems almost as often or as severe as some people who have moderate hemophilia.
Severe hemophilia can cause serious bleeding problems in babies. Thus, children who have severe hemophilia usually are diagnosed during the first year of life. People who have milder forms of hemophilia may not be diagnosed until they're adults.
The bleeding problems of hemophilia A and hemophilia B are the same. Only special blood tests can tell which type of the disorder you or your child has. Knowing which type is important because the treatments are different.
Pregnant women who are known hemophilia carriers can have the disorder diagnosed in their unborn babies as early as 12 weeks into their pregnancies.
Women who are hemophilia carriers also can have "preimplantation diagnosis" to have children who don't have hemophilia.
For this process, women have their eggs removed and fertilized by sperm in a laboratory. The embryos are then tested for hemophilia. Only embryos without the disorder are implanted in the womb. |
treatment | What are the treatments for centronuclear myopathy ? | These resources address the diagnosis or management of centronuclear myopathy: - Genetic Testing Registry: Autosomal recessive centronuclear myopathy - Genetic Testing Registry: Myopathy, centronuclear - Genetic Testing Registry: Myopathy, centronuclear, 1 - Genetic Testing Registry: Myopathy, centronuclear, 4 - Genetic Testing Registry: Myopathy, centronuclear, 5 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
information | What is (are) neurohypophyseal diabetes insipidus ? | Neurohypophyseal diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with neurohypophyseal diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected people need to urinate frequently, which can disrupt daily activities and sleep. People with neurohypophyseal diabetes insipidus can quickly become dehydrated if they do not drink enough water. Dehydration can lead to constipation and dry skin. If the disorder is not treated, more serious complications of dehydration can occur. These include confusion, low blood pressure, seizures, and coma. Neurohypophyseal diabetes insipidus can be either acquired or familial. The acquired form is brought on by injuries, tumors, and other factors, and can occur at any time during life. The familial form is caused by genetic mutations; its signs and symptoms usually become apparent in childhood and worsen over time. Neurohypophyseal diabetes insipidus should not be confused with diabetes mellitus, which is much more common. Diabetes mellitus is characterized by high blood sugar levels resulting from a shortage of the hormone insulin or an insensitivity to this hormone. Although neurohypophyseal diabetes insipidus and diabetes mellitus have some features in common, they are separate disorders with different causes. |
inheritance | Is Fraser syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
information | What is (are) Holes in the Heart ? | Holes in the heart are simple congenital (kon-JEN-ih-tal) heart defects. Congenital heart defects are problems with the heart's structure that are present at birth. These defects change the normal flow of blood through the heart.
The heart has two sides, separated by an inner wall called the septum. With each heartbeat, the right side of the heart receives oxygen-poor blood from the body and pumps it to the lungs. The left side of the heart receives oxygen-rich blood from the lungs and pumps it to the body.
The septum prevents mixing of blood between the two sides of the heart. However, some babies are born with holes in the upper or lower septum.
A hole in the septum between the heart's two upper chambers is called an atrial septal defect (ASD). A hole in the septum between the heart's two lower chambers is called a ventricular septal defect (VSD).
ASDs and VSDs allow blood to pass from the left side of the heart to the right side. Thus, oxygen-rich blood mixes with oxygen-poor blood. As a result, some oxygen-rich blood is pumped to the lungs instead of the body.
Over the past few decades, the diagnosis and treatment of ASDs and VSDs have greatly improved. Children who have simple congenital heart defects can survive to adulthood. They can live normal, active lives because their heart defects close on their own or have been repaired. |
information | What is (are) Wilson Disease ? | Wilson disease is a genetic disease that prevents the body from removing extra copper. The body needs a small amount of copper from food to stay healthy; however, too much copper is poisonous. Normally, the liver filters extra copper and releases it into bile. Bile is a fluid made by the liver that carries toxins and wastes out of the body through the gastrointestinal tract. In Wilson disease, the liver does not filter copper correctly and copper builds up in the liver, brain, eyes, and other organs. Over time, high copper levels can cause life-threatening organ damage. |
inheritance | Is 17-beta hydroxysteroid dehydrogenase 3 deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Individuals who are genetically male and have two copies of a mutated gene in each cell are affected by 17-beta hydroxysteroid dehydrogenase 3 deficiency. People with two mutations who are genetically female do not usually experience any signs and symptoms of this disorder. |
information | What is (are) Familial avascular necrosis of the femoral head ? | Avascular necrosis of the femoral head (ANFH) is a degenerative condition which causes the upper ends of the thigh bones (femurs) to break down due to an inadequate blood supply and deficient bone repair. It can lead to pain and limping and cause the legs to be of unequal length. The prevalence of ANFH is unknown but around 15,000 cases are reported each year in the United States, with most cases being associated with mechanical disruption (hip trauma or surgery), hypofibrinolysis (a reduced ability to dissolve clots), steroid use, smoking, alcohol intake, hemoglobinopathies and hyperlipidemia (an increase in the amount of fat - such as cholesterol and triglycerides - in the blood). Familial forms of ANFH appear to be very rare, with only a few families reported in the medical literature. Age of onset in these familial cases ranges from 15-48 years (as opposed to between 3rd to 5th decade of life for other forms of ANFH). Transmission in familial cases is autosomal dominant and mutations in the type II collagen gene (COL2A1) have been detected in affected family members. |
information | What is (are) Electrocardiogram ? | An electrocardiogram (e-lek-tro-KAR-de-o-gram), also called an EKG or ECG, is a simple, painless test that records the heart's electrical activity. To understand this test, it helps to understand how the heart works.
With each heartbeat, an electrical signal spreads from the top of the heart to the bottom. As it travels, the signal causes the heart to contract and pump blood. The process repeats with each new heartbeat.
The heart's electrical signals set the rhythm of the heartbeat. For more detailed information and animations, go to the Health Topics How the Heart Works article.
An EKG shows:
How fast your heart is beating
Whether the rhythm of your heartbeat is steady or irregular
The strength and timing of electrical signals as they pass through each part of your heart
Doctors use EKGs to detect and study many heart problems, such as heart attacks, arrhythmias (ah-RITH-me-ahs), and heart failure. The test's results also can suggest other disorders that affect heart function. |
treatment | What are the treatments for Myelodysplastic/ Myeloproliferative Neoplasm, Unclassifiable ? | Because myelodysplastic /myeloproliferative neoplasm, unclassifiable (MDS/MPN-UC) is a rare disease, little is known about its treatment. Treatment may include the following: - Supportive care treatments to manage problems caused by the disease such as infection, bleeding, and anemia. - Targeted therapy (imatinib mesylate). Check the list of NCI-supported cancer clinical trials that are now accepting patients with myelodysplastic/myeloproliferative neoplasm, unclassifiable. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. |
frequency | How many people are affected by African iron overload ? | African iron overload is common in rural areas of central and southern Africa; up to 10 percent of the population in these regions may be affected. Men seem to be affected more often than women, possibly due to some combination of differences in dietary iron consumption and gender differences in the processing of iron. The prevalence of increased iron stores in people of African descent in other parts of the world is unknown; however, these individuals may be at higher risk of developing mildly increased iron stores than are people of European background. |
inheritance | Is Asperger syndrome inherited ? | Is Asperger syndrome inherited? Autism spectrum disorders including Asperger syndrome sometimes "run in families," but no specific inheritance pattern has been recognized. The condition is likely caused by a combination of genetic and environmental factors, which means that not all people with a genetic predisposition will be affected. A consultation with a genetics professional is recommended for those with specific questions about genetic risks to themselves or family members. |
inheritance | Is Kallmann syndrome inherited ? | How is Kallmann syndrome inherited? Kallmann syndrome (KS) may be inherited in an X-linked recessive, autosomal dominant, or autosomal recessive manner depending on the gene(s) responsible. For example: KS due to mutations in the KAL1 gene (also called the ANOS1 gene), causing Kallmann syndrome 1, is inherited in an X-linked recessive manner. KS due to mutations in the FGFR1, PROKR2, PROK2, CHD7 or FGF8 genes (causing KS types 2, 3, 4, 5 and 6, respectively) is predominantly inherited in an autosomal dominant manner. KS due to mutations in PROKR2 and PROK2 can also be inherited in an autosomal recessive manner. In the majority of people with KS, the family history appears to be negative (the condition occurs sporadically). However, affected people are still at risk to pass the disease-causing mutation(s) on to their children, or to have an affected child. The risk for each child to be affected depends on the genetic cause in the affected person and may be up to 50%. People with personal questions about the genetic cause and inheritance of KS are encouraged to speak with a genetic counselor or other genetics professional. The genetic cause in many cases remains unknown, and a thorough family history should be obtained to understand the mode of inheritance in each family and to aid in genetic testing and counseling. Information about specific features present or absent in all family members can help determine the mode of inheritance present. |
treatment | What are the treatments for C3 glomerulopathy ? | These resources address the diagnosis or management of C3 glomerulopathy: - Gene Review: Gene Review: Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II - Genetic Testing Registry: C3 Glomerulonephritis - Genetic Testing Registry: CFHR5 deficiency - Genetic Testing Registry: CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II - Genetic Testing Registry: Factor H deficiency - Genetic Testing Registry: Mesangiocapillary glomerulonephritis, type II - National Institute of Diabetes and Digestive and Kidney Diseases: Kidney Failure: Choosing a Treatment That's Right for You These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
information | Do you have information about Preconception Care | Summary : If you are trying to have a baby or are just thinking about it, it is not too early to prepare for a safe pregnancy and a healthy baby. You should speak with your healthcare provider about preconception care. Preconception care is care you receive before you get pregnant. It involves finding and taking care of any problems that might affect you and your baby later, like diabetes or high blood pressure. It also involves steps you can take to reduce the risk of birth defects and other problems. For example, you should take folic acid supplements to prevent neural tube defects. By taking action on health issues before pregnancy, you can prevent many future problems for yourself and your baby. Once you're pregnant, you'll get prenatal care until your baby is born. National Center for Birth Defects and Developmental Disabilities |
frequency | How many people are affected by hemophilia ? | The two major forms of hemophilia occur much more commonly in males than in females. Hemophilia A is the most common type of the condition; 1 in 4,000 to 1 in 5,000 males worldwide are born with this disorder. Hemophilia B occurs in approximately 1 in 20,000 newborn males worldwide. |
symptoms | What are the symptoms of Osteoarthropathy of fingers familial ? | What are the signs and symptoms of Osteoarthropathy of fingers familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoarthropathy of fingers familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Brachydactyly syndrome 50% Limitation of joint mobility 50% Abnormality of the metaphyses 7.5% Autosomal dominant inheritance - Broad phalanx - Short phalanx of finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Glomerular Diseases ? | Renal failure is any acute or chronic loss of kidney function and is the term used when some kidney function remains. Total kidney failure, sometimes called end-stage renal disease (ESRD), indicates permanent loss of kidney function. Depending on the form of glomerular disease, renal function may be lost in a matter of days or weeks or may deteriorate slowly and gradually over the course of decades.
Acute Renal Failure
A few forms of glomerular disease cause very rapid deterioration of kidney function. For example, PSGN can cause severe symptoms (hematuria, proteinuria, edema) within 2 to 3 weeks after a sore throat or skin infection develops. The patient may temporarily require dialysis to replace renal function. This rapid loss of kidney function is called acute renal failure (ARF). Although ARF can be life-threatening while it lasts, kidney function usually returns after the cause of the kidney failure has been treated. In many patients, ARF is not associated with any permanent damage. However, some patients may recover from ARF and subsequently develop CKD.
Chronic Kidney Disease
Most forms of glomerular disease develop gradually, often causing no symptoms for many years. CKD is the slow, gradual loss of kidney function. Some forms of CKD can be controlled or slowed down. For example, diabetic nephropathy can be delayed by tightly controlling blood glucose levels and using ACE inhibitors and ARBs to reduce proteinuria and control blood pressure. But CKD cannot be cured. Partial loss of renal function means that some portion of the patient's nephrons have been scarred, and scarred nephrons cannot be repaired. In many cases, CKD leads to total kidney failure.
Total Kidney Failure
To stay alive, a patient with total kidney failure must go on dialysishemodialysis or peritoneal dialysisor receive a new kidney through transplantation. Patients with CKD who are approaching total kidney failure should learn as much about their treatment options as possible so they can make an informed decision when the time comes. With the help of dialysis or transplantation, many people continue to lead full, productive lives after reaching total kidney failure. |
inheritance | Is oral-facial-digital syndrome inherited ? | Oral-facial-digital syndrome type I is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of OFD1 protein and other cells produce none. The resulting overall reduction in the amount of this protein leads to the signs and symptoms of oral-facial-digital syndrome type I. In males (who have only one X chromosome), mutations result in a total loss of the OFD1 protein. A lack of this protein is usually lethal very early in development, so very few males are born with oral-facial-digital syndrome type I. Affected males usually die before birth, although a few have lived into early infancy. Most of the other forms of oral-facial-digital syndrome are inherited in an autosomal recessive pattern, which suggests that both copies of a causative gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
symptoms | What are the symptoms of Antisynthetase syndrome ? | What are the signs and symptoms of Antisynthetase syndrome? The signs and symptoms of antisynthetase syndrome vary but may include: Fever Loss of appetite Weight loss Muscle inflammation (myositis) Inflammation of multiple joints (polyarthritis) Interstitial lung disease (causing shortness of breath, coughing, and/or dysphagia) Mechanic's hands (thickened skin of tips and margins of the fingers) Raynaud phenomenon Some studies suggest that affected people may be at an increased risk for various types of cancer, as well. The Human Phenotype Ontology provides the following list of signs and symptoms for Antisynthetase syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autoimmunity 90% Chest pain 90% Muscle weakness 90% Myalgia 90% Myositis 90% Pulmonary fibrosis 90% Respiratory insufficiency 90% Restrictive lung disease 90% Abnormality of temperature regulation 50% Acrocyanosis 50% Dry skin 50% Edema 50% EMG abnormality 50% Keratoconjunctivitis sicca 50% Lack of skin elasticity 50% Muscular hypotonia 50% Xerostomia 50% Abnormality of the aortic valve 7.5% Abnormality of the myocardium 7.5% Abnormality of the voice 7.5% Chondrocalcinosis 7.5% Feeding difficulties in infancy 7.5% Joint dislocation 7.5% Neoplasm 7.5% Pruritus 7.5% Pulmonary hypertension 7.5% Recurrent respiratory infections 7.5% Skin rash 7.5% Telangiectasia of the skin 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Human T-cell leukemia virus type 1 ? | What are the signs and symptoms of human T-cell leukemia virus, type 1? Human T-cell leukemia virus, type 1 (HTLV-1) generally causes no signs or symptoms. However, some affected people may later develop adult T-cell leukemia (ATL), HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) or other medical conditions. Approximately 2-5% of people with HTLV-1 will develop ATL, a cancer of the T-cells (a type of white blood cell). The signs and symptoms of this condition and the disease progression vary from person to person. Affected people may have the following features: Fatigue Lymphadenopathy (swollen lymph nodes) Thirst Nausea and vomiting Fever Skin and bone abnormalities Enlarged liver and/or spleen Frequent infections Roughly .25-2% of people with HTLV-1 will develop HAM/TSP, a chronic, progressive disease of the nervous system. Signs and symptoms of this condition vary but may include: Progressive weakness Stiff muscles Muscle spasms Backache 'Weak' bladder Constipation |
treatment | What are the treatments for acute promyelocytic leukemia ? | These resources address the diagnosis or management of acute promyelocytic leukemia: - American Cancer Society: Diagnosis of Acute Myeloid Leukemia - American Cancer Society: Treatment of Acute Promyelocytic (M3) Leukemia - Genetic Testing Registry: Acute promyelocytic leukemia - MedlinePlus Encyclopedia: Acute Myeloid Leukemia - National Cancer Institute: Adult Acute Myeloid Leukemia Treatment - National Cancer Institute: Leukemia - National Heart Lung and Blood Institute: Bone Marrow Tests These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
considerations | What to do for Whipple Disease ? | - Whipple disease is a rare bacterial infection that primarily affects the small intestine. Left untreated, Whipple disease gets worse and is usually life threatening. - Bacteria called Tropheryma whipplei (T. whipplei) cause Whipple disease. T. whipplei infection can cause internal sores, also called lesions, and thickening of tissues in the small intestine. - Anyone can get Whipple disease. However, it is more common in Caucasian men between 40 and 60 years old. - Signs and symptoms of Whipple disease can vary widely from person to person. The most common symptoms of Whipple disease are - diarrhea - weight loss caused by malabsorption - People with Whipple disease may have complications caused by malnutrition, which is due to damaged villi in the small intestine. - The health care provider prescribes antibiotics to destroy the T. whipplei bacteria and treat Whipple disease. - The health care provider usually prescribes intravenous (IV) antibiotics for the first 2 weeks of treatment. Most patients feel relief from symptoms within the first week or two. - After a patient completes the IV antibiotics, the health care provider will prescribe long-term oral antibiotics. - Most patients have good outcomes with an early diagnosis and complete treatment. |
treatment | What are the treatments for Neurofibromatosis type 1 ? | How might neurofibromatosis type 1 be treated? The treatment of neurofibromatosis type 1 (NF1) is based on the signs and symptoms present in each person. There is currently no way to prevent or stop the growth of the tumors associated with NF1. Neurofibromas located on or just below the skin that are disfiguring or irritating may be surgically removed. Malignant peripheral nerve sheath tumors are generally treated with complete surgical excision (when possible) although some cases may require the addition of chemotherapy and/or radiation therapy. Most optic gliomas associated with NF1 do not cause any symptoms and therefore, do not require treatment; however, optic gliomas that threaten vision may be treated with surgery and/or chemotherapy. Surgery may also be recommended to correct some of the bone malformations (such as scoliosis) associated with NF1. GeneReview's Web site offers more specific information regarding the treatment and management of NF1. Please click on the link to access this resource. |
treatment | What are the treatments for X-linked hypophosphatemia ? | How might X-linked hypophosphatemia be treated? X-linked hypophosphatemia is different from other types of rickets because it cannot be treated by increasing vitamin D alone. Phosphate supplementation is generally required and is typically combined with a high dose of calcitriol, the activated form of vitamin D. Calcitriol increases calcium levels by promoting calcium absorption in the intestines, and calcium retention in kidneys. In children, treatment is usually initiated at the time of diagnosis and continues until bone growth is complete. The amount of phosphate and calcitriol are carefully monitored and adjusted to prevent the accumulation of calcium in the blood and kidneys, as these effects can harm the kidneys and other tissues. Hyperparathyroidism, an endocrine disorder characterized by weakness and fatigue, can also occur as a result of treatment, and doses may be modified to manage this secondary complication. The main treatment goal for adults is to help improve pain. As such, treatment duration and dosage vary based on individual needs. Other treatment options may include administration of growth hormones to improve short-term growth in children. Corrective surgery may be necessary to fix leg curvatures for children whose diagnosis was delayed, or whose initial treatment was not adequate. Additionally, skull abnormalities may require treatment for synostosis (premature closing of sutures in the brain). Spontaneous abscesses in the mouth may require dental procedures periodically. Recent clinical trials have investigated the potential of a new therapeutic antibody that inhibits fibroblast growth factor 23 (FGF23), a circulating hormone that causes phosphate wasting in the kidneys and is usually found in at high concentrations in people with XLH. These trials are ongoing, and more information can be found at clinicaltrials.gov. |
genetic changes | What are the genetic changes related to Treacher Collins syndrome ? | Mutations in the TCOF1, POLR1C, or POLR1D gene can cause Treacher Collins syndrome. TCOF1 gene mutations are the most common cause of the disorder, accounting for 81 to 93 percent of all cases. POLR1C and POLR1D gene mutations cause an additional 2 percent of cases. In individuals without an identified mutation in one of these genes, the genetic cause of the condition is unknown. The proteins produced from the TCOF1, POLR1C, and POLR1D genes all appear to play important roles in the early development of bones and other tissues of the face. These proteins are involved in the production of a molecule called ribosomal RNA (rRNA), a chemical cousin of DNA. Ribosomal RNA helps assemble protein building blocks (amino acids) into new proteins, which is essential for the normal functioning and survival of cells. Mutations in the TCOF1, POLR1C, or POLR1D gene reduce the production of rRNA. Researchers speculate that a decrease in the amount of rRNA may trigger the self-destruction (apoptosis) of certain cells involved in the development of facial bones and tissues. The abnormal cell death could lead to the specific problems with facial development found in Treacher Collins syndrome. However, it is unclear why the effects of a reduction in rRNA are limited to facial development. |
susceptibility | Who is at risk for Bile Duct Cancer (Cholangiocarcinoma)? ? | Having colitis or certain liver diseases can increase the risk of bile duct cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. People who think they may be at risk should discuss this with their doctor. Risk factors for bile duct cancer include the following conditions: - Primary sclerosing cholangitis (a progressive disease in which the bile ducts become blocked by inflammation and scarring). - Chronic ulcerative colitis. - Cysts in the bile ducts (cysts block the flow of bile and can cause swollen bile ducts, inflammation, and infection). - Infection with a Chinese liver fluke parasite. |
symptoms | What are the symptoms of Acrofacial dysostosis Catania type ? | What are the signs and symptoms of Acrofacial dysostosis Catania type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrofacial dysostosis Catania type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Abnormality of the philtrum 90% Brachydactyly syndrome 90% Cognitive impairment 90% Finger syndactyly 90% High forehead 90% Hypoplasia of the zygomatic bone 90% Microcephaly 90% Short nose 90% Short palm 90% Short stature 90% Abnormality of periauricular region 50% Cryptorchidism 50% Delayed skeletal maturation 50% Intrauterine growth retardation 50% Low-set, posteriorly rotated ears 50% Single transverse palmar crease 50% Clinodactyly of the 5th finger 7.5% Coarse hair 7.5% Displacement of the external urethral meatus 7.5% Facial cleft 7.5% Hernia of the abdominal wall 7.5% Pectus excavatum 7.5% Premature birth 7.5% Reduced number of teeth 7.5% Spina bifida occulta 7.5% Webbed neck 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
considerations | What to do for Short Bowel Syndrome ? | Researchers have not found that eating, diet, and nutrition play a role in causing or preventing short bowel syndrome. |
treatment | What are the treatments for Behet disease ? | These resources address the diagnosis or management of Behet disease: - American Behcet's Disease Association: Diagnosis - American Behcet's Disease Association: Treatments - Genetic Testing Registry: Behcet's syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
inheritance | Is fragile X-associated tremor/ataxia syndrome inherited ? | An increased risk of developing FXTAS is inherited in an X-linked dominant pattern. The FMR1 gene is located on the X chromosome, one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant because one copy of the altered gene in each cell is sufficient to elevate the risk of developing FXTAS. In females (who have two X chromosomes), a mutation in one of the two copies of the FMR1 gene in each cell can lead to the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell can result in the disorder. However, not all people who inherit an FMR1 premutation will develop FXTAS. In X-linked dominant disorders, males typically experience more severe symptoms than females. Fewer females than males develop FXTAS because the X chromosome that contains the premutation may be turned off (inactive) due to a process called X-inactivation. Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in somatic cells (cells other than egg and sperm cells). X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Usually X-inactivation occurs randomly, so that each X chromosome is active in about half the body's cells. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells. When X-inactivation does not occur randomly, it is called skewed X-inactivation. Researchers suspect that the distribution of active and inactive X chromosomes may help determine the severity of FXTAS in females or whether they develop signs and symptoms of the condition. |
symptoms | What are the symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ? | What are the signs and symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Arthralgia 90% Hepatomegaly 90% Hyperostosis 90% Limitation of joint mobility 90% Lipoatrophy 90% Skin rash 90% Splenomegaly 90% Clubbing of toes 50% Hyperhidrosis 50% Increased antibody level in blood 50% Lymphadenopathy 50% Muscle weakness 50% Skeletal muscle atrophy 50% Abnormal nasal morphology 7.5% Abnormal pyramidal signs 7.5% Abnormality of the tongue 7.5% Arachnodactyly 7.5% Arrhythmia 7.5% Cardiomegaly 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Macrotia 7.5% Microcytic anemia 7.5% Respiratory insufficiency 7.5% Thick lower lip vermilion 7.5% Seizures 5% Short stature 5% Adipose tissue loss - Autosomal recessive inheritance - Basal ganglia calcification - Bone pain - Camptodactyly of finger - Clubbing of fingers - Conjunctivitis - Elbow flexion contracture - Elevated erythrocyte sedimentation rate - Elevated hepatic transaminases - Episcleritis - Erythema - Failure to thrive - Flexion contracture of toe - Hyperpigmentation of the skin - Hypertriglyceridemia - Intellectual disability, mild - Large eyes - Lipodystrophy - Long fingers - Macroglossia - Osteopenia - Panniculitis - Prominent nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Microcephalic osteodysplastic primordial dwarfism type 1 ? | What are the signs and symptoms of Microcephalic osteodysplastic primordial dwarfism type 1? Individuals with MOPD1 may have low birth weight, growth retardation, short limbs, broad hands, small head size (microcephaly), abnormal bone growth (skeletal dysplasia) and a distinct facial appearance. Facial characteristics may include a sloping forehead; protruding eyes; prominent nose with a flat nasal bridge; and small jaw (micrognathia). In addition, babies with MOPD1 may experience short episodes of stopped breathing (apnea) and seizures. Affected individuals also commonly have sparse hair and eyebrows; dry skin; dislocation of the hips or elbows; and intellectual disability. Brain abnormalities that have been reported include lissencephaly, hypoplastic (underdeveloped) frontal lobes, and agenesis of the corpus callosum or cerebellar vermis (the nerve tissue that connects the two halves of the cerebellum). The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic osteodysplastic primordial dwarfism type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormal hair quantity 90% Abnormal nasal morphology 90% Abnormal vertebral ossification 90% Abnormality of calcium-phosphate metabolism 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the clavicle 90% Abnormality of the distal phalanx of finger 90% Abnormality of the eyelashes 90% Abnormality of the femur 90% Abnormality of the intervertebral disk 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Abnormality of the upper urinary tract 90% Aplasia/Hypoplasia of the eyebrow 90% Brachydactyly syndrome 90% Cognitive impairment 90% Convex nasal ridge 90% Delayed skeletal maturation 90% Glaucoma 90% Hypertonia 90% Intrauterine growth retardation 90% Large hands 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Micromelia 90% Premature birth 90% Prominent occiput 90% Proptosis 90% Reduced bone mineral density 90% Respiratory insufficiency 90% Seizures 90% Short neck 90% Short stature 90% Single transverse palmar crease 90% Abnormality of the tragus 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Dolichocephaly 50% Hypoplasia of the zygomatic bone 50% Sloping forehead 50% Thick lower lip vermilion 50% Thickened nuchal skin fold 50% 11 pairs of ribs - Abnormality of the pinna - Absent knee epiphyses - Agenesis of cerebellar vermis - Agenesis of corpus callosum - Atria septal defect - Autosomal recessive inheritance - Bowed humerus - Cleft vertebral arch - Coarctation of aorta - Disproportionate short stature - Dry skin - Elbow dislocation - Elbow flexion contracture - Enlarged metaphyses - Failure to thrive - Femoral bowing - Heterotopia - Hip contracture - Hip dislocation - Hyperkeratosis - Hypoplasia of the frontal lobes - Hypoplastic ilia - Intellectual disability - Knee flexion contracture - Long clavicles - Long foot - Low-set ears - Micropenis - Microtia - Oligohydramnios - Pachygyria - Platyspondyly - Prolonged neonatal jaundice - Prominent nose - Renal cyst - Renal hypoplasia - Short femur - Short humerus - Short metacarpal - Shoulder flexion contracture - Small anterior fontanelle - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Stillbirth - Tetralogy of Fallot - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes Townes-Brocks syndrome ? | What causes Townes-Brocks syndrome? Townes-Brocks syndrome is caused by mutations in the SALL1 gene. This gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. SALL proteins act as transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes. Some mutations in the SALL1 gene lead to the production of an abnormally short version of the SALL1 protein that malfunctions within the cell. Other mutations prevent one copy of the gene in each cell from making any protein. It is unclear how these genetic changes disrupt normal development and cause the symptoms associated with Townes-Brocks syndrome. |
inheritance | Is Crouzonodermoskeletal syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. More commonly, this condition results from new mutations in the gene. These cases occur in people with no history of the disorder in their family. |
treatment | What are the treatments for congenital neuronal ceroid lipofuscinosis ? | These resources address the diagnosis or management of congenital neuronal ceroid lipofuscinosis: - Genetic Testing Registry: Neuronal ceroid lipofuscinosis, congenital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
information | What is (are) Obesity ? | Obesity means having too much body fat. It is different from being overweight, which means weighing too much. The weight may come from muscle, bone, fat, and/or body water. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. Obesity occurs over time when you eat more calories than you use. The balance between calories-in and calories-out differs for each person. Factors that might affect your weight include your genetic makeup, overeating, eating high-fat foods, and not being physically active. Being obese increases your risk of diabetes, heart disease, stroke, arthritis, and some cancers. If you are obese, losing even 5 to 10 percent of your weight can delay or prevent some of these diseases. For example, that means losing 10 to 20 pounds if you weigh 200 pounds. NIH: National Institute of Diabetes and Digestive and Kidney Diseases |
symptoms | What are the symptoms of Spinal muscular atrophy type 1 with congenital bone fractures ? | What are the signs and symptoms of Spinal muscular atrophy type 1 with congenital bone fractures? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy type 1 with congenital bone fractures. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acute infantile spinal muscular atrophy - Autosomal recessive inheritance - Multiple prenatal fractures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
treatment | What are the treatments for Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis ? | Early diagnosis is essential for effective treatment of Acanthamoeba keratitis. Several prescription eye medications are available for treatment. However, the infection can be difficult to treat. The best treatment regimen for each patient should be determined by an eye doctor. If you suspect your eye may be infected with Acanthamoeba, see an eye doctor immediately.
Skin infections that are caused by Acanthamoeba but have not spread to the central nervous system can be successfully treated. Because this is a serious infection and the people affected typically have weakened immune systems, early diagnosis offers the best chance at cure.
Most cases of brain and spinal cord infection with Acanthamoeba (Granulomatous Amebic Encephalitis) are fatal. |
frequency | How many people are affected by Pallister-Killian mosaic syndrome ? | Pallister-Killian mosaic syndrome appears to be a rare condition, although its exact prevalence is unknown. This disorder may be underdiagnosed because it can be difficult to detect in people with mild signs and symptoms. As a result, most diagnoses are made in children with more severe features of the disorder. More than 150 people with Pallister-Killian mosaic syndrome have been reported in the medical literature. |
causes | What causes Pigmented purpuric eruption ? | What causes pigmented purpuric eruption? The cause of pigmented purpuric eruption is unknown. Occasionally, it occurs as a reaction to a medication, food additive, viral infection or following exercise. In rare cases, there appears to be a genetic component. |
information | What is (are) What I need to know about Bladder Control for Women ? | Talking about bladder control problems is not easy for some people. You may feel embarrassed to tell your doctor. But talking about the problem is the first step in finding an answer. Also, you can be sure your doctor has heard it all before. You will not shock or embarrass your doctor or nurse.
Medical History
You can prepare for your visit to the doctor's office by gathering the information your doctor will need to understand your problem. Make a list of the medicines you are taking. Include prescription medicines and those you buy over the counter, like aspirin or antacid. List the fluids you drink regularly, including sodas, coffee, tea, and alcohol. Tell the doctor how much of each drink you have in an average day.
Finding a Doctor
You will need to find a doctor who is skilled in helping women with urine leakage. If your primary doctor shrugs off your problem as normal aging, for example, ask for a referral to a specialist-a urogynecologist or a urologist who specializes in treating female urinary problems. You may need to be persistent, or you may need to look to organizations to help locate a doctor in your area. See For More Information for a list of organizations.
Make a note of any recent surgeries or illnesses you have had. Let the doctor know how many children you have had. These events may or may not be related to your bladder control problem.
Finally, keep track of the times when you have urine leakage. Note what you were doing at the time. Were you coughing, laughing, sneezing, or exercising? Did you have an uncontrollable urge to urinate when you heard running water?
You can use What Your Doctor Needs to Know (Item A) and Your Daily Bladder Diary (Item B) to prepare for your appointment.
Physical Exam
The doctor will give you a physical exam to look for any health issues that may be causing your bladder control problem. Checking your reflexes can show possible nerve damage. You will give a urine sample so the doctor can check for a urinary tract infection. For women, the exam may include a pelvic exam. Tests may also include taking an ultrasound picture of your bladder. Or the doctor may examine the inside of your bladder using a cystoscope, a long, thin tube that slides up into the bladder through the urethra.
Bladder Function Tests
Any medical test can be uncomfortable. Bladder testing may sound embarrassing, but the health professionals who perform the tests will try to make you feel comfortable and give you as much privacy as possible. |
inheritance | Is frontotemporal dementia with parkinsonism-17 inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. |
treatment | What are the treatments for Warsaw breakage syndrome ? | These resources address the diagnosis or management of Warsaw breakage syndrome: - Centers for Disease Control and Prevention: Hearing Loss in Children - Genetic Testing Registry: Warsaw breakage syndrome - MedlinePlus Encyclopedia: Hearing Loss--Infants These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
frequency | How many people are affected by spastic paraplegia type 11 ? | Over 100 cases of spastic paraplegia type 11 have been reported. Although this condition is thought to be rare, its exact prevalence is unknown. |
treatment | What are the treatments for Klinefelter syndrome ? | How might Klinefelter syndrome be treated? Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. When a diagnosis is made, treatment is based on the signs and symptoms present in each person. This may include: Educational interventions - As children, many people with Klinefelter syndrome qualify for special services to help them in school. Teachers can also help by using certain methods in the classroom, such as breaking bigger tasks into small steps. Therapeutic options - A variety of therapists, such as physical, speech, occupational, behavioral, mental health, and family therapists can often help reduce or eliminate some of the symptoms of Klinefelter syndrome such as poor muscle tone; speech and language problems; or low self-confidence. Medical management - About half of people with KS have low testosterone levels, which may be raised by taking supplemental testosterone. Having a more normal testosterone level can help affected people develop bigger muscles, a deeper voice, and facial and body hair. Many healthcare providers recommend testosterone therapy when a boy reaches puberty. However, not all males with KS benefit from testosterone therapy. Some affected people may opt to have breast removal or reduction surgery. The Eunice Kennedy Shriver National Institute of Child Health and Human Development's Web site offers more specific information on the treatment and management of Klinefelter syndrome. Please click on the link to access this resource. |
information | What is (are) retinoblastoma ? | Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color. In most children with retinoblastoma, the disease affects only one eye. However, one out of three children with retinoblastoma develops cancer in both eyes. The most common first sign of retinoblastoma is a visible whiteness in the pupil called "cat's eye reflex" or leukocoria. This unusual whiteness is particularly noticeable in photographs taken with a flash. Other signs and symptoms of retinoblastoma include crossed eyes or eyes that do not point in the same direction (strabismus); persistent eye pain, redness, or irritation; and blindness or poor vision in the affected eye(s). Retinoblastoma is often curable when it is diagnosed early. However, if it is not treated promptly, this cancer can spread beyond the eye to other parts of the body. This advanced form of retinoblastoma can be life-threatening. When retinoblastoma is associated with a gene mutation that occurs in all of the body's cells, it is known as germinal retinoblastoma. People with this form of retinoblastoma also have an increased risk of developing several other cancers outside the eye. Specifically, they are more likely to develop a cancer of the pineal gland in the brain (pinealoma), a type of bone cancer known as osteosarcoma, cancers of soft tissues such as muscle, and an aggressive form of skin cancer called melanoma. |
exams and tests | How to diagnose Parasites - Enterobiasis (also known as Pinworm Infection) ? | A person infected with pinworm is often asymptomatic, but itching around the anus is a common symptom. Diagnosis of pinworm can be reached from three simple techniques. The first option is to look for the worms in the perianal reqion 2 to 3 hours after the infected person is asleep. The second option is to touch the perianal skin with transparent tape to collect possible pinworm eggs around the anus first thing in the morning. If a person is infected, the eggs on the tape will be visible under a microscope. The tape method should be conducted on 3 consecutive mornings right after the infected person wakes up and before he/she does any washing. Since anal itching is a common symptom of pinworm, the third option for diagnosis is analyzing samples from under fingernails under a microscope. An infected person who has scratched the anal area may have picked up some pinworm eggs under the nails that could be used for diagnosis.
Since pinworm eggs and worms are often sparse in stool, examining stool samples is not recommended. Serologic tests are not available for diagnosing pinworm infections. |
treatment | What are the treatments for spinocerebellar ataxia type 2 ? | These resources address the diagnosis or management of SCA2: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 2 - Genetic Testing Registry: Spinocerebellar ataxia 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
treatment | What are the treatments for Best vitelliform macular dystrophy ? | How might Best vitelliform macular dystrophy be treated? There is no specific treatment for Best vitelliform macular dystrophy (BVMD) at this time. Low vision aids help affected people with significant loss of visual acuity. Laser photocoagulation, photodynamic therapy, and anti-VEGF (vascular endothelial growth factor) agents such as bevacizumab have shown limited success in treating some of the secondary features of BVMD such as choroidal neovascularization (when abnormal blood vessels grow under the macula and retina). |
research | what research (or clinical trials) is being done for Microcephaly ? | The National Institute of Neurological Disorders and Stroke (NINDS), one of several institutes of the National Institutes of Health (NIH), conducts and funds research aimed at understanding normal brain development, as well as disease-related disorders of the brain and nervous system. Other NIH institutes and centers also support research on disorders that may affect development. Among several projects, scientists are studying genetic mechanisms and identifying novel genes involved with brain development. Animal models are helping scientists to better understand the pathology of human disease, and to discover how the sizes of tissues and organs are impacted by developmental variability. Other researchers hope to gain a better understanding of normal brain development and the molecular and cellular mechanisms of microcephaly. |
symptoms | What are the symptoms of Pterygium of the conjunctiva and cornea ? | What are the signs and symptoms of Pterygium of the conjunctiva and cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium of the conjunctiva and cornea. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Opacification of the corneal stroma 50% Abnormality of the conjunctiva - Autosomal dominant inheritance - Pterygium - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
complications | What are the complications of Henoch-Schnlein Purpura ? | In children, the risk of kidney damage leading to long-term problems may be as high as 15 percent, but kidney failure affects only about 1 percent of children with HSP.1 Up to 40 percent of adults with HSP will have CKD or kidney failure within 15 years after diagnosis.3
A rare complication of HSP is intussusception of the bowel, which includes the small and large intestines. With this condition, a section of the bowel folds into itself like a telescope, causing the bowel to become blocked.
Women with a history of HSP who become pregnant are at higher risk for high blood pressure and proteinuria during pregnancy. |
symptoms | What are the symptoms of Grubben de Cock Borghgraef syndrome ? | What are the signs and symptoms of Grubben de Cock Borghgraef syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Grubben de Cock Borghgraef syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of eye movement 90% Blue sclerae 90% Cognitive impairment 90% Deviation of finger 90% Dry skin 90% Eczema 90% Muscular hypotonia 90% Round face 90% Seizures 90% Short neck 90% Short palm 90% Autosomal recessive inheritance - Delayed speech and language development - Intrauterine growth retardation - Microdontia - Partial agenesis of the corpus callosum - Postnatal growth retardation - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Listeria Infections ? | Listeriosis is a foodborne illness caused by Listeria monocytogenes, bacteria found in soil and water. It can be in a variety of raw foods as well as in processed foods and foods made from unpasteurized milk. Listeria is unlike many other germs because it can grow even in the cold temperature of the refrigerator. Symptoms include fever and chills, headache, upset stomach and vomiting. Treatment is with antibiotics. Anyone can get the illness. But it is most likely to affect pregnant women and unborn babies, older adults, and people with weak immune systems. To reduce your risk - Use precooked and ready-to-eat foods as soon as you can - Avoid raw milk and raw milk products - Heat ready-to-eat foods and leftovers until they are steaming hot - Wash fresh fruits and vegetables - Avoid rare meat and refrigerated smoked seafood Centers for Disease Control and Prevention |
information | What is (are) Neurodegeneration with Brain Iron Accumulation ? | Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. Symptoms, which vary greatly among patients and usually develop during childhood, may include dystonia (slow writhing, distorting muscle contractions of the limbs, face, or trunk), dysarthria (slurred or slow speech) choreoathetosis (involuntary, purposeless jerky muscle movements), muscle rigidity (uncontrolled tightness of the muscles), spasticity (sudden, involuntary muscle spasms), and/or ataxia (inability to coordinate movements), confusion, disorientation, seizures, stupor, and dementia. Visual changes are also common, most often due to atrophy of the optic nerve (optic atrophy) or degeneration of the retinal layer in the back of the eye (retinal degeneration Cognitive decline occurs in some forms of NBIA; the majority of individuals with NBIA do not have cognitive impairment. Several genes have been found that cause NBIA. |
information | What is (are) Inflammatory myofibroblastic tumor ? | An inflammatory myofibroblastic tumor (IMT) is an uncommon, presumably benign (non-cancerous) tumor made up of cells called myofibroblastic spindle cells. It usually develops in children or young adults, but can affect people of any age. An IMT can occur in almost any part of the body but is most commonly found in the lung, orbit (eye socket), peritoneum (lining of the abdominal cavity and internal organs), and mesentery. Signs and symptoms vary depending on the site of the tumor. Some people with an IMT are asymptomatic, while others may have nonspecific respiratory symptoms, fever, or pain. IMTs may recur, and occasionally become locally invasive and/or spread (metastasize) to other parts of the body. The underlying cause of IMTs is poorly understood. Some cases have been linked to translocations involving the ALK gene. Treatment involves surgical removal when possible, although there are reports of treatment with oral steroids and radiation therapy. |
genetic changes | What are the genetic changes related to VACTERL association ? | VACTERL association is a complex condition that may have different causes in different people. In some people, the condition is likely caused by the interaction of multiple genetic and environmental factors. Some possible genetic and environmental influences have been identified and are being studied. The developmental abnormalities characteristic of VACTERL association develop before birth. The disruption to fetal development that causes VACTERL association likely occurs early in development, resulting in birth defects that affect multiple body systems. It is unclear why the features characteristic of VACTERL association group together in affected individuals. |
frequency | How many people are affected by blepharophimosis, ptosis, and epicanthus inversus syndrome ? | The prevalence of BPES is unknown. |
frequency | How many people are affected by REN-related kidney disease ? | REN-related kidney disease is a rare condition. At least three families with this condition have been identified. |
frequency | How many people are affected by Mabry syndrome ? | Mabry syndrome is likely a rare condition, but its prevalence is unknown. More than 20 cases have been described in the scientific literature. |
information | What is (are) Alzheimer's Caregiving ? | Alzheimers disease is an illness of the brain. It causes large numbers of nerve cells in the brain to die. This affects a persons ability to remember things and think clearly. People with Alzheimers become forgetful and easily confused and may have a hard time concentrating. They may have trouble taking care of themselves and doing basic things like making meals, bathing, and getting dressed. Alzheimers varies from person to person. It can progress faster in some people than in others, and not everyone will have the same symptoms. In general, though, Alzheimers takes many years to develop, becoming increasingly severe over time. As the disease gets worse, people need more help. Eventually, they require total care. For a short overview of Alzheimers, see Understanding Alzheimers Disease: What You Need to Know. |
considerations | What to do for What I need to know about Hepatitis A ? | - Hepatitis A is a virus, or infection, that causes inflammation of the liver. - Anyone can get hepatitis A, but some people are more likely to than others. - You could get hepatitis A through contact with an infected persons stool. - Most people do not have any symptoms of hepatitis A. - Children younger than age 6 may have no symptoms of hepatitis A. - Hepatitis A may cause mild, flulike symptoms in older children and adults. - See a doctor right away if you or a child in your care has symptoms of hepatitis A. - A blood test will show if you have hepatitis A. - Hepatitis A usually gets better in a few weeks without treatment. - You can avoid getting hepatitis A by receiving the hepatitis A vaccine. - Tell your doctor and your dentist if you have hepatitis A. - See your doctor right away if you think you have been in contact with the hepatitis A virus. |
inheritance | Is Madelung disease inherited ? | Is Madelung disease inherited? Although the exact cause of Madelung disease is unknown, most cases are not thought to be inherited. However, more than one family member can occasionally be affected by this condition which suggests that it may be inherited in rare cases. In the majority of these families, the mode of inheritance has not been determined. However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body. |
treatment | What are the treatments for Dubin-Johnson syndrome ? | These resources address the diagnosis or management of Dubin-Johnson syndrome: - Genetic Testing Registry: Dubin-Johnson syndrome - MedlinePlus Encyclopedia: Bilirubin - MedlinePlus Encyclopedia: Dubin-Johnson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
treatment | What are the treatments for Encephaloceles ? | Generally, surgery is performed during infancy to place the protruding tissues back into the skull, remove the sac, and correct the associated craniofacial abnormalities. Even large protrusions can often be removed without causing major functional disability. Hydrocephalus associated with encephaloceles may require surgical treatment with a shunt. Other treatment is symptomatic and supportive. |
treatment | What are the treatments for hereditary hypophosphatemic rickets ? | These resources address the diagnosis or management of hereditary hypophosphatemic rickets: - Gene Review: Gene Review: X-Linked Hypophosphatemia - Genetic Testing Registry: Autosomal dominant hypophosphatemic rickets - Genetic Testing Registry: Autosomal recessive hypophosphatemic bone disease - Genetic Testing Registry: Autosomal recessive hypophosphatemic vitamin D refractory rickets - Genetic Testing Registry: Familial X-linked hypophosphatemic vitamin D refractory rickets - Genetic Testing Registry: Hypophosphatemic rickets, autosomal recessive, 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
research | what research (or clinical trials) is being done for Hereditary Spastic Paraplegia ? | The NINDS supports research on genetic disorders such as HSP. More than 30 genes that are responsible for several forms of HSP have been identified, and many more will likely be identified in the future. These genes generally encode proteins that normally help maintain the function of axons in the spinal cord. Understanding how mutations of these genes cause HSP should lead to ways to prevent, treat, and cure HSP. |
symptoms | What are the symptoms of Binswanger's disease ? | What are the signs and symptoms of Binswanger's disease? The signs and symptoms associated with Binswanger's disease generally disrupt tasks related to "executive cognitive functioning," including short-term memory, organization, mood, the regulation of attention, the ability to make decisions, and appropriate behavior. Binswanger's disease is primarily characterized by psychomotor slowness - an increase in the length of time it takes, for example, for the fingers to turn the thought of a letter into the shape of a letter on a piece of paper. Other symptoms include forgetfulness (but not as severe as the forgetfulness of Alzheimer disease); changes in speech; an unsteady gait; clumsiness or frequent falls; changes in personality or mood (most likely in the form of apathy, irritability, and depression); and urinary symptoms that aren't caused by urological disease. |
symptoms | What are the symptoms of Multiple mitochondrial dysfunctions syndrome ? | What are the signs and symptoms of Multiple mitochondrial dysfunctions syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple mitochondrial dysfunctions syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of mitochondrial metabolism - Autosomal recessive inheritance - Cerebral atrophy - Congenital onset - Death in infancy - Decreased activity of mitochondrial respiratory chain - Dilated cardiomyopathy - Encephalopathy - Epileptic encephalopathy - Failure to thrive - Feeding difficulties - Hepatomegaly - High palate - Hypoplasia of the corpus callosum - Intrauterine growth retardation - Lactic acidosis - Lethargy - Metabolic acidosis - Microcephaly - Muscle weakness - Polyhydramnios - Polymicrogyria - Pulmonary hypertension - Respiratory failure - Retrognathia - Seizures - Severe muscular hypotonia - Vomiting - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Sener syndrome ? | What are the signs and symptoms of Sener syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sener syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteriorly placed anus - Chronic diarrhea - Coarse hair - Delayed eruption of permanent teeth - Eczema - Entropion - High palate - Hyperopic astigmatism - Hypertelorism - Hypodontia - Hypoplasia of the corpus callosum - Inguinal hernia - Micropenis - Microtia - Natal tooth - Patent ductus arteriosus - Perivascular spaces - Polyhydramnios - Posteriorly rotated ears - Smooth philtrum - Sporadic - Umbilical hernia - Wide anterior fontanel - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | Do you have information about Infant and Newborn Care | Summary : Going home with a new baby is exciting, but it can be scary, too. Newborns have many needs, like frequent feedings and diaper changes. Babies can have health issues that are different from older children and adults, like diaper rash and cradle cap. Your baby will go through many changes during the first year of life. You may feel uneasy at first. Ask your health care provider for help if you need it. |
inheritance | Is Ohdo syndrome, Maat-Kievit-Brunner type inherited ? | This condition is inherited in an X-linked recessive pattern. The MED12 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females with only one altered copy of the gene in each cell are called carriers. They do not usually experience health problems related to the condition, but they can pass the mutation to their children. Sons who inherit the altered gene will have the condition, while daughters who inherit the altered gene will be carriers. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. |
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