text stringlengths 4 4.87k | entities list |
|---|---|
（六）铁的贮存铁主要贮存于肝、脾与骨髓中。 | [
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贮存的主要形式为铁蛋白与含铁血黄素。 | [
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铁蛋白中含铁可高达23%。 | [
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含铁血黄素为颗粒状物质，含铁37%，见于铁蛋白含量最高的组织中。 | [
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（七）铁的排泄正常小儿铁的排泄量极微，主要排泄途径为胆汁、尿、粪、汗、脱落的毛发及剥落的皮肤、黏膜细胞。 | [
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"entity": "胆汁",
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... |
【病因及发病机制】在正常情况下，铁吸收和排泄基本是平衡的。 | [
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如果铁的消耗超过体内所能供给的量，就会发生缺铁。 | [
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引起缺铁的可能因素有：（一）贮存铁不足早产儿、母亲怀孕期严重缺铁、胎儿宫内失血等均可出现贮存铁不足。 | [
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（二）饮食中铁含量不足以牛乳、米、面粉等为主的食物进行人工喂养的婴儿，由于食物中含铁较少，不足以适应生长的需要，故易发生缺铁或缺铁性贫血，早产儿尤易如此。 | [
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（三）吸收障碍消化系统的疾病如长期慢性腹泻、脂肪泻等均可影响铁的吸收。 | [
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（四）需要量增加婴幼儿尤其是早产儿生长发育快，青春期前后发育也快，如饮食中无足够的铁供应，即可发生缺铁性贫血。 | [
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（五）失血长期慢性失血见于消化性溃疡、钩虫病、多发性肠息肉、血管瘤、梅克尔憩室炎或者炎症性肠病等，急性失血见于外伤、鼻出血等。 | [
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铁是血红蛋白的必要组成成分。 | [
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当体内缺铁或铁的利用发生障碍时，血红素合成不足，因而血红蛋白合成减少，形成小细胞低色素性贫血。 | [
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同时细胞色素、过氧化氢酶等也因缺铁而活性降低，细胞呼吸发生障碍。 | [
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贫血发生后，含铁酶活性的降低和长期携氧不足而影响消化、呼吸、循环、神经和免疫等系统的功能。 | [
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"entity": "呼吸、循环、神经和免疫等系统",
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值得提出的是体内刚出现缺铁时并非立刻出现贫血。 | [
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当体内已经有缺铁存在但尚无血红蛋白降低者称为缺铁（irondeficiency，ID）；只有当缺铁同时伴有血红蛋白下降者才称为缺铁性贫血（irondeficiencyanemia，IDA）。 | [
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如缺铁进一步加重，铁蛋白几近耗竭时，血红蛋白才开始下降，临床上出现明显的贫血表现。 | [
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【临床表现】IDA的发病高峰年龄在6个月～3周岁，患儿常有皮肤和黏膜苍白，软弱无力，心悸、气急、食欲差、不愿活动，精神不振，对环境不感兴趣，易烦躁、哭闹。 | [
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"entity": "软弱无力",
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可见口角炎、舌乳头萎缩、肛门皮肤发炎、反甲、皮肤干枯、毛发脆易断、失去光泽等。 | [
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"entity": "肛门皮肤发炎",
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严重者出现异食癖。 | [
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新生儿或小婴儿可有屏气发作，也称呼吸暂停症（breathholdingspell，BHS）。 | [
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贫血严重时可有心脏扩大和心功能不全。 | [
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IDA患儿还可以出现免疫功能低下，容易合并感染。 | [
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【诊断与鉴别诊断】（一）病史及临床表现IDA的诊断应结合喂养史、出生体重、发病年龄及临床症状和体征等综合判断。 | [
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患儿血红蛋白量比红细胞数降低明显，红细胞体积较小、中空、色淡，MCV＜80μm3</sup>（fl），MCH＜26pg，MCHC＜320g/L，红细胞平均直径6.5μm。 | [
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"id": 2,
"entity": "红细胞",
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"label": "bod"
... |
网织红细胞在治疗前通常在正常范围或稍高，但治疗后7～10天可出现明显升高，但极少超过10%以上。 | [
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偶尔外周血中可出现有核红细胞。 | [
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血小板计数大多在正常范围，但也可以出现血小板增多，甚至高达（600～1000）×109</sup>/L，贫血较重者血小板可减少。 | [
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... |
血小板计数的改变机制不明，可能为缺铁的直接结果。 | [
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（三）骨髓象有核红细胞增生活跃，严重患儿也可增生低下。 | [
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轻度至中度红系细胞增多，幼红细胞比例增多，重度贫血患儿幼红细胞胞质较少，体积较小，边缘不整齐，胞质着色偏蓝，出现核、浆发育不平衡的表现：胞质发育落后于胞核。 | [
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早幼红细胞和中幼红细胞比例增高，而晚幼红细胞减少。 | [
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骨髓涂片铁染色示细胞内、外铁均明显减少或缺如，铁粒幼细胞减少或不见。 | [
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白细胞和巨核细胞系统正常。 | [
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（四）大便隐血试验约有1/3的病儿可有大便隐血试验阳性。 | [
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（五）血生化指标改变SI明显降低，常低于350μg/L。 | [
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TIBC增加，往往高于6700μg/L。 | [
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血清铁饱和度明显降低，常在15%以下。 | [
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血清铁蛋白耗竭。 | [
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血清游离TfR增加。 | [
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血清TfR/铁蛋白对数比值是诊断IDA的敏感指标，该比值明显增加时有利于IDA的诊断。 | [
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... |
红细胞内游离原卟啉可明显增高，可高达1000～6000μg/L（正常值为420±180μg/L）。 | [
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（六）含铁酶的变化在发生缺铁性贫血以后，含铁酶细胞色素C、琥珀酸脱氢酶、单氨氧化酶等活性均可明显下降。 | [
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"id": 2,
"entity": "含铁酶细胞色素C",
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【治疗】IDA的治疗除应加强护理、去除病因、防止感染外，重点应包括以下几方面：（一）改善饮食尤其原来喂养不当者。 | [
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（二）铁剂治疗铁剂是治疗IDA的特效药物。 | [
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常用的制剂有硫酸亚铁、葡萄糖酸亚铁、富马酸亚铁等。 | [
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"end_offset": 10,
"label": "dru"
},
{
"id": 1,
"entity": "葡萄糖酸亚铁",
"start_offset": 11,
"end_offset": 17,
"label": "dru"
},
{
"id": 2,
"entity": "富马酸亚铁",
"start_offset": 18,
"end_offset": 23,
"label": ... |
由于牛奶含磷较多，可影响铁的吸收，故口服铁剂时不宜饮用牛奶。 | [
{
"id": 0,
"entity": "铁剂",
"start_offset": 20,
"end_offset": 22,
"label": "dru"
}
] |
注射铁剂疗效并不比口服好，且易出现毒性反应，因此仅在那些不宜口服治疗如伴有吸收不良的患儿才考虑使用；通常的制剂为右旋糖酐铁。 | [
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"entity": "注射",
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... |
铁剂服量过大可产生中毒现象，患儿可出现恶心、呕吐、不安，严重者可发生昏迷、肝坏死、胃肠道出血或末梢循环衰竭。 | [
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"id": 0,
"entity": "铁剂",
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{
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{
"id": 2,
"entity": "呕吐",
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"label": "sym"
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铁剂治疗的效果可利用网织红细胞百分数作为观察指标，通常治疗后3天网织红细胞开始上升，第7～10天达高峰。 | [
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"id": 0,
"entity": "铁剂",
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{
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{
"id": 2,
"entity": "网织红细胞",
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"label": "bod... |
一周内红细胞和血红蛋白逐渐上升，连续治疗3～4周，血红蛋白可恢复正常。 | [
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"entity": "红细胞",
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{
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{
"id": 2,
"entity": "红细胞和血红蛋白逐渐上升",
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此时，铁剂治疗不能立刻停止，而仍需继续治疗2～3月，以补充贮存铁。 | [
{
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"entity": "铁剂",
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（三）输血轻度贫血无需输血。 | [
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重度贫血致组织缺氧甚至危及心脏功能者应给予少量多次输血，通常每次给予5～7ml/kg，千万不可操之过急，一次大量输血可造成急性心功能衰竭而危及病儿生命。 | [
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"entity": "重度贫血",
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{
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... |
【预防】IDA是可以预防的疾病。 | [
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对容易发生IDA的小儿，应尽早预防：对婴儿要及时添加适当的辅助食品，对未成熟儿早给铁剂。 | [
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"id": 0,
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] |
参考文献1.柴毅明，周水珍.脑性瘫患合并癫痫.国外医学儿科学分册，2001，（2）：94-942.王清江，郑之卿主编.临床小儿神经病学.北京：人民军医出版社，2001：103.林庆，李松.小儿脑性瘫痪.北京：北京医科大学出版社，2000：64.吴希如，林庆.小儿神经系统疾病基础与临床.北京：人民卫生出版社，2000：622-6325.林庆，李松，刘建蒙等.我国六省（区）小儿脑瘫患病率及临床类型的调查分析.中华儿科杂志，2001，39：613-6156.GabriellaE.Molnar；Michael.Alexan.Pediatricrehabilitation.ed3.Philadelphia：HanceyandBelfus.19... | [
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{
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"label": "dep"
... |
第十四篇遗传性疾病第一章遗传概述遗传性疾病是由于遗传物质结构或功能改变所导致的疾病，简称遗传病（geneticdisease），在儿科学中占重要的地位。 | [
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"entity": "遗传",
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"label": "dis"
},
{
"id": 2,
"entity": "遗传性疾病",
"start_offset": 16,
"end_offset": 21,
"label": "dis... |
据统计，活产新生儿中，患不同遗传病者约占4%～6%，其中单基因病占1%以上，多基因病占2%～3%，染色体病占0.5%，其他占0.5%～1%。 | [
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"id": 0,
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"label": "dis"
},
{
"id": 2,
"entity": "多基因病",
"start_offset": 38,
"end_offset": 42,
"label": "di... |
临床上尽管单一遗传病的发病率很低，但在总体上，遗传病在儿科疾病中所占的比例非常高。 | [
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"id": 0,
"entity": "遗传病",
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"label": "dis"
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{
"id": 1,
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"start_offset": 23,
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"label": "dis"
},
{
"id": 2,
"entity": "儿科",
"start_offset": 27,
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"label": "dep"
... |
特别是随着科学和社会的进步，急性感染性疾病和营养不良性疾病得到了较有效的控制，儿童的疾病谱发生了很大的改变，遗传病所占的地位越来越重要。 | [
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"entity": "急性感染性疾病",
"start_offset": 14,
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},
{
"id": 1,
"entity": "营养不良性疾病",
"start_offset": 22,
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"label": "dis"
},
{
"id": 2,
"entity": "遗传病",
"start_offset": 54,
"end_offset": 57,
"label... |
根据统计，在儿科专科医院住院患者中，25%～39%是因遗传原因导致发病，11%的儿童期死亡患者与遗传因素有关。 | [
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] |
遗传病种类繁多，涉及全身各个系统，分散在临床各专业，导致畸形、代谢异常、神经和肌肉功能障碍，病死率和残疾率均较高。 | [
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{
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"label": "dis"
},
{
"id": 2,
"entity": "代谢异常",
"start_offset": 31,
"end_offset": 35,
"label": "dis"
... |
本章重点介绍染色体病和遗传代谢病。 | [
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{
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图14-1基因结构示意图一、染色体与基因1.染色体正常人体细胞（somaticcell）内含46条或23对染色体，配子即精子或卵子所含的染色体数目为体细胞染色体的一半。 | [
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},
{
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"entity": "染色体",
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"label": "bod"
},
{
"id": 2,
"entity": "基因",
"start_offset": 18,
"end_offset": 20,
"label": "bod"
}... |
体细胞染色体数目为双倍体（diploid），即2n=46，配子的染色体数目为23（n），称单倍体（haploid），染色体数目倍增（3n，4n....）称多倍体（polyploid），染色体数目比2n多或少一个至多个时称非整倍体（aneuploid），46条染色体中44条男女都一样，称常染色体（autosomes）。 | [
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{
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},
{
"id": 2,
"entity": "染色体",
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"end_offset": 61,
"label": "bod... |
另外两条染色体男女不同，男性为XY，女性为XX。 | [
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{
"id": 1,
"entity": "XY",
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},
{
"id": 2,
"entity": "XX",
"start_offset": 21,
"end_offset": 23,
"label": "bod"
}... |
X与Y称性染色体。 | [
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{
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},
{
"id": 2,
"entity": "染色体",
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"label": "bod"
}
] |
染色体的结构畸变包括染色体部分缺失、倒位、重复、易位及插入等。 | [
{
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"entity": "染色体",
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{
"id": 1,
"entity": "染色体的结构畸变",
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"label": "sym"
},
{
"id": 2,
"entity": "染色体",
"start_offset": 10,
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"label": "bod... |
2.基因与基因组基因是遗传的基本功能单位，是DNA双螺旋链上的一段负载一定的遗传信息，并在特定条件下表达，产生特定的生理功能的DNA片段。 | [
{
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{
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},
{
"id": 2,
"entity": "基因",
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"label": "bod"
},
... |
基因是编码蛋白质肽链和RNA所必需的核苷酸顺序，人类基因组学发现大约有38000个基因。 | [
{
"id": 0,
"entity": "基因",
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{
"id": 1,
"entity": "编码蛋白质肽链",
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"end_offset": 10,
"label": "bod"
},
{
"id": 2,
"entity": "RNA",
"start_offset": 11,
"end_offset": 14,
"label": "bod"... |
细胞的遗传信息几乎都储存在染色体的DNA分子长链上。 | [
{
"id": 0,
"entity": "细胞",
"start_offset": 0,
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{
"id": 1,
"entity": "染色体",
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"label": "bod"
},
{
"id": 2,
"entity": "DNA分子",
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"label": "bod"
... |
人类细胞中的全部基因称为基因组（genome）。 | [
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{
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"label": "bod"
}
... |
人类基因组由31.6亿个碱基对组成，共有3万～3.5万个基因。 | [
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{
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},
{
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"label": "bod"
... |
一条染色体是一个DNA分子，一个人单倍体细胞含有23个DNA分子，储存着人的全部信息。 | [
{
"id": 0,
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{
"id": 1,
"entity": "DNA分子",
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"label": "bod"
},
{
"id": 2,
"entity": "单倍体细胞",
"start_offset": 17,
"end_offset": 22,
"label": "bod... |
DNA是由两条多核苷酸链组成的双螺旋结构，脱氧核苷酸上的碱基有4种，即腺嘌呤（A）、胸腺嘧啶（T〕、鸟嘌呤（G）和胞嘧啶（C）。 | [
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{
"id": 1,
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"label": "bod"
},
{
"id": 2,
"entity": "脱氧核苷酸",
"start_offset": 21,
"end_offset": 26,
"label": "bod... |
染色体中的所有基因均具有一定的基本单元结构。 | [
{
"id": 0,
"entity": "染色体",
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{
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}
] |
典型的结构基因由外显子、内含子及调节顺序组成。 | [
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{
"id": 1,
"entity": "内含子",
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"end_offset": 15,
"label": "bod"
}
] |
人类绝大多数的结构基因都存在内含子。 | [
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{
"id": 1,
"entity": "内含子",
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"label": "bod"
}
] |
内含子是非编码基因序列，外显子才是基因的编码部分。 | [
{
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"entity": "内含子",
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{
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},
{
"id": 2,
"entity": "基因",
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"label": "bod"
... |
在RNA转录中，内含子与外显子一起被转录，称为前体RNA，然后除去内含子剪接为成熟RNA。 | [
{
"id": 0,
"entity": "RNA",
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{
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},
{
"id": 2,
"entity": "前体RNA",
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"label": "bod"
... |
基因结构（图14-14）。 | [
{
"id": 0,
"entity": "基因",
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}
] |
在结构基因的两端是非翻译区，又称侧翼区，分别为5'端（上游）侧翼区和3'端（下游）侧翼区。 | [
{
"id": 0,
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},
{
"id": 1,
"entity": "非翻译区",
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"label": "bod"
},
{
"id": 2,
"entity": "侧翼区",
"start_offset": 16,
"end_offset": 19,
"label": "bod"
... |
其中5'端侧翼区包含基因的启动子区和一些保守序列，涉及基因的转录启动和表达调控。 | [
{
"id": 0,
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{
"id": 1,
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"label": "bod"
},
{
"id": 2,
"entity": "基因",
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"label": "... |
在上游侧翼区的-25～-33以及-50～-100区域内存在TATA盒及CCAAT盒。 | [
{
"id": 0,
"entity": "上游侧翼区",
"start_offset": 1,
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"label": "bod"
}
] |
这些DNA元件能与RNA聚合酶及一些转录调控因子相互结合，在转录起始中发挥作用。 | [
{
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},
{
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"label": "bod"
},
{
"id": 2,
"entity": "转录调控因子",
"start_offset": 18,
"end_offset": 24,
"label": "b... |
在3'端侧翼区存在多聚腺苷酸加尾信号。 | [
{
"id": 0,
"entity": "3'端侧翼区",
"start_offset": 1,
"end_offset": 7,
"label": "bod"
},
{
"id": 1,
"entity": "多聚腺苷酸",
"start_offset": 9,
"end_offset": 14,
"label": "bod"
}
] |
每个基因在染色体上都有自己精确的位置，称为基因位点，二倍体同一对染色体上同一位点的基因及其变异叫等位基因，等位基因中一个异常，一个正常，称为病态杂合子，两个异常者称为病态纯合子。 | [
{
"id": 0,
"entity": "基因",
"start_offset": 2,
"end_offset": 4,
"label": "bod"
},
{
"id": 1,
"entity": "染色体",
"start_offset": 5,
"end_offset": 8,
"label": "bod"
},
{
"id": 2,
"entity": "基因",
"start_offset": 21,
"end_offset": 23,
"label": "bod"
},
... |
大部分的遗传物质都在细胞核内，但是胞浆中的线粒体含有自己特殊的遗传物质，包含了16000个碱基片段。 | [
{
"id": 0,
"entity": "细胞核",
"start_offset": 10,
"end_offset": 13,
"label": "bod"
},
{
"id": 1,
"entity": "胞浆",
"start_offset": 17,
"end_offset": 19,
"label": "bod"
},
{
"id": 2,
"entity": "线粒体",
"start_offset": 21,
"end_offset": 24,
"label": "bod"
... |
所有的线粒体都由母系遗传（因为精子通常不携带线粒体到受精卵内），细胞内的线粒体主要反映了母系的遗传。 | [
{
"id": 0,
"entity": "线粒体",
"start_offset": 3,
"end_offset": 6,
"label": "bod"
},
{
"id": 1,
"entity": "精子",
"start_offset": 15,
"end_offset": 17,
"label": "bod"
},
{
"id": 2,
"entity": "线粒体",
"start_offset": 22,
"end_offset": 25,
"label": "bod"
... |
线粒体为细胞的运动、收缩、生物合成、主动运输以及信号传导等耗能的过程提供能源。 | [
{
"id": 0,
"entity": "线粒体",
"start_offset": 0,
"end_offset": 3,
"label": "bod"
},
{
"id": 1,
"entity": "细胞",
"start_offset": 4,
"end_offset": 6,
"label": "bod"
}
] |
线粒体作为细胞的供能装置，将细胞氧化还原产生的能量以高能磷酸键形式暂时储存起来，是糖、脂肪和蛋白质代谢的最终通路。 | [
{
"id": 0,
"entity": "线粒体",
"start_offset": 0,
"end_offset": 3,
"label": "bod"
},
{
"id": 1,
"entity": "细胞",
"start_offset": 5,
"end_offset": 7,
"label": "bod"
},
{
"id": 2,
"entity": "细胞",
"start_offset": 14,
"end_offset": 16,
"label": "bod"
},
... |
线粒体基因组（mitochondrialgenome，mtDNA））是独立于细胞核染色体外的基因组，具有自我复制、转录和编码功能。 | [
{
"id": 0,
"entity": "线粒体",
"start_offset": 0,
"end_offset": 3,
"label": "bod"
},
{
"id": 1,
"entity": "基因组",
"start_offset": 3,
"end_offset": 6,
"label": "bod"
},
{
"id": 2,
"entity": "DNA",
"start_offset": 29,
"end_offset": 32,
"label": "bod"
}... |
线粒体中所含的DNA为环状双链结构的DNA分子（mtDNA），编码多种与细胞氧化磷酸化有关的酶，是独立于细胞核染色体外的遗传物质，这些基因突变所导致的疾病称线粒体基因病。 | [
{
"id": 0,
"entity": "线粒体",
"start_offset": 0,
"end_offset": 3,
"label": "bod"
},
{
"id": 1,
"entity": "DNA",
"start_offset": 7,
"end_offset": 10,
"label": "bod"
},
{
"id": 2,
"entity": "DNA分子",
"start_offset": 18,
"end_offset": 23,
"label": "bod"
... |
人体基因除以上结构基因之外还存在有一定结构特征的其他序列。 | [
{
"id": 0,
"entity": "基因",
"start_offset": 2,
"end_offset": 4,
"label": "bod"
},
{
"id": 1,
"entity": "基因",
"start_offset": 9,
"end_offset": 11,
"label": "bod"
}
] |
最为突出的是含有很多重复序列，例如微卫星DNA，可作为基因组的一种多态性标记。 | [
{
"id": 0,
"entity": "微卫星DNA",
"start_offset": 17,
"end_offset": 23,
"label": "bod"
},
{
"id": 1,
"entity": "基因组",
"start_offset": 27,
"end_offset": 30,
"label": "bod"
}
] |
另外，目前发现基因组的单核苷酸多态性（singlenucleotidepolymorphism，SNP）发布广泛，数量达数百万，在分子遗传学连锁分析、种群多样性研究、亲子鉴定以及功能研究等领域中具有重要意义。 | [
{
"id": 0,
"entity": "基因组",
"start_offset": 7,
"end_offset": 10,
"label": "bod"
},
{
"id": 1,
"entity": "单核苷酸多态性",
"start_offset": 11,
"end_offset": 18,
"label": "bod"
}
] |
3.遗传信息的表达（1）DNA的复制：DNA分子把遗传信息传给下一代是通过DNA的复制机制来实现的，复制是指双链DNA分子由一个分子变成与之相同的两个分子的过程，是在DNA聚合酶的催化下完成的。 | [
{
"id": 0,
"entity": "DNA",
"start_offset": 12,
"end_offset": 15,
"label": "bod"
},
{
"id": 1,
"entity": "DNA",
"start_offset": 19,
"end_offset": 22,
"label": "bod"
},
{
"id": 2,
"entity": "DNA",
"start_offset": 37,
"end_offset": 40,
"label": "bod"... |
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