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约15%～25%围生期HIV感染的婴儿在生后数月发病，以后每年约以10%的比例增加。 | [
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故小儿艾滋病的临床经过较成人艾滋病更为凶险。 | [
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在确诊艾滋病之前，患儿常出现一些非特异性的临床表现，包括轻度生长迟缓，肝脾肿大全身淋巴结肿大间歇发热，非特异性间歇性腹泻和慢性皮肤感染HIV感染的可能。 | [
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"entity": "皮肤",
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"entity": "慢性皮肤感染",
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"entity": "HIV感染",
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（一）临床分期1994年美国疾病控制中心根据临床表现将HIV感染分为以下4期：无临床表现（N）、轻度临床表现（A）、中度临床表现（B）和严重临床表现（C）。 | [
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2.轻微临床表现期（A）具有下列2个或更多的表现，但无中度和严重临床表现期的临床征象：（1）淋巴结肿大肝脏肿大脾脏肿大皮炎；（5）腮腺炎；（6）反复或持续性上呼吸道感染鼻窦炎或中耳炎。 | [
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"entity": "中耳炎",
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3.中度临床表现期（B）除A期的表现外，尚有以下表现：（1）贫血（Hb＜80g/L），中性粒细胞减少（＜1×109</sup>/L），或血小板减少（＜100×109</sup>/L），持续≥30天；（2）细菌性脑膜炎、肺炎或败血症；（3）6个月内婴儿持续2个月以上的口腔念珠菌病；（4）心肌病；（5）生后1个月内发生巨细胞病毒感染（CMV）；（6）反复和慢性腹泻；（7）肝炎；（8）反复发生单纯疱疹病毒性口腔炎（1年内≥2次）；（9）生后1个月发生单纯疱疹病毒性毛细支气管炎、肺炎或食管炎；（10）带状疱疹至少发作2次或出现不同的皮损部位；（11）平滑肌肉瘤伴有EB病毒感染；（12）淋巴样间质性肺炎或肺淋巴样增生综合征；（13）肾脏病变；（14）奴卡菌病（nocardiosis）；（15）持续发热1个月以上；（16）出生1个月内发生弓形虫感染播散性水痘（有并发症的水痘）细菌感染，包括脓毒血症、肺炎、脑膜炎、骨关节感染和深部脓肿；（2）念珠菌感染累及食管、气管、支气管和肺；（3）深部真菌感染，呈播散性（肺、肺门和颈淋巴结以外的区域）；（4）肺外隐球菌病；（5）隐孢子菌感染伴持续腹泻1个月以上；（6）出生后1个月的巨细胞病毒感染，累及肝、脾和淋巴结以外的部位；（7）脑病：以下表现之一，病程至少持续2个月以上，而不能以其他原因解释者：①发育滞后或倒退，智能倒退；②脑发育受损，头围测定证实为后天性小头畸形或CT/MRI检查发现有脑萎缩后天性系统性运动功能障碍，表现为下列2个或2个以上征象：麻痹，病理性反射征，共济失调步态不稳；（8）单纯疱疹病毒性黏膜溃疡持续1个月以上，或出生1个月以后的小儿患单纯疱疹病毒性支气管炎；（9）组织胞浆菌病累及肺、肺门和颈淋巴结以外的区域；（10）Kaposi肉瘤；（11）原发性脑内淋巴瘤；（12）Burkitt淋巴瘤，B细胞性或免疫学表型不明的大细胞性淋巴瘤；（13）播散性或肺外性结核病；（14）卡氏肺囊虫性肺炎（PCP）；（15）进行性多发性白质性脑病；（16）沙门菌属（非伤寒）脓毒血症，反复发作；（17）出生1个月以后发生脑弓形虫感染；（18）消耗综合征：①体重连续减轻10%以上；②大于1岁者的体重-年龄曲线下降25个百分位；③出生1个月后的体重-身高曲线下降5个百分位；④并伴有慢性腹泻（每天至少2次稀便持续1个月以上）或发热1个月以上（持续或间歇性）。 | [
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"entity": "肺炎",
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"entity": "骨关节感染",
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"label": "dis"
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"id": 33,
"entity": "深部脓肿",
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"label": "dis"
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"entity": "颈淋巴结",
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},
{
"id": 44,
"entity": "隐孢子菌感染",
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},
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"entity": "肝",
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{
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{
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{
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"entity": "脑萎缩",
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{
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{
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{
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},
{
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{
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{
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{
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{
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（二）小儿HIV感染分类（表17-17）一旦定类，即使病情好转，也不能降至较轻一类。 | [
{
"id": 0,
"entity": "小儿HIV感染",
"start_offset": 3,
"end_offset": 10,
"label": "dis"
}
] |
表17-11小儿HIV感染分类注：如不能确定已有HIV感染，则在上述符合前加“E”，例如EN2（三）小儿AIDS的主要临床征象1.持续性全身淋巴结肿大全身淋巴结肿大病原微生物感染常出现反复腹泻、皮疹、肝脾肿大、口腔鹅口疮以及皮肤黏膜念珠菌病等。 | [
{
"id": 0,
"entity": "小儿HIV感染",
"start_offset": 6,
"end_offset": 13,
"label": "dis"
},
{
"id": 1,
"entity": "HIV感染",
"start_offset": 24,
"end_offset": 29,
"label": "dis"
},
{
"id": 2,
"entity": "小儿AIDS",
"start_offset": 50,
"end_offset": 56,
"label": "dis"
},
{
"id": 3,
"entity": "淋巴结",
"start_offset": 70,
"end_offset": 73,
"label": "bod"
},
{
"id": 4,
"entity": "持续性全身淋巴结肿大",
"start_offset": 65,
"end_offset": 75,
"label": "sym"
},
{
"id": 5,
"entity": "淋巴结",
"start_offset": 77,
"end_offset": 80,
"label": "bod"
},
{
"id": 6,
"entity": "全身淋巴结肿大",
"start_offset": 75,
"end_offset": 82,
"label": "sym"
},
{
"id": 7,
"entity": "病原微生物感染",
"start_offset": 82,
"end_offset": 89,
"label": "dis"
},
{
"id": 8,
"entity": "反复腹泻",
"start_offset": 92,
"end_offset": 96,
"label": "sym"
},
{
"id": 9,
"entity": "皮疹",
"start_offset": 97,
"end_offset": 99,
"label": "dis"
},
{
"id": 10,
"entity": "肝脾肿大",
"start_offset": 100,
"end_offset": 104,
"label": "sym"
},
{
"id": 11,
"entity": "口腔鹅口疮",
"start_offset": 105,
"end_offset": 110,
"label": "dis"
},
{
"id": 12,
"entity": "皮肤黏膜念珠菌病",
"start_offset": 112,
"end_offset": 120,
"label": "dis"
}
] |
随疾病进展可发生严重败血症、细菌性肺炎、脑膜炎、泌尿系感染、蜂窝组织炎、慢性中耳炎、慢性鼻窦炎和卡氏肺囊虫病，各脏器阿米巴病、结核菌感染、EB病毒感染以及李斯忒菌感染等。 | [
{
"id": 0,
"entity": "严重败血症",
"start_offset": 8,
"end_offset": 13,
"label": "dis"
},
{
"id": 1,
"entity": "细菌性肺炎",
"start_offset": 14,
"end_offset": 19,
"label": "dis"
},
{
"id": 2,
"entity": "脑膜炎",
"start_offset": 20,
"end_offset": 23,
"label": "dis"
},
{
"id": 3,
"entity": "泌尿系感染",
"start_offset": 24,
"end_offset": 29,
"label": "dis"
},
{
"id": 4,
"entity": "蜂窝组织炎",
"start_offset": 30,
"end_offset": 35,
"label": "dis"
},
{
"id": 5,
"entity": "慢性中耳炎",
"start_offset": 36,
"end_offset": 41,
"label": "dis"
},
{
"id": 6,
"entity": "慢性鼻窦炎",
"start_offset": 42,
"end_offset": 47,
"label": "dis"
},
{
"id": 7,
"entity": "卡氏肺囊虫病",
"start_offset": 48,
"end_offset": 54,
"label": "dis"
},
{
"id": 8,
"entity": "脏器阿米巴病",
"start_offset": 56,
"end_offset": 62,
"label": "dis"
},
{
"id": 9,
"entity": "结核菌感染",
"start_offset": 63,
"end_offset": 68,
"label": "dis"
},
{
"id": 10,
"entity": "EB病毒感染",
"start_offset": 69,
"end_offset": 75,
"label": "dis"
},
{
"id": 11,
"entity": "李斯忒菌感染",
"start_offset": 77,
"end_offset": 83,
"label": "dis"
}
] |
反复细菌、病毒、真菌和其他病原微生物感染为小儿AIDS的主要临床表现之一。 | [
{
"id": 0,
"entity": "细菌",
"start_offset": 2,
"end_offset": 4,
"label": "mic"
},
{
"id": 1,
"entity": "病毒",
"start_offset": 5,
"end_offset": 7,
"label": "mic"
},
{
"id": 2,
"entity": "真菌",
"start_offset": 8,
"end_offset": 10,
"label": "mic"
},
{
"id": 3,
"entity": "病原微生物感染",
"start_offset": 13,
"end_offset": 20,
"label": "dis"
},
{
"id": 4,
"entity": "小儿AIDS",
"start_offset": 21,
"end_offset": 27,
"label": "dis"
}
] |
最主要的病理所见为慢性肺炎，多为淋巴细胞性间质性肺炎，X线胸部摄片可见网状和结节状浸润影。 | [
{
"id": 0,
"entity": "慢性肺炎",
"start_offset": 9,
"end_offset": 13,
"label": "dis"
},
{
"id": 1,
"entity": "淋巴细胞性间质性肺炎",
"start_offset": 16,
"end_offset": 26,
"label": "dis"
},
{
"id": 2,
"entity": "X线胸部摄片",
"start_offset": 27,
"end_offset": 33,
"label": "pro"
},
{
"id": 3,
"entity": "网状和结节状浸润影",
"start_offset": 35,
"end_offset": 44,
"label": "sym"
}
] |
已明确有HIV感染的患儿如果出现下列机会感染，应做出AIDS病的推测诊断：①念珠菌性食道炎；②巨细胞病毒性视网膜炎；③卡氏肺囊虫性肺炎；④脑弓形虫病（1月龄以后）；⑤弥漫性慢性非典型性分枝杆菌感染。 | [
{
"id": 0,
"entity": "HIV感染",
"start_offset": 4,
"end_offset": 9,
"label": "dis"
},
{
"id": 1,
"entity": "AIDS病",
"start_offset": 26,
"end_offset": 31,
"label": "dis"
},
{
"id": 2,
"entity": "念珠菌性食道炎",
"start_offset": 38,
"end_offset": 45,
"label": "dis"
},
{
"id": 3,
"entity": "巨细胞病毒性视网膜炎",
"start_offset": 47,
"end_offset": 57,
"label": "dis"
},
{
"id": 4,
"entity": "卡氏肺囊虫性肺炎",
"start_offset": 59,
"end_offset": 67,
"label": "dis"
},
{
"id": 5,
"entity": "脑弓形虫病",
"start_offset": 69,
"end_offset": 74,
"label": "dis"
},
{
"id": 6,
"entity": "弥漫性慢性非典型性分枝杆菌感染",
"start_offset": 83,
"end_offset": 98,
"label": "dis"
}
] |
具有下列组织学诊断依据的机会感染，则可确诊AIDS：①弥漫性；②弥漫性组织浆菌病；③肺外隐球菌病；④肺外结核病；⑤复发性沙门菌属败血症；⑥弥漫性/持续性单纯疱疹。 | [
{
"id": 0,
"entity": "AIDS",
"start_offset": 21,
"end_offset": 25,
"label": "dis"
},
{
"id": 1,
"entity": "弥漫性组织浆菌病",
"start_offset": 32,
"end_offset": 40,
"label": "dis"
},
{
"id": 2,
"entity": "肺外隐球菌病",
"start_offset": 42,
"end_offset": 48,
"label": "dis"
},
{
"id": 3,
"entity": "肺外结核病",
"start_offset": 50,
"end_offset": 55,
"label": "dis"
},
{
"id": 4,
"entity": "复发性沙门菌属败血症",
"start_offset": 57,
"end_offset": 67,
"label": "dis"
},
{
"id": 5,
"entity": "弥漫性/持续性单纯疱疹",
"start_offset": 69,
"end_offset": 80,
"label": "dis"
}
] |
3.中枢神经系统并发症主要指AIDS脑病，小儿AIDS患者发生率较高。 | [
{
"id": 0,
"entity": "中枢神经系统并发症",
"start_offset": 2,
"end_offset": 11,
"label": "dis"
},
{
"id": 1,
"entity": "AIDS",
"start_offset": 14,
"end_offset": 18,
"label": "dis"
},
{
"id": 2,
"entity": "脑病",
"start_offset": 18,
"end_offset": 20,
"label": "dis"
},
{
"id": 3,
"entity": "小儿AIDS",
"start_offset": 21,
"end_offset": 27,
"label": "dis"
}
] |
在围生期HIV感染儿中发生率约为23%，其发作常伴免疫缺陷的恶化。 | [
{
"id": 0,
"entity": "HIV感染",
"start_offset": 4,
"end_offset": 9,
"label": "dis"
}
] |
最严重的临床经过为亚急性脑病，常于症状出现后数周至数月死亡。 | [
{
"id": 0,
"entity": "亚急性脑病",
"start_offset": 9,
"end_offset": 14,
"label": "dis"
}
] |
其组织病理改变主要为脑萎缩。 | [
{
"id": 0,
"entity": "脑萎缩",
"start_offset": 10,
"end_offset": 13,
"label": "dis"
}
] |
4.其他并发症状消化系统常见消耗综合征（定义见临床分型）。 | [
{
"id": 0,
"entity": "消化系统常见消耗综合征",
"start_offset": 8,
"end_offset": 19,
"label": "dis"
}
] |
有资料表明，约0.5%的小儿AIDS发生恶性肿瘤，常见肿瘤类型为非霍奇金淋巴瘤、Kaposi肉瘤、B淋巴细胞性白血病以及肝母细胞瘤等。 | [
{
"id": 0,
"entity": "小儿AIDS",
"start_offset": 12,
"end_offset": 18,
"label": "dis"
},
{
"id": 1,
"entity": "恶性肿瘤",
"start_offset": 20,
"end_offset": 24,
"label": "dis"
},
{
"id": 2,
"entity": "肿瘤",
"start_offset": 27,
"end_offset": 29,
"label": "dis"
},
{
"id": 3,
"entity": "非霍奇金淋巴瘤",
"start_offset": 32,
"end_offset": 39,
"label": "dis"
},
{
"id": 4,
"entity": "Kaposi肉瘤",
"start_offset": 40,
"end_offset": 48,
"label": "dis"
},
{
"id": 5,
"entity": "B淋巴细胞性白血病",
"start_offset": 49,
"end_offset": 58,
"label": "dis"
},
{
"id": 6,
"entity": "肝母细胞瘤",
"start_offset": 60,
"end_offset": 65,
"label": "dis"
}
] |
小儿AIDS的心血管并发症近年已引起重视。 | [
{
"id": 0,
"entity": "小儿AIDS",
"start_offset": 0,
"end_offset": 6,
"label": "dis"
},
{
"id": 1,
"entity": "心血管并发症",
"start_offset": 7,
"end_offset": 13,
"label": "dis"
}
] |
伴随CD4+</sup>T淋巴细胞减少，可见渐进性左室功能障碍。 | [
{
"id": 0,
"entity": "T淋巴细胞",
"start_offset": 12,
"end_offset": 17,
"label": "bod"
}
] |
HIV感染儿童的血液系统异常常表现为白细胞减少贫血和血小板减少特异性抗体检测可用于HIV感染的流行病学调查和现症患者的诊断。 | [
{
"id": 0,
"entity": "HIV感染",
"start_offset": 0,
"end_offset": 5,
"label": "dis"
},
{
"id": 1,
"entity": "血液系统",
"start_offset": 8,
"end_offset": 12,
"label": "bod"
},
{
"id": 2,
"entity": "白细胞",
"start_offset": 18,
"end_offset": 21,
"label": "bod"
},
{
"id": 3,
"entity": "白细胞减少",
"start_offset": 18,
"end_offset": 23,
"label": "sym"
},
{
"id": 4,
"entity": "贫血",
"start_offset": 23,
"end_offset": 25,
"label": "sym"
},
{
"id": 5,
"entity": "血小板",
"start_offset": 26,
"end_offset": 29,
"label": "bod"
},
{
"id": 6,
"entity": "血小板减少",
"start_offset": 26,
"end_offset": 31,
"label": "sym"
},
{
"id": 7,
"entity": "特异性抗体检测",
"start_offset": 31,
"end_offset": 38,
"label": "pro"
},
{
"id": 8,
"entity": "HIV感染",
"start_offset": 41,
"end_offset": 46,
"label": "dis"
}
] |
但由于早期感染血清抗体出现较迟，一般在感染后22～27天才能检出，因此抗体阴性不能排除HIV早期感染，应在2～4周后复查。 | [
{
"id": 0,
"entity": "血清抗体",
"start_offset": 7,
"end_offset": 11,
"label": "bod"
},
{
"id": 1,
"entity": "抗体",
"start_offset": 35,
"end_offset": 37,
"label": "bod"
},
{
"id": 2,
"entity": "HIV",
"start_offset": 43,
"end_offset": 46,
"label": "mic"
}
] |
应注意，18个月以下婴儿可存在来自母体的被动抗体。 | [
{
"id": 0,
"entity": "抗体",
"start_offset": 22,
"end_offset": 24,
"label": "bod"
}
] |
（1）筛选试验：采用ELISA或免疫荧光试验检查血清HIV抗体，阳性者应做验证试验，以排除假阳性反应。 | [
{
"id": 0,
"entity": "筛选试验",
"start_offset": 3,
"end_offset": 7,
"label": "pro"
},
{
"id": 1,
"entity": "ELISA",
"start_offset": 10,
"end_offset": 15,
"label": "pro"
},
{
"id": 2,
"entity": "免疫荧光试验检查",
"start_offset": 16,
"end_offset": 24,
"label": "pro"
},
{
"id": 3,
"entity": "血清HIV抗体",
"start_offset": 24,
"end_offset": 31,
"label": "bod"
},
{
"id": 4,
"entity": "验证试验",
"start_offset": 37,
"end_offset": 41,
"label": "pro"
}
] |
（2）验证试验：用免疫印迹试验检查血清抗gp120、抗gp41和抗gp24。 | [
{
"id": 0,
"entity": "验证试验",
"start_offset": 3,
"end_offset": 7,
"label": "pro"
},
{
"id": 1,
"entity": "免疫印迹试验",
"start_offset": 9,
"end_offset": 15,
"label": "pro"
},
{
"id": 2,
"entity": "血清抗gp120",
"start_offset": 17,
"end_offset": 25,
"label": "bod"
},
{
"id": 3,
"entity": "抗gp41",
"start_offset": 26,
"end_offset": 31,
"label": "bod"
},
{
"id": 4,
"entity": "抗gp24",
"start_offset": 32,
"end_offset": 37,
"label": "bod"
}
] |
阳性可以确立HIV感染的诊断。 | [
{
"id": 0,
"entity": "HIV感染",
"start_offset": 6,
"end_offset": 11,
"label": "dis"
}
] |
2.抗原检查检查血清中p24抗原，其出现早于血清抗体，因此可用于早期诊断。 | [
{
"id": 0,
"entity": "抗原检查",
"start_offset": 2,
"end_offset": 6,
"label": "pro"
},
{
"id": 1,
"entity": "血清",
"start_offset": 8,
"end_offset": 10,
"label": "bod"
},
{
"id": 2,
"entity": "p24抗原",
"start_offset": 11,
"end_offset": 16,
"label": "mic"
},
{
"id": 3,
"entity": "血清抗体",
"start_offset": 22,
"end_offset": 26,
"label": "bod"
}
] |
3.HIV核酸检查用PCR技术检测血清中HIVRNA，其阳性结果常较p24抗原检测早3～5天，较抗体～3周，并可定量检测。 | [
{
"id": 0,
"entity": "HIV核酸检查",
"start_offset": 2,
"end_offset": 9,
"label": "pro"
},
{
"id": 1,
"entity": "血清",
"start_offset": 17,
"end_offset": 19,
"label": "bod"
},
{
"id": 2,
"entity": "p24抗原",
"start_offset": 34,
"end_offset": 39,
"label": "mic"
},
{
"id": 3,
"entity": "抗",
"start_offset": 48,
"end_offset": 49,
"label": "ite"
},
{
"id": 4,
"entity": "抗",
"start_offset": 48,
"end_offset": 49,
"label": "bod"
}
] |
所以是早期诊断、判断预后和抗病毒药物疗效的理想指标。 | [
{
"id": 0,
"entity": "抗病毒药物",
"start_offset": 13,
"end_offset": 18,
"label": "dru"
}
] |
用原位杂交技术可以检查组织或细胞内的HIV核酸。 | [
{
"id": 0,
"entity": "组织",
"start_offset": 11,
"end_offset": 13,
"label": "bod"
},
{
"id": 1,
"entity": "细胞",
"start_offset": 14,
"end_offset": 16,
"label": "bod"
},
{
"id": 2,
"entity": "HIV核酸",
"start_offset": 18,
"end_offset": 23,
"label": "bod"
}
] |
1.血细胞检查包括白细胞、血小板及红细胞计数减少淋巴细胞检查T淋巴细胞亚群计数：正常CD4+</sup>T细胞/CD8+</sup>T细胞比值为1.5～2.0，AIDS时低于1.0。 | [
{
"id": 0,
"entity": "血细胞检查",
"start_offset": 2,
"end_offset": 7,
"label": "pro"
},
{
"id": 1,
"entity": "白细胞",
"start_offset": 9,
"end_offset": 12,
"label": "bod"
},
{
"id": 2,
"entity": "血小板",
"start_offset": 13,
"end_offset": 16,
"label": "bod"
},
{
"id": 3,
"entity": "红细胞计数",
"start_offset": 17,
"end_offset": 22,
"label": "ite"
},
{
"id": 4,
"entity": "红细胞计数减少",
"start_offset": 17,
"end_offset": 24,
"label": "sym"
},
{
"id": 5,
"entity": "淋巴细胞检查",
"start_offset": 24,
"end_offset": 30,
"label": "pro"
},
{
"id": 6,
"entity": "T淋巴细胞亚群计数",
"start_offset": 30,
"end_offset": 39,
"label": "ite"
},
{
"id": 7,
"entity": "AIDS",
"start_offset": 80,
"end_offset": 84,
"label": "dis"
}
] |
此外，CD4+</sup>T细胞绝对计数有助于疾病的分期和判断疗效。 | [
{
"id": 0,
"entity": "T细胞绝对计数",
"start_offset": 13,
"end_offset": 20,
"label": "ite"
}
] |
3.皮肤迟发性变态反应试验HIV感染者低下或阴性。 | [
{
"id": 0,
"entity": "皮肤迟发性变态反应试验",
"start_offset": 2,
"end_offset": 13,
"label": "pro"
},
{
"id": 1,
"entity": "HIV感染",
"start_offset": 13,
"end_offset": 18,
"label": "dis"
}
] |
4.免疫球蛋白、补体、免疫复合物及自身抗体等。 | [
{
"id": 0,
"entity": "免疫球蛋白",
"start_offset": 2,
"end_offset": 7,
"label": "bod"
},
{
"id": 1,
"entity": "补体",
"start_offset": 8,
"end_offset": 10,
"label": "bod"
},
{
"id": 2,
"entity": "免疫复合物",
"start_offset": 11,
"end_offset": 16,
"label": "bod"
},
{
"id": 3,
"entity": "自身抗体",
"start_offset": 17,
"end_offset": 21,
"label": "bod"
}
] |
（三）免疫状况分类各年龄小儿CD4+</sup>T淋巴细胞正常值存在差异，在判别T淋巴细胞受抑制时应注意年龄特点。 | [
{
"id": 0,
"entity": "T淋巴细胞",
"start_offset": 24,
"end_offset": 29,
"label": "bod"
},
{
"id": 1,
"entity": "T淋巴细胞",
"start_offset": 40,
"end_offset": 45,
"label": "bod"
}
] |
美国疾病控制中心（CDC）以周围血中CD4+</sup>T淋巴细胞绝对值或CD4+</sup>T淋巴细胞占淋巴细胞总数的百分率来表示病人的免疫状况，做以下分类（表17-17）。 | [
{
"id": 0,
"entity": "T淋巴细胞绝对值",
"start_offset": 28,
"end_offset": 36,
"label": "ite"
},
{
"id": 1,
"entity": "T淋巴细胞",
"start_offset": 47,
"end_offset": 52,
"label": "bod"
},
{
"id": 2,
"entity": "淋巴细胞总数",
"start_offset": 53,
"end_offset": 59,
"label": "ite"
}
] |
表17-12基于CD4+T淋巴细胞计数和年龄特点的免疫状况分类【诊断】HIV感染母亲所生婴儿HIV感染的诊断原则：1.≥18个月婴儿的确定诊断具备ELISA检测抗体2次阳性和证实试验（免疫印迹或免疫荧光检测）1次阳性；或在不同样本任何2项病毒检测试验（HIV分离、HIV基因和p24抗原测定）阳性；或存在一项儿科AIDS定义疾病（见临床分型）。 | [
{
"id": 0,
"entity": "CD4+T淋巴细胞计数",
"start_offset": 8,
"end_offset": 19,
"label": "ite"
},
{
"id": 1,
"entity": "HIV感染",
"start_offset": 35,
"end_offset": 40,
"label": "dis"
},
{
"id": 2,
"entity": "HIV感染",
"start_offset": 46,
"end_offset": 51,
"label": "dis"
},
{
"id": 3,
"entity": "ELISA检测",
"start_offset": 73,
"end_offset": 80,
"label": "pro"
},
{
"id": 4,
"entity": "抗体",
"start_offset": 80,
"end_offset": 82,
"label": "bod"
},
{
"id": 5,
"entity": "证实试验",
"start_offset": 87,
"end_offset": 91,
"label": "pro"
},
{
"id": 6,
"entity": "免疫印迹",
"start_offset": 92,
"end_offset": 96,
"label": "pro"
},
{
"id": 7,
"entity": "免疫荧光检测",
"start_offset": 97,
"end_offset": 103,
"label": "pro"
},
{
"id": 8,
"entity": "病毒检测试验",
"start_offset": 119,
"end_offset": 125,
"label": "pro"
},
{
"id": 9,
"entity": "HIV分离",
"start_offset": 126,
"end_offset": 131,
"label": "pro"
},
{
"id": 10,
"entity": "HIV基因",
"start_offset": 132,
"end_offset": 137,
"label": "pro"
},
{
"id": 11,
"entity": "p24抗原测定",
"start_offset": 138,
"end_offset": 145,
"label": "pro"
},
{
"id": 12,
"entity": "AIDS",
"start_offset": 156,
"end_offset": 160,
"label": "dis"
}
] |
≥18个月婴儿的推测诊断：具备一项病毒检测试验（同上）阳性（除外脐血）。 | [
{
"id": 0,
"entity": "病毒检测试验",
"start_offset": 17,
"end_offset": 23,
"label": "pro"
}
] |
2.＜18个月婴儿的确定诊断具备在不同样本任何2项病毒检测试验（同上）阳性；或存在一项儿科AIDS定义疾病。 | [
{
"id": 0,
"entity": "病毒检测试验",
"start_offset": 25,
"end_offset": 31,
"label": "pro"
},
{
"id": 1,
"entity": "AIDS",
"start_offset": 45,
"end_offset": 49,
"label": "dis"
}
] |
3.除外先天性免疫缺陷病。 | [
{
"id": 0,
"entity": "先天性免疫缺陷病",
"start_offset": 4,
"end_offset": 12,
"label": "dis"
}
] |
【治疗】HIV感染与艾滋病的临床表现复杂，迄今尚无特效疗法，疫苗仍处在研制阶段，故临床治疗甚为困难。 | [
{
"id": 0,
"entity": "HIV感染",
"start_offset": 4,
"end_offset": 9,
"label": "dis"
},
{
"id": 1,
"entity": "艾滋病",
"start_offset": 10,
"end_offset": 13,
"label": "dis"
}
] |
目前治疗包括抗病毒治疗、提高免疫功能治疗、抗感染治疗和抗肿瘤治疗等。 | [
{
"id": 0,
"entity": "抗病毒治疗",
"start_offset": 6,
"end_offset": 11,
"label": "pro"
},
{
"id": 1,
"entity": "提高免疫功能治疗",
"start_offset": 12,
"end_offset": 20,
"label": "pro"
},
{
"id": 2,
"entity": "抗感染治疗",
"start_offset": 21,
"end_offset": 26,
"label": "pro"
},
{
"id": 3,
"entity": "抗肿瘤治疗",
"start_offset": 27,
"end_offset": 32,
"label": "pro"
}
] |
（一）抗病毒治疗1.齐多夫定（zidovudine，AZT）为核苷反转录酶抑制剂。 | [
{
"id": 0,
"entity": "抗病毒治疗",
"start_offset": 3,
"end_offset": 8,
"label": "pro"
},
{
"id": 1,
"entity": "齐多夫定",
"start_offset": 10,
"end_offset": 14,
"label": "dru"
},
{
"id": 2,
"entity": "zidovudine",
"start_offset": 15,
"end_offset": 25,
"label": "dru"
},
{
"id": 3,
"entity": "AZT",
"start_offset": 26,
"end_offset": 29,
"label": "dru"
},
{
"id": 4,
"entity": "核苷反转录酶抑制剂",
"start_offset": 31,
"end_offset": 40,
"label": "dru"
}
] |
新生儿2mg/kg口服，1.5mg/kg静脉注射，每6小时1次。 | [
{
"id": 0,
"entity": "静脉注射",
"start_offset": 20,
"end_offset": 24,
"label": "pro"
}
] |
儿童90～180mg/m2</sup>口服，每6～8小时1次（与其他抗病毒药物合用时可为180mg/m2</sup>，每12小时1次）；或120mg/m2</sup>间隔性静脉注射，每6小时1次；或每小时20mg/m2</sup>持续静脉滴注。 | [
{
"id": 0,
"entity": "抗病毒药物",
"start_offset": 34,
"end_offset": 39,
"label": "dru"
},
{
"id": 1,
"entity": "静脉注射",
"start_offset": 86,
"end_offset": 90,
"label": "pro"
},
{
"id": 2,
"entity": "静脉滴注",
"start_offset": 117,
"end_offset": 121,
"label": "pro"
}
] |
AZT常见的不良反应为血液学毒性，包括粒细胞减少症及贫血，常有头痛。 | [
{
"id": 0,
"entity": "AZT",
"start_offset": 0,
"end_offset": 3,
"label": "dru"
},
{
"id": 1,
"entity": "粒细胞减少症",
"start_offset": 19,
"end_offset": 25,
"label": "dis"
},
{
"id": 2,
"entity": "贫血",
"start_offset": 26,
"end_offset": 28,
"label": "dis"
},
{
"id": 3,
"entity": "头痛",
"start_offset": 31,
"end_offset": 33,
"label": "sym"
}
] |
不常见的副作用为肌病、肌炎和肝毒性。 | [
{
"id": 0,
"entity": "肌病",
"start_offset": 8,
"end_offset": 10,
"label": "dis"
},
{
"id": 1,
"entity": "肌炎",
"start_offset": 11,
"end_offset": 13,
"label": "dis"
},
{
"id": 2,
"entity": "肝毒性",
"start_offset": 14,
"end_offset": 17,
"label": "dis"
}
] |
肾功能减退者，应减少剂量；严重而持久的粒细胞减少症和贫血时，应暂时停药，待骨髓功能恢复再重新开始给药。 | [
{
"id": 0,
"entity": "肾功能",
"start_offset": 0,
"end_offset": 3,
"label": "ite"
},
{
"id": 1,
"entity": "粒细胞减少症",
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"end_offset": 25,
"label": "dis"
},
{
"id": 2,
"entity": "贫血",
"start_offset": 26,
"end_offset": 28,
"label": "dis"
},
{
"id": 3,
"entity": "骨髓功能",
"start_offset": 37,
"end_offset": 41,
"label": "ite"
}
] |
也可减少AZT剂量和合并使用红细胞生成素。 | [
{
"id": 0,
"entity": "AZT",
"start_offset": 4,
"end_offset": 7,
"label": "dru"
},
{
"id": 1,
"entity": "红细胞生成素",
"start_offset": 14,
"end_offset": 20,
"label": "dru"
}
] |
2.Nevirapine（NVP）为非核苷酸转录酶抑制剂。 | [
{
"id": 0,
"entity": "Nevirapine",
"start_offset": 2,
"end_offset": 12,
"label": "dru"
},
{
"id": 1,
"entity": "NVP",
"start_offset": 13,
"end_offset": 16,
"label": "dru"
},
{
"id": 2,
"entity": "非核苷酸转录酶抑制剂",
"start_offset": 18,
"end_offset": 28,
"label": "dru"
}
] |
NVP的主要不良反应是皮疹，可发展为危及生命的大疱性渗出性红斑，应即刻停药。 | [
{
"id": 0,
"entity": "NVP",
"start_offset": 0,
"end_offset": 3,
"label": "dru"
},
{
"id": 1,
"entity": "皮疹",
"start_offset": 11,
"end_offset": 13,
"label": "dis"
},
{
"id": 2,
"entity": "大疱性渗出性红斑",
"start_offset": 23,
"end_offset": 31,
"label": "dis"
}
] |
其他不良反应有嗜睡、头痛、腹泻和恶心。 | [
{
"id": 0,
"entity": "嗜睡",
"start_offset": 7,
"end_offset": 9,
"label": "sym"
},
{
"id": 1,
"entity": "头痛",
"start_offset": 10,
"end_offset": 12,
"label": "sym"
},
{
"id": 2,
"entity": "腹泻",
"start_offset": 13,
"end_offset": 15,
"label": "sym"
},
{
"id": 3,
"entity": "恶心",
"start_offset": 16,
"end_offset": 18,
"label": "sym"
}
] |
偶尔发生肝炎和肝功能损害NVP诱导肝脏细胞色素P4503A（CYP3A），能与多种药物发生相互反应，应予以重视。 | [
{
"id": 0,
"entity": "肝炎",
"start_offset": 4,
"end_offset": 6,
"label": "dis"
},
{
"id": 1,
"entity": "肝功能",
"start_offset": 7,
"end_offset": 10,
"label": "ite"
},
{
"id": 2,
"entity": "偶尔发生肝炎和肝功能损害",
"start_offset": 0,
"end_offset": 12,
"label": "sym"
},
{
"id": 3,
"entity": "NVP",
"start_offset": 12,
"end_offset": 15,
"label": "dru"
},
{
"id": 4,
"entity": "肝脏细胞色素P4503A",
"start_offset": 17,
"end_offset": 29,
"label": "bod"
},
{
"id": 5,
"entity": "CYP3A",
"start_offset": 30,
"end_offset": 35,
"label": "bod"
}
] |
这些药物包括利福平和利福布丁，口服避孕药、安眠药、口服抗凝剂、地高辛、苯妥英钠和茶碱。 | [
{
"id": 0,
"entity": "利福平",
"start_offset": 6,
"end_offset": 9,
"label": "dru"
},
{
"id": 1,
"entity": "利福布丁",
"start_offset": 10,
"end_offset": 14,
"label": "dru"
},
{
"id": 2,
"entity": "安眠药",
"start_offset": 21,
"end_offset": 24,
"label": "dru"
},
{
"id": 3,
"entity": "口服抗凝剂",
"start_offset": 25,
"end_offset": 30,
"label": "dru"
}
] |
常见不良反应为恶心、呕吐、腹泻、厌食和腹痛肝酶增高甘油三酯和胆固醇增高高血糖，以及酮症酸中毒等。 | [
{
"id": 0,
"entity": "恶心",
"start_offset": 7,
"end_offset": 9,
"label": "sym"
},
{
"id": 1,
"entity": "呕吐",
"start_offset": 10,
"end_offset": 12,
"label": "sym"
},
{
"id": 2,
"entity": "腹泻",
"start_offset": 13,
"end_offset": 15,
"label": "sym"
},
{
"id": 3,
"entity": "厌食",
"start_offset": 16,
"end_offset": 18,
"label": "sym"
},
{
"id": 4,
"entity": "腹",
"start_offset": 19,
"end_offset": 20,
"label": "bod"
},
{
"id": 5,
"entity": "腹痛",
"start_offset": 19,
"end_offset": 21,
"label": "sym"
},
{
"id": 6,
"entity": "肝酶",
"start_offset": 21,
"end_offset": 23,
"label": "bod"
},
{
"id": 7,
"entity": "肝酶增高",
"start_offset": 21,
"end_offset": 25,
"label": "sym"
},
{
"id": 8,
"entity": "甘油三酯",
"start_offset": 25,
"end_offset": 29,
"label": "bod"
},
{
"id": 9,
"entity": "胆固醇",
"start_offset": 30,
"end_offset": 33,
"label": "bod"
},
{
"id": 10,
"entity": "甘油三酯和胆固醇增高",
"start_offset": 25,
"end_offset": 35,
"label": "sym"
},
{
"id": 11,
"entity": "高血糖",
"start_offset": 35,
"end_offset": 38,
"label": "sym"
},
{
"id": 12,
"entity": "酮症酸中毒",
"start_offset": 41,
"end_offset": 46,
"label": "sym"
}
] |
该药的代谢主要受肝脏细胞色素P450A3（CYP3A）的影响，不能与抗组胺类，阿普唑仑、咪达唑仑和三唑仑等安眠药，钙离子通道阻断剂硝苯地平，麦角碱衍生物、苯丙胺、西沙必利、华法林、利福平类和某些抗精神病药物合用。 | [
{
"id": 0,
"entity": "肝脏细胞色素P450A3",
"start_offset": 8,
"end_offset": 20,
"label": "bod"
},
{
"id": 1,
"entity": "CYP3A",
"start_offset": 21,
"end_offset": 26,
"label": "bod"
},
{
"id": 2,
"entity": "抗组胺类",
"start_offset": 34,
"end_offset": 38,
"label": "dru"
},
{
"id": 3,
"entity": "阿普唑仑",
"start_offset": 39,
"end_offset": 43,
"label": "dru"
},
{
"id": 4,
"entity": "咪达唑仑",
"start_offset": 44,
"end_offset": 48,
"label": "dru"
},
{
"id": 5,
"entity": "三唑仑",
"start_offset": 49,
"end_offset": 52,
"label": "dru"
},
{
"id": 6,
"entity": "安眠药",
"start_offset": 53,
"end_offset": 56,
"label": "dru"
},
{
"id": 7,
"entity": "钙离子通道阻断剂硝苯地平",
"start_offset": 57,
"end_offset": 69,
"label": "dru"
},
{
"id": 8,
"entity": "麦角碱衍生物",
"start_offset": 70,
"end_offset": 76,
"label": "dru"
},
{
"id": 9,
"entity": "苯丙胺",
"start_offset": 77,
"end_offset": 80,
"label": "dru"
},
{
"id": 10,
"entity": "西沙必利",
"start_offset": 81,
"end_offset": 85,
"label": "dru"
},
{
"id": 11,
"entity": "华法林",
"start_offset": 86,
"end_offset": 89,
"label": "dru"
},
{
"id": 12,
"entity": "利福平类",
"start_offset": 90,
"end_offset": 94,
"label": "dru"
},
{
"id": 13,
"entity": "抗精神病药物",
"start_offset": 97,
"end_offset": 103,
"label": "dru"
}
] |
为减少胃肠道反应，开始剂量宜小，在5天内逐渐增加到足量。 | [
{
"id": 0,
"entity": "胃肠道",
"start_offset": 3,
"end_offset": 6,
"label": "bod"
}
] |
抗病毒治疗的指征：①有HIV感染的临床症状，包括临床表现期A、B或C；②CD4+</sup>T淋巴细胞绝对数或百分率下降，达到中度或严重免疫抑制；③年龄在1岁以内的患儿，无论其临床免疫学和病毒负荷状况；④年龄大于1岁患儿无临床症状者，应严密观察未开始治疗的病例其临床、免疫学和病毒负荷状况，一旦发现以下情况即开始治疗：HIVRVA复制物数量极高或进行性增高；CD4+</sup>T淋巴细胞绝对数或百分率很快下降，达到中度免疫抑制，出现临床症状。 | [
{
"id": 0,
"entity": "抗病毒治疗",
"start_offset": 0,
"end_offset": 5,
"label": "pro"
},
{
"id": 1,
"entity": "HIV感染",
"start_offset": 11,
"end_offset": 16,
"label": "dis"
},
{
"id": 2,
"entity": "T淋巴细胞绝对数",
"start_offset": 46,
"end_offset": 54,
"label": "ite"
},
{
"id": 3,
"entity": "病毒",
"start_offset": 94,
"end_offset": 96,
"label": "mic"
},
{
"id": 4,
"entity": "病毒",
"start_offset": 138,
"end_offset": 140,
"label": "mic"
},
{
"id": 5,
"entity": "HIVRVA复制物",
"start_offset": 159,
"end_offset": 168,
"label": "dru"
},
{
"id": 6,
"entity": "T淋巴细胞绝对数",
"start_offset": 189,
"end_offset": 197,
"label": "ite"
}
] |
（二）免疫学治疗1.IL-2每日300万～1800万U，静脉或皮下注射，5天为一疗程；休息至少8周后开始下一疗程。 | [
{
"id": 0,
"entity": "免疫学治疗",
"start_offset": 3,
"end_offset": 8,
"label": "pro"
},
{
"id": 1,
"entity": "IL-2",
"start_offset": 10,
"end_offset": 14,
"label": "pro"
}
] |
应监测血浆病毒负荷，控制在50复制物/μl以下。 | [
{
"id": 0,
"entity": "病毒",
"start_offset": 5,
"end_offset": 7,
"label": "mic"
}
] |
2.IL-12IL-12是另一个有治疗价值的细胞因子，体外实验表明IL-12能增强免疫细胞杀伤被HIV感染细胞的能力。 | [
{
"id": 0,
"entity": "IL-12",
"start_offset": 2,
"end_offset": 7,
"label": "pro"
},
{
"id": 1,
"entity": "IL-12",
"start_offset": 7,
"end_offset": 12,
"label": "pro"
},
{
"id": 2,
"entity": "细胞因子",
"start_offset": 22,
"end_offset": 26,
"label": "bod"
},
{
"id": 3,
"entity": "IL-12",
"start_offset": 33,
"end_offset": 38,
"label": "pro"
},
{
"id": 4,
"entity": "免疫细胞",
"start_offset": 41,
"end_offset": 45,
"label": "bod"
},
{
"id": 5,
"entity": "HIV感染细胞",
"start_offset": 48,
"end_offset": 55,
"label": "dis"
}
] |
（三）支持治疗静脉注射丙种球蛋白（IVIG）可减少AIDS患儿合并细菌感染的发生率和缩短住院时间。 | [
{
"id": 0,
"entity": "支持治疗",
"start_offset": 3,
"end_offset": 7,
"label": "pro"
},
{
"id": 1,
"entity": "静脉注射丙种球蛋白",
"start_offset": 7,
"end_offset": 16,
"label": "pro"
},
{
"id": 2,
"entity": "IVIG",
"start_offset": 17,
"end_offset": 21,
"label": "pro"
},
{
"id": 3,
"entity": "AIDS",
"start_offset": 25,
"end_offset": 29,
"label": "dis"
},
{
"id": 4,
"entity": "细菌感染",
"start_offset": 33,
"end_offset": 37,
"label": "dis"
}
] |
IVIG对预防弓形体感染无效，也不能延长患儿的生命。 | [
{
"id": 0,
"entity": "IVIG",
"start_offset": 0,
"end_offset": 4,
"label": "pro"
},
{
"id": 1,
"entity": "弓形体感染",
"start_offset": 7,
"end_offset": 12,
"label": "dis"
}
] |
每月定期使用IVIG的指征为低丙种球蛋白血症，抗体反应低下和适当的抗微生物不能控制的反复感染。 | [
{
"id": 0,
"entity": "IVIG",
"start_offset": 6,
"end_offset": 10,
"label": "pro"
},
{
"id": 1,
"entity": "低丙种球蛋白血症",
"start_offset": 14,
"end_offset": 22,
"label": "dis"
},
{
"id": 2,
"entity": "抗体",
"start_offset": 23,
"end_offset": 25,
"label": "bod"
}
] |
（四）抗感染治疗AIDS患儿由于免疫功能低下，极易病原微生物感染及机会感染。 | [
{
"id": 0,
"entity": "抗感染治疗",
"start_offset": 3,
"end_offset": 8,
"label": "pro"
},
{
"id": 1,
"entity": "AIDS",
"start_offset": 8,
"end_offset": 12,
"label": "dis"
},
{
"id": 2,
"entity": "病原微生物感染",
"start_offset": 25,
"end_offset": 32,
"label": "dis"
}
] |
应根据临床病原的种类，积极进行抗感染治疗及必要的预防治疗。 | [
{
"id": 0,
"entity": "抗感染治疗",
"start_offset": 15,
"end_offset": 20,
"label": "pro"
}
] |
如针对肺炎、败血症和脑膜炎等细菌感染疾病，选用敏感抗生素治疗；针对结核病进行抗结核治疗，治疗时间应适当延长，不得少于12个月。 | [
{
"id": 0,
"entity": "肺炎",
"start_offset": 3,
"end_offset": 5,
"label": "dis"
},
{
"id": 1,
"entity": "败血症",
"start_offset": 6,
"end_offset": 9,
"label": "dis"
},
{
"id": 2,
"entity": "脑膜炎",
"start_offset": 10,
"end_offset": 13,
"label": "dis"
},
{
"id": 3,
"entity": "细菌感染疾病",
"start_offset": 14,
"end_offset": 20,
"label": "dis"
},
{
"id": 4,
"entity": "抗生素治疗",
"start_offset": 25,
"end_offset": 30,
"label": "pro"
},
{
"id": 5,
"entity": "结核病",
"start_offset": 33,
"end_offset": 36,
"label": "dis"
},
{
"id": 6,
"entity": "抗结核治疗",
"start_offset": 38,
"end_offset": 43,
"label": "pro"
}
] |
有结核接触史或PPD皮肤试验强阳性的HIV感染儿童，应用异烟肼预防性治疗9～12个月。 | [
{
"id": 0,
"entity": "PPD皮肤试验",
"start_offset": 7,
"end_offset": 14,
"label": "pro"
},
{
"id": 1,
"entity": "HIV感染",
"start_offset": 18,
"end_offset": 23,
"label": "dis"
},
{
"id": 2,
"entity": "异烟肼预防性治疗",
"start_offset": 28,
"end_offset": 36,
"label": "pro"
}
] |
卡氏肺囊虫肺炎是AIDS常见的机会感染，如果CD4+</sup>T细胞计数1～5岁＜500/μl或6～12岁＜200/μl，并有临床表现者，应及时预防，常用TMP/SMZ每天150mg/m2</sup>，分2次口服，连服3天停药4天。 | [
{
"id": 0,
"entity": "卡氏肺囊虫肺炎",
"start_offset": 0,
"end_offset": 7,
"label": "dis"
},
{
"id": 1,
"entity": "AIDS",
"start_offset": 8,
"end_offset": 12,
"label": "dis"
},
{
"id": 2,
"entity": "T细胞计数",
"start_offset": 32,
"end_offset": 37,
"label": "ite"
}
] |
如临床有病毒、真菌及弓形虫等感染的表现，应选用相应的药物治疗。 | [
{
"id": 0,
"entity": "病毒",
"start_offset": 4,
"end_offset": 6,
"label": "mic"
},
{
"id": 1,
"entity": "真菌",
"start_offset": 7,
"end_offset": 9,
"label": "mic"
},
{
"id": 2,
"entity": "弓形虫",
"start_offset": 10,
"end_offset": 13,
"label": "mic"
}
] |
对AIDS的治疗，目前主张联合用药。 | [
{
"id": 0,
"entity": "AIDS",
"start_offset": 1,
"end_offset": 5,
"label": "dis"
}
] |
包括抗病毒治疗+免疫学治疗联合用药以及不同类型抗病毒药物间联合用药。 | [
{
"id": 0,
"entity": "抗病毒治疗",
"start_offset": 2,
"end_offset": 7,
"label": "pro"
},
{
"id": 1,
"entity": "免疫学治疗",
"start_offset": 8,
"end_offset": 13,
"label": "pro"
},
{
"id": 2,
"entity": "抗病毒药物",
"start_offset": 23,
"end_offset": 28,
"label": "dru"
}
] |
如AZT+NVP+IL-2联合用药治疗。 | [
{
"id": 0,
"entity": "AZT+NVP+IL-2联合用药治疗",
"start_offset": 1,
"end_offset": 19,
"label": "pro"
}
] |
【预防】预防小儿艾滋病的关键是预防育龄妇女感染HIV和筛查献血员。 | [
{
"id": 0,
"entity": "小儿艾滋病",
"start_offset": 6,
"end_offset": 11,
"label": "dis"
},
{
"id": 1,
"entity": "HIV",
"start_offset": 23,
"end_offset": 26,
"label": "mic"
}
] |
母亲如果是AIDS病人或HIV感染者，应采取严格措施，以防传给后代，因为在怀孕、分娩和哺乳期间均可使小儿感染。 | [
{
"id": 0,
"entity": "AIDS",
"start_offset": 5,
"end_offset": 9,
"label": "dis"
},
{
"id": 1,
"entity": "HIV感染",
"start_offset": 12,
"end_offset": 17,
"label": "dis"
}
] |
严禁进口与使用污染AIDS病毒的血液制品。 | [
{
"id": 0,
"entity": "AIDS病毒",
"start_offset": 9,
"end_offset": 15,
"label": "mic"
},
{
"id": 1,
"entity": "血液",
"start_offset": 16,
"end_offset": 18,
"label": "bod"
}
] |
应广泛宣传AIDS的流行情况及其严重性。 | [
{
"id": 0,
"entity": "AIDS",
"start_offset": 5,
"end_offset": 9,
"label": "dis"
}
] |
【预后】小儿AIDS预后极为恶劣，约75%垂直感染的AIDS患儿在发病后1年内死亡。 | [
{
"id": 0,
"entity": "小儿AIDS",
"start_offset": 4,
"end_offset": 10,
"label": "dis"
},
{
"id": 1,
"entity": "AIDS",
"start_offset": 26,
"end_offset": 30,
"label": "dis"
}
] |
近年新的诊断技术的临床应用和抑制HIV复制的新型药物的研制开发，正为预防和控制人类的这种灾难性疾病带来曙光。 | [
{
"id": 0,
"entity": "抑制HIV复制",
"start_offset": 14,
"end_offset": 21,
"label": "pro"
}
] |
二、遗传病分类基因组的内部结构及复杂的功能使其对损伤极为敏感，而导致疾病。 | [
{
"id": 0,
"entity": "遗传病",
"start_offset": 2,
"end_offset": 5,
"label": "dis"
},
{
"id": 1,
"entity": "基因组",
"start_offset": 7,
"end_offset": 10,
"label": "bod"
}
] |
遗传性疾病的程度根据基因突变的不同类型有很大的区别，可从丢失或多一条染色体到改变一个基因的碱基对，其后果亦表现多种多样，有些根本不能存活而流产，有些产生特异的临床综合征，有些不出现临床症状。 | [
{
"id": 0,
"entity": "遗传性疾病",
"start_offset": 0,
"end_offset": 5,
"label": "dis"
},
{
"id": 1,
"entity": "基因",
"start_offset": 10,
"end_offset": 12,
"label": "bod"
},
{
"id": 2,
"entity": "染色体",
"start_offset": 34,
"end_offset": 37,
"label": "bod"
},
{
"id": 3,
"entity": "基因",
"start_offset": 42,
"end_offset": 44,
"label": "bod"
},
{
"id": 4,
"entity": "碱基对",
"start_offset": 45,
"end_offset": 48,
"label": "bod"
}
] |
根据Mckusick的统计，到1966年总共描述了148种遗传病，1986年为3907种，随着分子克隆和人类基因组计划的进展，2001年已经报道的遗传病达到13000多种，2010年达到20000余种。 | [
{
"id": 0,
"entity": "基因组",
"start_offset": 54,
"end_offset": 57,
"label": "bod"
},
{
"id": 1,
"entity": "遗传病",
"start_offset": 73,
"end_offset": 76,
"label": "dis"
}
] |
儿科领域的遗传病种类繁多，机制复杂，研究又细分为细胞遗传学、生化遗传学、免疫遗传学及药物遗传学等。 | [
{
"id": 0,
"entity": "遗传病",
"start_offset": 5,
"end_offset": 8,
"label": "dis"
}
] |
遗传因素造成的心血管、呼吸、消化、肾脏、神经、血液、骨骼、结缔组织、皮肤及五官等多系统器官遗传病及先天畸形均可在新生儿时期发现。 | [
{
"id": 0,
"entity": "心血管",
"start_offset": 7,
"end_offset": 10,
"label": "bod"
},
{
"id": 1,
"entity": "呼吸",
"start_offset": 11,
"end_offset": 13,
"label": "bod"
},
{
"id": 2,
"entity": "消化",
"start_offset": 14,
"end_offset": 16,
"label": "bod"
},
{
"id": 3,
"entity": "肾脏",
"start_offset": 17,
"end_offset": 19,
"label": "bod"
},
{
"id": 4,
"entity": "神经",
"start_offset": 20,
"end_offset": 22,
"label": "bod"
},
{
"id": 5,
"entity": "血液",
"start_offset": 23,
"end_offset": 25,
"label": "bod"
},
{
"id": 6,
"entity": "骨骼",
"start_offset": 26,
"end_offset": 28,
"label": "bod"
},
{
"id": 7,
"entity": "结缔组织",
"start_offset": 29,
"end_offset": 33,
"label": "bod"
},
{
"id": 8,
"entity": "皮肤",
"start_offset": 34,
"end_offset": 36,
"label": "bod"
},
{
"id": 9,
"entity": "五官",
"start_offset": 37,
"end_offset": 39,
"label": "bod"
},
{
"id": 10,
"entity": "先天畸形",
"start_offset": 49,
"end_offset": 53,
"label": "dis"
}
] |
根据遗传物质的结构和功能改变的不同，可将遗传病分为五类：1.染色体病（chromosomaldisorders）指染色体数目异常，或者染色体结构异常，包括缺失、易位、倒位、环形染色体和等臂染色体等，造成许多基因物质的得失而引起疾病，已经明确的染色体畸变综合征有数百种。 | [
{
"id": 0,
"entity": "染色体病",
"start_offset": 30,
"end_offset": 34,
"label": "dis"
},
{
"id": 1,
"entity": "染色体",
"start_offset": 57,
"end_offset": 60,
"label": "bod"
},
{
"id": 2,
"entity": "染色体数目异常",
"start_offset": 57,
"end_offset": 64,
"label": "sym"
},
{
"id": 3,
"entity": "染色体",
"start_offset": 67,
"end_offset": 70,
"label": "bod"
},
{
"id": 4,
"entity": "染色体结构异常",
"start_offset": 67,
"end_offset": 74,
"label": "sym"
},
{
"id": 5,
"entity": "缺失",
"start_offset": 77,
"end_offset": 79,
"label": "sym"
},
{
"id": 6,
"entity": "易位",
"start_offset": 80,
"end_offset": 82,
"label": "sym"
},
{
"id": 7,
"entity": "倒位",
"start_offset": 83,
"end_offset": 85,
"label": "sym"
},
{
"id": 8,
"entity": "环形染色体",
"start_offset": 86,
"end_offset": 91,
"label": "bod"
},
{
"id": 9,
"entity": "等臂染色体",
"start_offset": 92,
"end_offset": 97,
"label": "bod"
},
{
"id": 10,
"entity": "基因",
"start_offset": 103,
"end_offset": 105,
"label": "bod"
},
{
"id": 11,
"entity": "染色体畸变综合征",
"start_offset": 121,
"end_offset": 129,
"label": "dis"
}
] |
2.单基因遗传病（singlegenediseases）单基因病是指由单个基因突变所致的遗传病，每种单基因病均源自相关基因的突变，此类疾病目前报道已达数千余种，但每种疾病的发病率非常低。 | [
{
"id": 0,
"entity": "单基因遗传病",
"start_offset": 2,
"end_offset": 8,
"label": "dis"
},
{
"id": 1,
"entity": "单基因",
"start_offset": 28,
"end_offset": 31,
"label": "bod"
},
{
"id": 2,
"entity": "基因",
"start_offset": 37,
"end_offset": 39,
"label": "bod"
},
{
"id": 3,
"entity": "遗传病",
"start_offset": 44,
"end_offset": 47,
"label": "dis"
},
{
"id": 4,
"entity": "单基因",
"start_offset": 50,
"end_offset": 53,
"label": "bod"
},
{
"id": 5,
"entity": "基因",
"start_offset": 59,
"end_offset": 61,
"label": "bod"
}
] |
在一对基因中只要有一个致病基因存在就能表现性状的称显性基因，一对基因需2个基因同时存在病变时才能表现性状的称隐性基因。 | [
{
"id": 0,
"entity": "基因",
"start_offset": 3,
"end_offset": 5,
"label": "bod"
},
{
"id": 1,
"entity": "基因",
"start_offset": 13,
"end_offset": 15,
"label": "bod"
},
{
"id": 2,
"entity": "基因",
"start_offset": 27,
"end_offset": 29,
"label": "bod"
},
{
"id": 3,
"entity": "基因",
"start_offset": 32,
"end_offset": 34,
"label": "bod"
},
{
"id": 4,
"entity": "基因",
"start_offset": 37,
"end_offset": 39,
"label": "bod"
},
{
"id": 5,
"entity": "隐性基因",
"start_offset": 54,
"end_offset": 58,
"label": "bod"
}
] |
单基因遗传病按不同遗传模式分为以下5类遗传方式（表14-14）。 | [
{
"id": 0,
"entity": "单基因遗传病",
"start_offset": 0,
"end_offset": 6,
"label": "dis"
}
] |
表14-1常见单基因遗传病与基因缺陷关系表续表（1）常染色体显性遗传（autosomaldominantinheritance）：致病基因在常染色体上，亲代只要有一个显性致病基因传递给子代，子代就会表现性状。 | [
{
"id": 0,
"entity": "单基因遗传病",
"start_offset": 7,
"end_offset": 13,
"label": "dis"
},
{
"id": 1,
"entity": "基因缺陷",
"start_offset": 14,
"end_offset": 18,
"label": "dis"
},
{
"id": 2,
"entity": "常染色体显性遗传",
"start_offset": 26,
"end_offset": 34,
"label": "dis"
},
{
"id": 3,
"entity": "基因",
"start_offset": 67,
"end_offset": 69,
"label": "bod"
},
{
"id": 4,
"entity": "常染色体",
"start_offset": 70,
"end_offset": 74,
"label": "bod"
},
{
"id": 5,
"entity": "基因",
"start_offset": 87,
"end_offset": 89,
"label": "bod"
}
] |
例如软骨发育不全及成骨不全。 | [
{
"id": 0,
"entity": "软骨发育不全",
"start_offset": 2,
"end_offset": 8,
"label": "sym"
},
{
"id": 1,
"entity": "成骨不全",
"start_offset": 9,
"end_offset": 13,
"label": "sym"
}
] |
但是，有时由于疾病外显率的不同，可表现为完全显性、不完全显性及延迟显性（杂合子Aa在生命早期显性基因并不表达，待一定年龄后才显达，如遗传性舞蹈病等）等。 | [
{
"id": 0,
"entity": "基因",
"start_offset": 48,
"end_offset": 50,
"label": "bod"
},
{
"id": 1,
"entity": "遗传性舞蹈病",
"start_offset": 66,
"end_offset": 72,
"label": "dis"
}
] |
（2）常染色体隐性遗传（autosomalrecessiveinheritance）：致病基因在常染色体上，为一对隐性基因。 | [
{
"id": 0,
"entity": "常染色体隐性遗传",
"start_offset": 3,
"end_offset": 11,
"label": "dis"
},
{
"id": 1,
"entity": "致病基因",
"start_offset": 43,
"end_offset": 47,
"label": "bod"
},
{
"id": 2,
"entity": "常染色体",
"start_offset": 48,
"end_offset": 52,
"label": "bod"
},
{
"id": 3,
"entity": "隐性基因",
"start_offset": 57,
"end_offset": 61,
"label": "bod"
}
] |
只带1个致病隐性基因的个体不发病，为致病基因携带者，只有致病纯合子才致病。 | [
{
"id": 0,
"entity": "致病隐性基因",
"start_offset": 4,
"end_offset": 10,
"label": "bod"
},
{
"id": 1,
"entity": "致病基因",
"start_offset": 18,
"end_offset": 22,
"label": "bod"
},
{
"id": 2,
"entity": "致病纯合子",
"start_offset": 28,
"end_offset": 33,
"label": "bod"
}
] |
多数遗传代谢病为常染色体隐性遗传，如苯丙酮尿症及白化病等。 | [
{
"id": 0,
"entity": "常染色体隐性遗传",
"start_offset": 8,
"end_offset": 16,
"label": "dis"
},
{
"id": 1,
"entity": "苯丙酮尿症",
"start_offset": 18,
"end_offset": 23,
"label": "dis"
},
{
"id": 2,
"entity": "白化病",
"start_offset": 24,
"end_offset": 27,
"label": "dis"
}
] |
（3）X连锁隐性遗传（X-linkedrecessiveinheritance）：定位于X染色体上的致病基因随X染色体而传递疾病。 | [
{
"id": 0,
"entity": "X连锁隐性遗传",
"start_offset": 3,
"end_offset": 10,
"label": "dis"
},
{
"id": 1,
"entity": "X染色体",
"start_offset": 44,
"end_offset": 48,
"label": "bod"
},
{
"id": 2,
"entity": "致病基因",
"start_offset": 50,
"end_offset": 54,
"label": "bod"
},
{
"id": 3,
"entity": "X染色体",
"start_offset": 55,
"end_offset": 59,
"label": "bod"
}
] |
女性带有一个隐性致病基因，为表型正常的致病基因携带者。 | [
{
"id": 0,
"entity": "隐性致病基因",
"start_offset": 6,
"end_offset": 12,
"label": "bod"
},
{
"id": 1,
"entity": "致病基因",
"start_offset": 19,
"end_offset": 23,
"label": "bod"
}
] |
男性只有一条X染色体，即使是隐性基因，也会发病，如血友病及进行性肌营养不良等。 | [
{
"id": 0,
"entity": "X染色体",
"start_offset": 6,
"end_offset": 10,
"label": "bod"
},
{
"id": 1,
"entity": "隐性基因",
"start_offset": 14,
"end_offset": 18,
"label": "bod"
},
{
"id": 2,
"entity": "血友病",
"start_offset": 25,
"end_offset": 28,
"label": "dis"
},
{
"id": 3,
"entity": "进行性肌营养不良",
"start_offset": 29,
"end_offset": 37,
"label": "dis"
}
] |
（4）X连锁显性遗传（X-linkeddominantinheritance）：X连锁显性遗传致病基因在X染色体上。 | [
{
"id": 0,
"entity": "X连锁显性遗传",
"start_offset": 3,
"end_offset": 10,
"label": "dis"
},
{
"id": 1,
"entity": "X连锁显性遗传",
"start_offset": 40,
"end_offset": 47,
"label": "dis"
},
{
"id": 2,
"entity": "致病基因",
"start_offset": 47,
"end_offset": 51,
"label": "bod"
},
{
"id": 3,
"entity": "染色体",
"start_offset": 53,
"end_offset": 56,
"label": "bod"
}
] |
女性患者病情较轻，如抗维生素D佝偻病。 | [
{
"id": 0,
"entity": "抗维生素D佝偻病",
"start_offset": 10,
"end_offset": 18,
"label": "dis"
}
] |
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