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（三）神经系统功能障碍除继发于部分颅内肿瘤者外，大多数脑积水无明显的神经系统定位体征。 | [
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但随着病情的进展，婴幼儿或儿童可出现运动功能减退等。 | [
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重度脑积水由于极度扩大的脑室枕角压迫枕叶皮质，或扩大的第三脑室的搏动压迫视交叉，引起视力减退，甚至失明，眼底可见原发性视神经萎缩。 | [
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第四脑室扩大明显时，可出现小脑或脑干受累两眼上视障碍及锥体束损害等症状。 | [
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脑积水晚期或病情严重时，则出现生长发育障碍、智力减退、肢体痉挛性瘫痪及意识障碍等，最终往往是由于营养不良、全身衰竭及合并呼吸道感染精神不振、迟钝以及易激惹等，头部因增大过重，则头颈控制力差，一般不能坐及站立，多见于婴幼儿。 | [
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【诊断】婴幼儿脑积水，根据其头颅快速增大及其特有的外观形态等特征，可做出临床诊断，尚需进一步做神经影像学检查（头颅CT或MRI）予以确定诊断。 | [
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随着儿童发病年龄的增大或者由于脑积水进展缓慢，头颅改变可能不典型，则需要根据其他临床表现，并借助有关辅助检查进行诊断。 | [
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头颅X线检查可见颅腔扩大、颅骨变薄，脑回压迹加深，颅缝分离、囟门扩大，头与面比例明显增大头颅CT和MRI无创性检查是目前最常用的方法，结果最可靠，既可明确脑积水的诊断，又可进一步了解脑积水的原因、种类、阻塞部位及脑室扩大的程度，以便选择适当的治疗措施。 | [
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特别是头颅MRI在显示脑脊液通路的阻塞和引起阻塞的原因方面，尤其是中脑导水管和第四脑室附近的畸形如Arnold-Chiari畸形等，有着无可比拟的优越性。 | [
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而头颅B超可用于胎儿脑积水的宫内诊断，为孕妇是否中止妊娠提供依据。 | [
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【治疗】无论何种原因引起的脑积水均以手术治疗为主，对有进展的脑积水更应及时采取手术治疗。 | [
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手术治疗可以去除病因或重建脑脊液循环通路，但目前手术效果尚未达到满意的境地。 | [
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后天性脑积水还需同时进行原发病因的治疗。 | [
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（一）手术治疗1.脑脊液分流术目的是通过重建脑脊液循环通路，以达到脑脊液分流的目的。 | [
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按分流的终点不同，可分为颅内分流和颅外分流两种。 | [
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近年有研究报道在神经内窥镜下行第三脑室底脚间池造瘘微创手术，是一种治疗中脑导水管狭窄性梗阻性脑积水的新方法。 | [
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晚近香港大学神经外科专家创用脑室-上矢状窦分流术（吻合术），可避免其他分流术的缺点，交通性和非交通性脑积水病例均可采用。 | [
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分流术效果除取决于手术本身外，与术前小儿脑皮质保留之厚度及有无合并其他畸形有关。 | [
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术后经常随访，也将有利于及时发现分流管有无不通畅、远端分流管是否足够长或有无继发感染等情况，以便给予相应处理。 | [
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最近有研究发现，分流术本身造成的脑损害或术后并发症（如感染及硬脑膜下血肿等）可导致癫痫发作，2岁内行分流术者易发生，发生率高达20%～50%。 | [
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2.减少脑脊液产生的手术主要为脉络丛切除术或电灼术。 | [
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3.去除病因的手术如切除颅内肿瘤及脓肿等占位性病变，恢复脑脊液循环通路。 | [
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至于通过手术能解除先天发育畸形所致阻塞原因者很少，如对Dandy-Walker畸形可行第四脑室正中孔切开术；对Arnold-Chiari畸形可行后颅窝及上颈段椎板切除减压术。 | [
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中脑导水管阻塞性病变除先天性隔膜外，手术常造成脑干损伤，很少采用。 | [
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（二）药物治疗目的在于暂时减少脑脊液的分泌或增加机体水分的排出（利尿），降低颅内压。 | [
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主要使用乙酰唑胺（醋氮酰胺）25～50mg/（kg•d），通过抑制脉络膜丛上皮细胞Na+-K+ATP酶以减少脑脊液的分泌；或用脱水剂如甘露醇、利尿剂如双氢克脲噻等，以增加水分的排出。 | [
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对于有蛛网膜粘连地塞米松口服、肌内注射或鞘内注射治疗。 | [
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"start_offset": 15,
"end_offset": 19,
"label": "pro"
},
{
"id": 4,
"entity": "鞘内注射",
"start_offset": 20,
"end_offset": 24,
"label": "pro"
}
] |
【预后】脑积水的预后差别较大，主要取决于治疗的及时与否和引起脑积水的病因及病变程度。 | [
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"entity": "脑积水",
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"label": "dis"
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{
"id": 1,
"entity": "脑积水",
"start_offset": 30,
"end_offset": 33,
"label": "dis"
}
] |
如能及时手术根治阻塞的原因，则有可能达到临床痊愈；如阻塞原因难以解除，或合并其他先天畸形，则预后不良。 | [
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"id": 0,
"entity": "手术",
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{
"id": 1,
"entity": "先天畸形",
"start_offset": 40,
"end_offset": 44,
"label": "dis"
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] |
部分（约1/3）脑积水患儿的病情可以自然静止，不再发展。 | [
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"entity": "脑积水",
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] |
脑积水常见的后遗症为大头畸形、精神发育迟滞、癫痫及失明先天性脑积水患儿，虽然有大约20%可停止发展，脑脊液的分泌和吸收趋于平衡，称为静止性脑积水，但是约半数患儿可在一年半内死亡。 | [
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"entity": "脑积水",
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{
"id": 1,
"entity": "癫痫",
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{
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{
"id": 5,
"entity": "脑脊液",
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{
"id": 6,
"entity": "静止性脑积水",
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"end_offset": 72,
"label": "dis"
}
] |
剩下约半数可以继续存活的先天性脑积水患儿，仅约15%智商接近正常，超过2/3有神经功能障碍，如共济失调、痉挛性瘫痪以及感知觉障碍等。 | [
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"entity": "先天性脑积水",
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{
"id": 1,
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{
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"entity": "痉挛性瘫痪",
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},
{
"id": 4,
"entity": "感知觉障碍",
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"label": "dis"
}
] |
有研究认为脑脊液的生化分析有助于判断脑积水的预后，如脑脊液中脂肪酸的浓度与颅内压增高可成比例升高，阻塞性脑积水解除后，脂肪酸浓度下降分流术后仍持续性升高，多提示预后不良。 | [
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"entity": "脑脊液",
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{
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{
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{
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"entity": "脂肪酸浓度",
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{
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"entity": "脂肪酸浓度下降",
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"label": "sym"
},
{
"id": 8,
"entity": "分流术",
"start_offset": 66,
"end_offset": 69,
"label": "pro"
}
] |
第四篇儿童营养和营养性疾病第一章儿童营养需要人类的健康主要受遗传和环境这两大因素影响，环境因素中营养则起到了非常重要的作用。 | [
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"entity": "营养性疾病",
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"label": "dis"
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] |
目前已有大量研究显示，在生命早期和生长期的儿童，无论是营养缺乏还是营养过剩，或者营养不均衡，都会引起疾病或影响疾病的预后，并且还与成年期的多种疾病的发生、发展，甚至与死亡率密切相关。 | [
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"entity": "营养缺乏",
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{
"id": 1,
"entity": "营养过剩",
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{
"id": 2,
"entity": "营养不均衡",
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"label": "dis"
}
] |
为此，用现代科学医学技术对不同年龄阶段、不同疾病状态下的儿童建立合理的临床营养支持是促进我国儿科医学事业发展、提高我国儿童健康的重要保证，也是社会进步和家庭幸福的基础。 | [
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"entity": "儿科",
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"label": "dep"
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] |
二、术前准备肾活检是创伤性检查，其成功率及安全性直接与充分、细致的术前准备及穿刺者的经验有关，切忌掉以轻心，术前应做好下列准备工作：①详细询问病史，特别注意有无出血性疾病史；全面体检，排除出血性疾病、全身性感染和心肺疾患，控制血压。 | [
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"entity": "心肺疾患",
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"label": "dis"
},
{
"id": 8,
"entity": "血压",
"start_offset": 113,
"end_offset": 115,
"label": "ite"
}
] |
术前肌注小剂量镇静剂。 | [
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"entity": "肌注小剂量镇静剂",
"start_offset": 2,
"end_offset": 10,
"label": "pro"
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] |
③训练患儿在俯卧位时呼气和屏气，还要训练床上排尿。 | [
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"id": 0,
"entity": "尿",
"start_offset": 23,
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] |
④测定血红蛋白、出凝血时间、KPTT、凝血酶原时间及血小板计数，血尿素氮、肌酐以及内生肌酐清除率。 | [
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"entity": "血红蛋白",
"start_offset": 3,
"end_offset": 7,
"label": "ite"
},
{
"id": 1,
"entity": "出凝血时间",
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{
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"entity": "KPTT",
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{
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"entity": "凝血酶原时间",
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},
{
"id": 4,
"entity": "血小板计数",
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"label": "ite"
},
{
"id": 5,
"entity": "血尿素氮",
"start_offset": 32,
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"label": "ite"
},
{
"id": 6,
"entity": "肌酐",
"start_offset": 37,
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"label": "ite"
},
{
"id": 7,
"entity": "内生肌酐清除率",
"start_offset": 41,
"end_offset": 48,
"label": "ite"
}
] |
鉴定血型，必要时备血。 | [
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"entity": "血",
"start_offset": 9,
"end_offset": 10,
"label": "bod"
}
] |
⑤肾功能明显损害的患儿行肾活检前必须透析数次，改善一般情况。 | [
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"entity": "肾功能明显损害",
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{
"id": 2,
"entity": "透析",
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] |
但注意如行血透者，穿刺前24小时行无肝素透析，并复查试管法凝血时间。 | [
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第二十二章肝豆状核变性肝豆状核变性（hepatolenticulardegeneration）是一种常染色体隐性遗传病。 | [
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{
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"entity": "常染色体隐性遗传病",
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] |
1912年KinnerWilson首次对本病的临床表现及病理解剖作了全面的描述，因而本病又称Wilson病（Wilsondisease，WD）。 | [
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{
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"entity": "WD",
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13号染色体编码的铜转运P型ATP酶的缺乏或功能异常引起的铜代谢障碍，使铜在肝脏内逐渐蓄积，当铜超过了肝脏储存能力，随之铜释放入血，引起溶血及组织中铜的沉积，造成组织、器官中毒和功能异常。 | [
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{
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{
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"entity": "铜",
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{
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{
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{
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{
"id": 6,
"entity": "铜",
"start_offset": 60,
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"label": "bod"
},
{
"id": 7,
"entity": "血",
"start_offset": 64,
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"label": "bod"
},
{
"id": 8,
"entity": "溶血",
"start_offset": 68,
"end_offset": 70,
"label": "dis"
},
{
"id": 9,
"entity": "铜",
"start_offset": 74,
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"label": "bod"
},
{
"id": 10,
"entity": "组织",
"start_offset": 81,
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"label": "bod"
},
{
"id": 11,
"entity": "器官",
"start_offset": 84,
"end_offset": 86,
"label": "bod"
}
] |
WD的实验室诊断依据包括血清铜蓝蛋白和血铜氧化酶的降低、24小时尿铜增加肝铜含量增加K-F环阳性WD的治疗包括螯合剂（青霉胺及曲恩汀）、锌剂、低铜饮食以及肝脏移植。 | [
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{
"id": 1,
"entity": "血清铜蓝蛋白",
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{
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{
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"entity": "24小时尿铜",
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{
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"entity": "24小时尿铜增加",
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{
"id": 5,
"entity": "肝铜含量",
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{
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"entity": "肝铜含量增加",
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{
"id": 7,
"entity": "K-F环",
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{
"id": 8,
"entity": "K-F环阳性",
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{
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{
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"entity": "螯合剂",
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},
{
"id": 11,
"entity": "青霉胺",
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{
"id": 12,
"entity": "曲恩汀",
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"label": "dru"
},
{
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"entity": "锌剂",
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{
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"entity": "低铜饮食",
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},
{
"id": 15,
"entity": "肝脏移植",
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"label": "pro"
}
] |
随着WD的分子基因机制的不断阐明，基因治疗将是最彻底的治疗手段。 | [
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【流行病学】WD是一影响所有人种的常染色体隐性遗传性疾病，发病率约1/30000，基因携带率约为1/90，种族与地区差别不大，而近亲结婚者患病率明显增高。 | [
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] |
【发病机制】1985年Frydman等将WD基因定位于13q，Farrer又将其定位于13q14.3。 | [
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] |
1993年WD基因被克隆，并显示能够编码大量阳离子转运P型ATP酶系列。 | [
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] |
铜是人体重要的微量元素之一，通过胃肠道吸收和胆汁排出得以保持平衡。 | [
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{
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"entity": "胆汁",
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铜通过胃肠道吸收，并迅速在门脉系统中出现，与白蛋白及氨基酸结合。 | [
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{
"id": 4,
"entity": "氨基酸",
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] |
放射性铜研究表明，新吸收的单剂量铜可被肝脏迅速清除，在24小时内10%的铜以铜蓝蛋白的形式出现在血浆中。 | [
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{
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{
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{
"id": 3,
"entity": "铜",
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},
{
"id": 4,
"entity": "铜蓝蛋白",
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},
{
"id": 5,
"entity": "血浆",
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}
] |
动力学研究表明，肝脏在调节铜转运至其他组织如骨骼肌和脑的过程中起关键作用，但其中的机制尚未明确。 | [
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] |
尽管已明确铜的沉积是由于肝细胞内的铜释放入血，而导致基底神经节特异性受损的机制至今未明。 | [
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] |
肝脏是维持铜在体内平衡的核心器官，有强大的储存和分泌铜的能力。 | [
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肝细胞是肝脏中吸收和蓄积铜的部位，并监测血浆中的铜，根据细胞内铜的浓度来调节铜分泌入胆汁。 | [
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这种调节是通过铜转运P型ATP酶来完成的，ATP酶在肝细胞中大量合成，并局限于滑面内质网。 | [
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当肝细胞内的铜含量增加，ATP酶便从滑面内质网移入小管膜附近的囊状腔隙。 | [
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随着铜在囊状腔隙的蓄积，胞浆中铜的下降导致ATP酶的重新分布，重又进入滑面内质网，并将铜分泌入胆汁。 | [
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{
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"entity": "胆汁",
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"label": "bod"
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] |
这个独特的翻译后调控机制，为维持细胞内铜的自身稳定及保证多余的铜能够迅速排出提供了一个快速反应系统。 | [
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"entity": "铜",
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血浆铜蓝蛋白是一种单链糖蛋白，在体内含量较多，结合了血浆中95%以上的铜。 | [
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"id": 3,
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] |
它由肝细胞合成并分泌，是全蛋白，可与6个原子的铜结合，并将铜转运，最终排入胆汁。 | [
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] |
在WD患者中，由于铜进入腔隙的转运过程受损导致血浆铜蓝蛋白的下降。 | [
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{
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"entity": "血浆铜蓝蛋白",
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] |
WD的发病及原发缺陷尚未阐明，曾有多种假说：①胃肠道铜吸收增多铜蓝蛋白合成障碍细胞内异常蛋白存在胆道排铜障碍溶酶体缺陷控制基因异常WD基因突变导致铜蓝蛋白的缺失或功肝细胞内铜自身稳定的破坏，大量铜蓄积于肝脏内当达到一定程度后肝细胞受损铜进入血中造成溶血及组织中铜的蓄积导致各组织器官的中毒功能受损，出现各种临床症状。 | [
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{
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{
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{
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"entity": "溶酶体缺陷",
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{
"id": 14,
"entity": "控制基因",
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{
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{
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{
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"label": "bod"
},
{
"id": 18,
"entity": "铜蓝蛋白的缺失或功",
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},
{
"id": 19,
"entity": "肝细胞",
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{
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},
{
"id": 21,
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},
{
"id": 22,
"entity": "肝脏",
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},
{
"id": 23,
"entity": "大量铜蓄积于肝脏内",
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"label": "sym"
},
{
"id": 24,
"entity": "肝细胞",
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},
{
"id": 25,
"entity": "当达到一定程度后肝细胞受损",
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"label": "sym"
},
{
"id": 26,
"entity": "铜",
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"end_offset": 118,
"label": "bod"
},
{
"id": 27,
"entity": "血",
"start_offset": 120,
"end_offset": 121,
"label": "bod"
},
{
"id": 28,
"entity": "铜进入血中",
"start_offset": 117,
"end_offset": 122,
"label": "sym"
},
{
"id": 29,
"entity": "溶血",
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},
{
"id": 30,
"entity": "铜",
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"label": "bod"
},
{
"id": 31,
"entity": "造成溶血及组织中铜的蓄积",
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"label": "sym"
},
{
"id": 32,
"entity": "组织器官",
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"label": "bod"
},
{
"id": 33,
"entity": "导致各组织器官的中毒",
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"label": "sym"
},
{
"id": 34,
"entity": "功能受损",
"start_offset": 144,
"end_offset": 148,
"label": "sym"
}
] |
但尚有不能解释的地方：遗传性低铜蓝蛋白血症及部分WD患者的亲属长期血清铜蓝蛋白处于低水平WD临床症状。 | [
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{
"id": 4,
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] |
国内学者的研究认为溶酶体在本病的发生、发展中占重要位置，并提示铜在细胞内分布形式与细胞病变密切相关。 | [
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] |
溶酶体无法容纳的过剩的铜经血液循环沉积在脑基底节、大脑、小脑、小脑齿状核、角膜后弹力层、近端肾小管及皮肤。 | [
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"entity": "溶酶体",
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{
"id": 1,
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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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},
{
"id": 9,
"entity": "皮肤",
"start_offset": 50,
"end_offset": 52,
"label": "bod"
}
] |
【病理】神经病理检查显示铜在基底节区（尤其是尾状核及豆状核）广泛沉着神经元丧失，基底神经节和皮质脱髓鞘变伴有广泛的神经胶质细胞增生肝损伤的所有阶段都可发生，伴有脂肪变性铜颗粒轻微炎症、Kupffer细胞增大结缔组织增生淋巴细胞浸润电镜下可见线粒体形状、大小不一，基质密度增加，内、外层膜分离和嵴间距增宽改变。 | [
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{
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},
{
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{
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{
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"entity": "皮质脱髓",
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},
{
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"entity": "基底神经节和皮质脱髓鞘变",
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{
"id": 10,
"entity": "神经胶质细胞",
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{
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"entity": "伴有广泛的神经胶质细胞增生",
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"label": "sym"
},
{
"id": 12,
"entity": "肝损伤",
"start_offset": 65,
"end_offset": 68,
"label": "dis"
},
{
"id": 13,
"entity": "脂肪",
"start_offset": 80,
"end_offset": 82,
"label": "bod"
},
{
"id": 14,
"entity": "脂肪变性",
"start_offset": 80,
"end_offset": 84,
"label": "sym"
},
{
"id": 15,
"entity": "铜",
"start_offset": 84,
"end_offset": 85,
"label": "bod"
},
{
"id": 16,
"entity": "铜颗粒",
"start_offset": 84,
"end_offset": 87,
"label": "sym"
},
{
"id": 17,
"entity": "轻微炎症",
"start_offset": 87,
"end_offset": 91,
"label": "sym"
},
{
"id": 18,
"entity": "Kupffer细胞",
"start_offset": 92,
"end_offset": 101,
"label": "bod"
},
{
"id": 19,
"entity": "Kupffer细胞增大",
"start_offset": 92,
"end_offset": 103,
"label": "sym"
},
{
"id": 20,
"entity": "结缔组织",
"start_offset": 103,
"end_offset": 107,
"label": "bod"
},
{
"id": 21,
"entity": "结缔组织增生",
"start_offset": 103,
"end_offset": 109,
"label": "sym"
},
{
"id": 22,
"entity": "淋巴细胞",
"start_offset": 109,
"end_offset": 113,
"label": "bod"
},
{
"id": 23,
"entity": "淋巴细胞浸润",
"start_offset": 109,
"end_offset": 115,
"label": "sym"
},
{
"id": 24,
"entity": "电镜下可见线粒体形状、大小不一",
"start_offset": 115,
"end_offset": 130,
"label": "sym"
},
{
"id": 25,
"entity": "基质密度增加",
"start_offset": 131,
"end_offset": 137,
"label": "sym"
},
{
"id": 26,
"entity": "内、外层膜分离和嵴间距增宽改变",
"start_offset": 138,
"end_offset": 153,
"label": "sym"
}
] |
在肝细胞中多囊泡状的圆形颗粒被认为是WD的特征性的改变，通过X线吸收分析，显示铜含量的增加。 | [
{
"id": 0,
"entity": "肝细胞",
"start_offset": 1,
"end_offset": 4,
"label": "bod"
},
{
"id": 1,
"entity": "多囊泡状的圆形颗粒",
"start_offset": 5,
"end_offset": 14,
"label": "bod"
},
{
"id": 2,
"entity": "WD",
"start_offset": 18,
"end_offset": 20,
"label": "dis"
},
{
"id": 3,
"entity": "X线",
"start_offset": 30,
"end_offset": 32,
"label": "pro"
},
{
"id": 4,
"entity": "铜含量的增加",
"start_offset": 39,
"end_offset": 45,
"label": "sym"
}
] |
【临床表现】WD的临床表现各异，大多数WD患者在疾病早期有神经精神症状肝病的表现。 | [
{
"id": 0,
"entity": "WD",
"start_offset": 6,
"end_offset": 8,
"label": "dis"
},
{
"id": 1,
"entity": "WD",
"start_offset": 19,
"end_offset": 21,
"label": "dis"
},
{
"id": 2,
"entity": "神经",
"start_offset": 29,
"end_offset": 31,
"label": "bod"
},
{
"id": 3,
"entity": "神经精神症状",
"start_offset": 29,
"end_offset": 35,
"label": "sym"
},
{
"id": 4,
"entity": "肝病",
"start_offset": 35,
"end_offset": 37,
"label": "dis"
}
] |
在儿童，患者一旦出现不明原因的肝功能异常WD的可能。 | [
{
"id": 0,
"entity": "肝",
"start_offset": 15,
"end_offset": 16,
"label": "bod"
},
{
"id": 1,
"entity": "肝功能异常",
"start_offset": 15,
"end_offset": 20,
"label": "sym"
},
{
"id": 2,
"entity": "WD",
"start_offset": 20,
"end_offset": 22,
"label": "dis"
}
] |
（一）肝脏损害肝功能异常是儿童期WD最常见的表现，平均发病年龄在10～13岁。 | [
{
"id": 0,
"entity": "肝脏损害",
"start_offset": 3,
"end_offset": 7,
"label": "dis"
},
{
"id": 1,
"entity": "肝功能异常",
"start_offset": 7,
"end_offset": 12,
"label": "sym"
},
{
"id": 2,
"entity": "儿童期WD",
"start_offset": 13,
"end_offset": 18,
"label": "dis"
}
] |
肝损伤可发生在神经系统症状肝脏症状可表现为无症状仅血清转氨酶轻度增高急性肝炎、慢性肝炎以及肝硬化等。 | [
{
"id": 0,
"entity": "肝损伤",
"start_offset": 0,
"end_offset": 3,
"label": "dis"
},
{
"id": 1,
"entity": "神经",
"start_offset": 7,
"end_offset": 9,
"label": "bod"
},
{
"id": 2,
"entity": "神经系统症状",
"start_offset": 7,
"end_offset": 13,
"label": "sym"
},
{
"id": 3,
"entity": "肝脏",
"start_offset": 13,
"end_offset": 15,
"label": "bod"
},
{
"id": 4,
"entity": "血清转氨酶",
"start_offset": 25,
"end_offset": 30,
"label": "bod"
},
{
"id": 5,
"entity": "血清转氨酶轻度增高",
"start_offset": 25,
"end_offset": 34,
"label": "sym"
},
{
"id": 6,
"entity": "急性肝炎",
"start_offset": 34,
"end_offset": 38,
"label": "dis"
},
{
"id": 7,
"entity": "慢性肝炎",
"start_offset": 39,
"end_offset": 43,
"label": "dis"
},
{
"id": 8,
"entity": "肝硬化",
"start_offset": 45,
"end_offset": 48,
"label": "dis"
}
] |
在特殊情况下，首发症状可为急性肝功能衰竭伴大量铜突然释放入血引起溶血性贫血。 | [
{
"id": 0,
"entity": "肝",
"start_offset": 15,
"end_offset": 16,
"label": "bod"
},
{
"id": 1,
"entity": "急性肝功能衰竭",
"start_offset": 13,
"end_offset": 20,
"label": "sym"
},
{
"id": 2,
"entity": "铜",
"start_offset": 23,
"end_offset": 24,
"label": "bod"
},
{
"id": 3,
"entity": "血",
"start_offset": 29,
"end_offset": 30,
"label": "bod"
},
{
"id": 4,
"entity": "伴大量铜突然释放入血",
"start_offset": 20,
"end_offset": 30,
"label": "sym"
},
{
"id": 5,
"entity": "引起溶血性贫血",
"start_offset": 30,
"end_offset": 37,
"label": "sym"
}
] |
突发这种急性肝脏变性的患者常提示存在病毒性疾病或有外界因素促使铜负荷过重使肝脏受损加剧。 | [
{
"id": 0,
"entity": "急性肝脏变性",
"start_offset": 4,
"end_offset": 10,
"label": "dis"
},
{
"id": 1,
"entity": "病毒性疾病",
"start_offset": 18,
"end_offset": 23,
"label": "dis"
},
{
"id": 2,
"entity": "铜",
"start_offset": 31,
"end_offset": 32,
"label": "bod"
},
{
"id": 3,
"entity": "肝脏",
"start_offset": 37,
"end_offset": 39,
"label": "bod"
}
] |
无论首发症状如何，几乎所有患者都有不同程度的肝硬化，这反映了机体对临床症状出现前的肝铜蓄积的一个应答。 | [
{
"id": 0,
"entity": "肝硬化",
"start_offset": 22,
"end_offset": 25,
"label": "dis"
},
{
"id": 1,
"entity": "肝铜",
"start_offset": 41,
"end_offset": 43,
"label": "dis"
}
] |
（二）神经系统损害中枢神经系统损害仅次于肝脏，以基底神经节受损为主。 | [
{
"id": 0,
"entity": "神经系统损害",
"start_offset": 3,
"end_offset": 9,
"label": "dis"
},
{
"id": 1,
"entity": "中枢神经系统损害",
"start_offset": 9,
"end_offset": 17,
"label": "dis"
},
{
"id": 2,
"entity": "肝脏",
"start_offset": 20,
"end_offset": 22,
"label": "bod"
},
{
"id": 3,
"entity": "基底神经节",
"start_offset": 24,
"end_offset": 29,
"label": "bod"
}
] |
大年龄儿童肝损不明显，主要以精神神经症状为主，但比例较成人少。 | [
{
"id": 0,
"entity": "肝损",
"start_offset": 5,
"end_offset": 7,
"label": "dis"
},
{
"id": 1,
"entity": "精神神经症状",
"start_offset": 14,
"end_offset": 20,
"label": "sym"
}
] |
早期症状主要为面部表情减少震颤、肌张力障碍吞咽困难、构音障碍、流涎以及舞蹈样动作。 | [
{
"id": 0,
"entity": "面部",
"start_offset": 7,
"end_offset": 9,
"label": "bod"
},
{
"id": 1,
"entity": "面部表情减少",
"start_offset": 7,
"end_offset": 13,
"label": "sym"
},
{
"id": 2,
"entity": "震颤",
"start_offset": 13,
"end_offset": 15,
"label": "sym"
},
{
"id": 3,
"entity": "肌",
"start_offset": 16,
"end_offset": 17,
"label": "bod"
},
{
"id": 4,
"entity": "肌张力障碍",
"start_offset": 16,
"end_offset": 21,
"label": "sym"
},
{
"id": 5,
"entity": "吞咽困难",
"start_offset": 21,
"end_offset": 25,
"label": "sym"
},
{
"id": 6,
"entity": "构音障碍",
"start_offset": 26,
"end_offset": 30,
"label": "sym"
},
{
"id": 7,
"entity": "流涎",
"start_offset": 31,
"end_offset": 33,
"label": "sym"
},
{
"id": 8,
"entity": "舞蹈样动作",
"start_offset": 35,
"end_offset": 40,
"label": "sym"
}
] |
早期出现症状的患者中可通过MRI检测到脑结构的改变铜的沉积螯合剂的治疗可发生可逆性改变。 | [
{
"id": 0,
"entity": "MRI检测",
"start_offset": 13,
"end_offset": 18,
"label": "pro"
},
{
"id": 1,
"entity": "脑",
"start_offset": 19,
"end_offset": 20,
"label": "bod"
},
{
"id": 2,
"entity": "脑结构的改变",
"start_offset": 19,
"end_offset": 25,
"label": "sym"
},
{
"id": 3,
"entity": "铜",
"start_offset": 25,
"end_offset": 26,
"label": "bod"
},
{
"id": 4,
"entity": "铜的沉积",
"start_offset": 25,
"end_offset": 29,
"label": "sym"
},
{
"id": 5,
"entity": "螯合剂",
"start_offset": 29,
"end_offset": 32,
"label": "dru"
}
] |
精神症状可单独发生或者与其他症状伴随出现。 | [
{
"id": 0,
"entity": "精神症状",
"start_offset": 0,
"end_offset": 4,
"label": "sym"
}
] |
随病情进展出现皮层下型特征的痴呆精神迟钝和惰性，记忆力损害，注意力不集中均很显著。 | [
{
"id": 0,
"entity": "皮层",
"start_offset": 7,
"end_offset": 9,
"label": "bod"
},
{
"id": 1,
"entity": "皮层下型特征的痴呆",
"start_offset": 7,
"end_offset": 16,
"label": "sym"
},
{
"id": 2,
"entity": "精神迟钝和惰性",
"start_offset": 16,
"end_offset": 23,
"label": "sym"
},
{
"id": 3,
"entity": "记忆力损害",
"start_offset": 24,
"end_offset": 29,
"label": "sym"
},
{
"id": 4,
"entity": "注意力不集中均很显著",
"start_offset": 30,
"end_offset": 40,
"label": "sym"
}
] |
（三）其他除了常见的肝脏和神经系统表现外，任何器官铜的过量沉积，均可导致该脏器功能障碍。 | [
{
"id": 0,
"entity": "肝脏",
"start_offset": 10,
"end_offset": 12,
"label": "bod"
},
{
"id": 1,
"entity": "神经系统",
"start_offset": 13,
"end_offset": 17,
"label": "bod"
},
{
"id": 2,
"entity": "铜",
"start_offset": 25,
"end_offset": 26,
"label": "bod"
},
{
"id": 3,
"entity": "脏器",
"start_offset": 37,
"end_offset": 39,
"label": "bod"
}
] |
临床表现包括范可尼综合征伴氨基酸尿、肾结石糖尿、蛋白尿、继发性骨质密度减低、角膜色素环K-F环）、心律失常、关节炎、横纹肌溶解溶血性贫血、血小板减少、皮肤变黑甲状腺功能减低甲状旁腺功能减退继发性闭经。 | [
{
"id": 0,
"entity": "范可尼综合征伴氨基酸尿",
"start_offset": 6,
"end_offset": 17,
"label": "sym"
},
{
"id": 1,
"entity": "肾",
"start_offset": 18,
"end_offset": 19,
"label": "bod"
},
{
"id": 2,
"entity": "肾结石",
"start_offset": 18,
"end_offset": 21,
"label": "sym"
},
{
"id": 3,
"entity": "糖尿",
"start_offset": 21,
"end_offset": 23,
"label": "sym"
},
{
"id": 4,
"entity": "蛋白尿",
"start_offset": 24,
"end_offset": 27,
"label": "sym"
},
{
"id": 5,
"entity": "继发性骨质密度减低",
"start_offset": 28,
"end_offset": 37,
"label": "sym"
},
{
"id": 6,
"entity": "角膜",
"start_offset": 38,
"end_offset": 40,
"label": "bod"
},
{
"id": 7,
"entity": "角膜色素环",
"start_offset": 38,
"end_offset": 43,
"label": "sym"
},
{
"id": 8,
"entity": "K-F环",
"start_offset": 43,
"end_offset": 47,
"label": "sym"
},
{
"id": 9,
"entity": "心律失常",
"start_offset": 49,
"end_offset": 53,
"label": "sym"
},
{
"id": 10,
"entity": "关节炎",
"start_offset": 54,
"end_offset": 57,
"label": "sym"
},
{
"id": 11,
"entity": "横纹肌",
"start_offset": 58,
"end_offset": 61,
"label": "bod"
},
{
"id": 12,
"entity": "横纹肌溶解",
"start_offset": 58,
"end_offset": 63,
"label": "sym"
},
{
"id": 13,
"entity": "溶血性贫血",
"start_offset": 63,
"end_offset": 68,
"label": "sym"
},
{
"id": 14,
"entity": "血小板减少",
"start_offset": 69,
"end_offset": 74,
"label": "sym"
},
{
"id": 15,
"entity": "皮肤",
"start_offset": 75,
"end_offset": 77,
"label": "bod"
},
{
"id": 16,
"entity": "皮肤变黑",
"start_offset": 75,
"end_offset": 79,
"label": "sym"
},
{
"id": 17,
"entity": "甲状腺",
"start_offset": 79,
"end_offset": 82,
"label": "bod"
},
{
"id": 18,
"entity": "甲状腺功能减低",
"start_offset": 79,
"end_offset": 86,
"label": "sym"
},
{
"id": 19,
"entity": "甲状旁腺",
"start_offset": 86,
"end_offset": 90,
"label": "bod"
},
{
"id": 20,
"entity": "甲状旁腺功能减退",
"start_offset": 86,
"end_offset": 94,
"label": "sym"
},
{
"id": 21,
"entity": "继发性闭经",
"start_offset": 94,
"end_offset": 99,
"label": "sym"
}
] |
随着螯合剂的早期应用，这些症状有可逆性的可能。 | [
{
"id": 0,
"entity": "螯合剂",
"start_offset": 2,
"end_offset": 5,
"label": "dru"
}
] |
【诊断】（一）临床表现任何患者如仅出现血清转氨酶升高原因不明的慢性肝炎出现锥体外系症状Coombs试验阴性的溶血性贫血肾小管功能不全血尿或蛋白尿代谢性骨病无法解释的精神症状包括突然行为改变等都应想到WD的诊断。 | [
{
"id": 0,
"entity": "血清转氨酶",
"start_offset": 19,
"end_offset": 24,
"label": "bod"
},
{
"id": 1,
"entity": "血清转氨酶升高",
"start_offset": 19,
"end_offset": 26,
"label": "sym"
},
{
"id": 2,
"entity": "慢性肝炎",
"start_offset": 31,
"end_offset": 35,
"label": "dis"
},
{
"id": 3,
"entity": "原因不明的慢性肝炎",
"start_offset": 26,
"end_offset": 35,
"label": "sym"
},
{
"id": 4,
"entity": "锥",
"start_offset": 37,
"end_offset": 38,
"label": "bod"
},
{
"id": 5,
"entity": "出现锥体外系症状",
"start_offset": 35,
"end_offset": 43,
"label": "sym"
},
{
"id": 6,
"entity": "Coombs试验",
"start_offset": 43,
"end_offset": 51,
"label": "pro"
},
{
"id": 7,
"entity": "Coombs试验阴性的溶血性贫血",
"start_offset": 43,
"end_offset": 59,
"label": "sym"
},
{
"id": 8,
"entity": "肾小管",
"start_offset": 59,
"end_offset": 62,
"label": "bod"
},
{
"id": 9,
"entity": "肾小管功能不全",
"start_offset": 59,
"end_offset": 66,
"label": "sym"
},
{
"id": 10,
"entity": "血尿",
"start_offset": 66,
"end_offset": 68,
"label": "bod"
},
{
"id": 11,
"entity": "蛋白尿",
"start_offset": 69,
"end_offset": 72,
"label": "bod"
},
{
"id": 12,
"entity": "血尿或蛋白尿",
"start_offset": 66,
"end_offset": 72,
"label": "sym"
},
{
"id": 13,
"entity": "骨病",
"start_offset": 75,
"end_offset": 77,
"label": "dis"
},
{
"id": 14,
"entity": "代谢性骨病",
"start_offset": 72,
"end_offset": 77,
"label": "sym"
},
{
"id": 15,
"entity": "无法解释的精神症状",
"start_offset": 77,
"end_offset": 86,
"label": "sym"
},
{
"id": 16,
"entity": "行为改变",
"start_offset": 90,
"end_offset": 94,
"label": "sym"
},
{
"id": 17,
"entity": "WD",
"start_offset": 99,
"end_offset": 101,
"label": "dis"
}
] |
本病患者肝损害和神经系统均非特异性，角膜K-F环为WD特异性体征，但早期缺乏完整的环。 | [
{
"id": 0,
"entity": "肝损害",
"start_offset": 4,
"end_offset": 7,
"label": "dis"
},
{
"id": 1,
"entity": "神经系统",
"start_offset": 8,
"end_offset": 12,
"label": "bod"
},
{
"id": 2,
"entity": "角膜K-F环",
"start_offset": 18,
"end_offset": 24,
"label": "dis"
},
{
"id": 3,
"entity": "WD特异性体征",
"start_offset": 25,
"end_offset": 32,
"label": "dis"
}
] |
铜在脑内蓄积到一定程度出现症状时，在角膜上也有沉积。 | [
{
"id": 0,
"entity": "铜",
"start_offset": 0,
"end_offset": 1,
"label": "bod"
},
{
"id": 1,
"entity": "脑",
"start_offset": 2,
"end_offset": 3,
"label": "bod"
},
{
"id": 2,
"entity": "角膜",
"start_offset": 18,
"end_offset": 20,
"label": "bod"
}
] |
另外，K-F环也见于其他肝病患儿，因此没有K-F环不能排除WD，仅依靠K-F环不能确诊WD。 | [
{
"id": 0,
"entity": "K-F环",
"start_offset": 3,
"end_offset": 7,
"label": "sym"
},
{
"id": 1,
"entity": "肝病",
"start_offset": 12,
"end_offset": 14,
"label": "dis"
},
{
"id": 2,
"entity": "K-F环",
"start_offset": 21,
"end_offset": 25,
"label": "dis"
},
{
"id": 3,
"entity": "WD",
"start_offset": 29,
"end_offset": 31,
"label": "dis"
},
{
"id": 4,
"entity": "K-F环",
"start_offset": 35,
"end_offset": 39,
"label": "sym"
},
{
"id": 5,
"entity": "WD",
"start_offset": 43,
"end_offset": 45,
"label": "dis"
}
] |
（二）实验室检查以下实验室检查可明确WD的诊断。 | [
{
"id": 0,
"entity": "实验室检查",
"start_offset": 3,
"end_offset": 8,
"label": "pro"
},
{
"id": 1,
"entity": "实验室检查",
"start_offset": 10,
"end_offset": 15,
"label": "pro"
},
{
"id": 2,
"entity": "WD",
"start_offset": 18,
"end_offset": 20,
"label": "dis"
}
] |
1.血清铜蓝蛋白及铜氧化酶患者血清铜蓝蛋白降低铜氧化酶活力下降血清铜蓝蛋白均低于200mg/L（免疫扩散法）。 | [
{
"id": 0,
"entity": "血清铜蓝蛋白",
"start_offset": 2,
"end_offset": 8,
"label": "bod"
},
{
"id": 1,
"entity": "铜氧化酶",
"start_offset": 9,
"end_offset": 13,
"label": "bod"
},
{
"id": 2,
"entity": "血清铜蓝蛋白",
"start_offset": 15,
"end_offset": 21,
"label": "bod"
},
{
"id": 3,
"entity": "血清铜蓝蛋白降低",
"start_offset": 15,
"end_offset": 23,
"label": "sym"
},
{
"id": 4,
"entity": "铜氧化酶",
"start_offset": 23,
"end_offset": 27,
"label": "bod"
},
{
"id": 5,
"entity": "铜氧化酶活力下降",
"start_offset": 23,
"end_offset": 31,
"label": "sym"
},
{
"id": 6,
"entity": "血清铜蓝蛋白",
"start_offset": 31,
"end_offset": 37,
"label": "bod"
},
{
"id": 7,
"entity": "免疫扩散法",
"start_offset": 48,
"end_offset": 53,
"label": "pro"
}
] |
血清铜蓝蛋白为一急性期蛋白的反应，因此5%的患者由于感染或炎症时，血清铜蓝蛋白可在正常范围内。 | [
{
"id": 0,
"entity": "血清铜蓝蛋白",
"start_offset": 0,
"end_offset": 6,
"label": "pro"
},
{
"id": 1,
"entity": "感染",
"start_offset": 26,
"end_offset": 28,
"label": "dis"
},
{
"id": 2,
"entity": "炎症",
"start_offset": 29,
"end_offset": 31,
"label": "dis"
},
{
"id": 3,
"entity": "血清铜蓝蛋白",
"start_offset": 33,
"end_offset": 39,
"label": "pro"
}
] |
另外在严重肝病、营养不良、肾病及6个月以内婴儿，其值可降低。 | [
{
"id": 0,
"entity": "严重肝病",
"start_offset": 3,
"end_offset": 7,
"label": "dis"
},
{
"id": 1,
"entity": "营养不良",
"start_offset": 8,
"end_offset": 12,
"label": "dis"
},
{
"id": 2,
"entity": "肾病",
"start_offset": 13,
"end_offset": 15,
"label": "dis"
}
] |
患者血清铜氧化酶低于0.2光密度。 | [
{
"id": 0,
"entity": "血清铜氧化酶",
"start_offset": 2,
"end_offset": 8,
"label": "bod"
}
] |
2.血清铜和24小时尿铜患者血清总铜量降低24小时尿铜排泄量增多血清总铜量低于正常人的1/2，24h尿铜＞1.6μmol/24h。 | [
{
"id": 0,
"entity": "血清铜",
"start_offset": 2,
"end_offset": 5,
"label": "ite"
},
{
"id": 1,
"entity": "24小时尿铜",
"start_offset": 6,
"end_offset": 12,
"label": "ite"
},
{
"id": 2,
"entity": "血清总铜量",
"start_offset": 14,
"end_offset": 19,
"label": "ite"
},
{
"id": 3,
"entity": "血清总铜量降低",
"start_offset": 14,
"end_offset": 21,
"label": "sym"
},
{
"id": 4,
"entity": "24小时尿铜排泄量",
"start_offset": 21,
"end_offset": 30,
"label": "ite"
},
{
"id": 5,
"entity": "24小时尿铜排泄量增多",
"start_offset": 21,
"end_offset": 32,
"label": "sym"
},
{
"id": 6,
"entity": "血清总铜量",
"start_offset": 32,
"end_offset": 37,
"label": "ite"
},
{
"id": 7,
"entity": "24h尿铜",
"start_offset": 47,
"end_offset": 52,
"label": "ite"
}
] |
但需排除肝脏阻塞性疾病。 | [
{
"id": 0,
"entity": "肝脏阻塞性疾病",
"start_offset": 4,
"end_offset": 11,
"label": "dis"
}
] |
对可疑病例可用青霉胺，在治疗前后测24h尿铜作诊断性治疗，如口服青霉胺后24h尿铜增加至1000μg即可诊断。 | [
{
"id": 0,
"entity": "青霉胺",
"start_offset": 7,
"end_offset": 10,
"label": "dru"
},
{
"id": 1,
"entity": "24h尿铜",
"start_offset": 17,
"end_offset": 22,
"label": "ite"
},
{
"id": 2,
"entity": "口服青霉胺",
"start_offset": 30,
"end_offset": 35,
"label": "pro"
},
{
"id": 3,
"entity": "24h尿铜",
"start_offset": 36,
"end_offset": 41,
"label": "ite"
}
] |
3.肝铜测定测定肝铜需行肝活体组织检查，如肝铜含量＞250μg/g干重，具有诊断意义。 | [
{
"id": 0,
"entity": "肝铜测定",
"start_offset": 2,
"end_offset": 6,
"label": "pro"
},
{
"id": 1,
"entity": "肝铜",
"start_offset": 8,
"end_offset": 10,
"label": "bod"
},
{
"id": 2,
"entity": "肝活体组织检查",
"start_offset": 12,
"end_offset": 19,
"label": "pro"
},
{
"id": 3,
"entity": "肝铜含量",
"start_offset": 21,
"end_offset": 25,
"label": "ite"
}
] |
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