以神经障碍为突出症状的肝豆状核变性1例报告

吕佳; 赵钢; 孙学华; 高月求

doi:10.3969/j.issn.1001-5256.2019.07.034

以神经障碍为突出症状的肝豆状核变性1例报告

DOI: 10.3969/j.issn.1001-5256.2019.07.034

上海中医药大学附属曙光医院肝病科

基金项目:

国家自然科学基金资助项目(81673938,81874436)；国家“艾滋病和病毒性肝炎等重大传染病防治”科技重大专项资助项目(2018ZX10725504)；上海市中医药事业发展三年行动计划资助项目[ZY(2018-2020)-CCCX-2003-01]；重大疑难疾病中西医临床协作试点项目资助项目[ZY(2018-2020)-FXTW-2004]；上海中医药大学附属曙光医院四明基金资助项目(SGKJ-201705)；

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出版历程
- 出版日期: 2019-07-20

A case of hepatolenticular degeneration with neurological disorders as the prominent symptom

Department of Hepatology, Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese Medicine

Research funding:

摘要

摘要: <正>肝豆状核变性由Wilson在1912年首先描述,故又称为Wilson病,2018年被列入国家卫生健康委员会制订的《第一批罕见病目录》。Wilson病是迄今少数几种可控制的神经遗传病之一,发病率低,世界范围发病率为1/30 000～1/100 000[1],致病基因携带者大约为1/90[2]。Wilson病起病隐匿,临床症状多样,很容易漏诊、误诊,既往统计显示仅有29. 87%（302/1011）的患者能在首发症状出现3个月内获得正确诊断[3]。早发现、
- 肝豆状核变性 /
- 神经障碍
- hepatolenticular degeneration /
- neurological disorders

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参考文献(11)

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[2] FIGUS A, ANGIUS A, LOUDIANOE G, et al.Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations[J].Am I Hum Gene, 1995, 57 (6) :1318-1324.

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[7] LIANG XL.Guidelines for the diagnosis and treatment of Wilson’s disease[C]∥Neurology Branch of Chinese Medical Association.Collected Papers from The 11th National Conference of Neurology, 2008:5. (in Chinese) 梁秀龄.肝豆状核变性诊断与治疗指南[C]//中华医学会神经病学分会.第十一届全国神经病学学术会议论文汇编, 2008:5.

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