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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

引用本文:
Citation:

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
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); 

详细信息
  • 中图分类号: R742.4

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

Research funding: 

 

  • 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、

     

  • [1]ALA A, WALKER AP, ASHKAN K, et al.Wilson's disease[J].Lancet, 2007, 369 (9559) :397-408.
    [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.
    [3]HU JY, LYU DP, WANG GQ, et al.Study on the clinical misdiagnosis of hepatolenticular degeneration[J].Natl Med J China, 2001, 81 (11) :644. (in Chinese) 胡纪源, 吕达平, 王共强, 等.肝豆状核变性的临床误诊研究[J].中华医学杂志, 2001, 81 (11) :644.
    [4]LANGNER C, DENK H.Wilson disease[J].Virchows Arch, 2004, 445 (2) :111-118.
    [5]National Workshop on Fatty Liver and Alcoholic Liver Disease, Chinese Society of Hepatology, Chinese Medical Association;Fatty Liver Expert Committee, Chinese Medical Doctor Association.Guidelines of prevention and treatment for alcoholic liver disease:A 2018 update[J].J Clin Hepatol, 2018, 34 (5) :939-946. (in Chinese) 中华医学会肝病学分会脂肪肝和酒精性肝病学组, 中国医师协会脂肪性肝病专家委员会.酒精性肝病防治指南 (2018年更新版) [J].临床肝胆病杂志, 2018, 34 (5) :939-946.
    [6]Special Committee of Brain and Spinal Cord Injuries, China Neurologist Association, Chinese Medical Doctor Association.Diagnoses and treatments of chronic alcoholic toxic cerebral encephalopathy:An expert consensus[J].Chin J Neuromed, 2018, 17 (1) :2-9. (in Chinese) 中国医师协会神经内科分会脑与脊髓损害专业委员会.慢性酒精中毒性脑病诊治中国专家共识[J].中华神经医学杂志, 2018, 17 (1) :2-9.
    [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.
    [8]ZHANG DF, WANG YS, TENG JF.Clinical research about liver function of hepatolenticular degeneration combined liver fibrosis by transplantation of bone marrow stem cells[J].Chin J Immunol, 2016, 32 (2) :193-196, 200. (in Chinese) 张东锋, 王煜姝, 滕军放.骨髓间充质干细胞对肝豆状核变性合并肝纤维化肝功能的临床研究[J].中国免疫学杂志, 2016, 32 (2) :193-196, 200.
    [9]LIANG XL.The interpretation of"Guidelines for diagnosis and treatment of hepatolenticular degeneration"[J].Chin J Contemp Neurol Neurosurg, 2009, 9 (3) :212-215. (in Chinese) 梁秀龄.解读《肝豆状核变性的诊断与治疗指南》[J].中国现代神经疾病杂志, 2009, 9 (3) :212-215.
    [10] ZHANG JW.Neurotoxic mechanism of decoppering in treatment of Wilson’s disease[C]//Chinese Medical Association, Chinese Society of Neurology.Collected Papers from The 18th National Conference of Neurology by Chinese Medical Association (Volume I) , 2015:2. (in Chiense) 张基伟.肝豆状核变性驱铜诱导的神经毒性机制研究[C]//中华医学会神经病学分会.中华医学会第十八次全国神经病学学术会议论文汇编 (上) , 2015:2.
    [11]MAO JX, ZOU Y, GUO WY.Clinical effect of liver transplantation in the treatment of hepatolenticular degeneration[J].JClin Hepatol, 2017, 33 (10) :1977-1980. (in Chinese) 毛家玺, 邹游, 郭闻渊.肝移植治疗肝豆状核变性的效果观察[J].临床肝胆病杂志, 2017, 33 (10) :1977-1980.
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  • 出版日期:  2019-07-20
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