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以肝病为首发症状的成人肝豆状核变性5例分析

范振平 张海燕 蔡少平 吉英杰 史雪敏 张文瑾

引用本文:
Citation:

以肝病为首发症状的成人肝豆状核变性5例分析

DOI: 10.3969/j.issn.1001-5256.2013.12.017
基金项目: 

军队十二·五课题(424130307); 

详细信息
  • 中图分类号: R742.4

Diagnosis and treatment of hepatolenticular degeneration in adult patients with primary liver diseases

Research funding: 

 

  • 摘要: <正>肝豆状核变性(hepatolenticular degeneration,HLD),又称Wilson病(Wilson’disease,WD),系铜代谢障碍引起的以肝硬化、脑部基底节损害为主的一组临床综合征[1]。该病多见于儿童和青少年,临床表现多样,缺乏特异性,成人患者漏诊和误

     

  • [1]ROBERTS EA, SCHILSKY ML.Diagnosis and treatment of Wilson disease:an update[J].Hepatology, 2008, 47 (6) :2089-2111.
    [2]YANG JD, DOU KF.Advances in diagnosis and treatment of hepatolenticular degeneration[J].J Fourth Milit Med Univ, 2009, 30 (20) :2252-2254. (in Chinese) 杨建栋, 窦科峰.肝豆状核变性诊疗进展[J].第四军医大学学报, 2009, 30 (20) :2252-2254.
    [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) :642-644. (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) :642-644.
    [4]Parkinson’s Disease and Movement Disorders Study Group, Chinese Society of Neurology, Chinese Medical Association.Neurogenetics Study Group, Chinese Society of Neurology, Chinese Medical Association.Guidelines for diagnosis and treatment of hepatolenticular degeneration[J].Chin J Neurol, 2008, 41 (8) :566-569. (in Chinese) 中华医学会神经病学分会帕金森病及运动障碍学组, 中华医学会神经病学分会神经遗传病学组.肝豆状核变性的诊断与治疗指南[J].中华神经科杂志, 2008, 41 (8) :566-569.
    [5]LU Y, WANG JS.Diagnosis of Wilson's disease in children[J].J Clin Hepatol, 2012, 28 (12) :907-910. (in Chinese) 陆怡, 王建设.儿童肝豆状核变性的诊断[J].临床肝胆病杂志, 2012, 28 (12) :907-910.
    [6]CHEN J, CHEN HY.Reasons for misdiagnosis of hepatolenticular degeneration:an analysis of 149 cases[J].New Chin Med, 2003, 34 (z1) :38-39. (in Chinese) 陈健, 陈红英.肝豆状核变性149例误诊原因分析[J].新医学, 2003, 34 (z1) :38-39.
    [7]LIU L, HU XX.One case of severe hepatitis due to hepatolenticular degeneration associated with hepatitis B[J].J Clin Hepatol, 2010, 26 (6) :657-662. (in Chinese) 刘莉, 胡小宣.肝豆状核变性合并乙型肝炎致重型肝炎1例[J].临床肝胆病杂志, 2010, 26 (6) :657-662.
    [8]LIANG XL, LI XH, SHI Z.Clinical problems of hepatolenticular degeneration[J].Chin J Neurol, 2005, 38 (1) :60-62. (in Chinese) 梁秀龄, 李洵桦, 石铸.肝豆状核变性临床若干问题[J].中华神经科杂志, 2005, 38 (1) :60-62.
    [9]LIU W.Mutations in exons 12, 16, and 18 in hepatolenticular degeneration:an analysis of one case[J].Chin J Misdiagn, 2011, 11 (7) :1748-1749. (in Chinese) 刘蔚.肝豆状核变性12, 16, 18号外显子基因突变1例分析[J].中国误诊学杂志, 2011, 11 (7) :1748-1749.
    [10]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.
    [11]ZHANG Y, SUN WL.EASL Clinical Practice Guidelines:Wilson's disease (2012) [J/CD].Chin J CIinicians:EIectronic Edition, 2012, 6 (19) :6011-6012. (in Chinese) 张影, 孙万里.2012欧洲肝脏研究会肝豆状核变性 (Wilson病) 的诊治指南[J/CD].中华临床医师杂志:电子版, 2012, 6 (19) :6011-6012.
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