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更新观念,提高我国肝豆状核变性诊治的临床水平

杨旭

引用本文:
Citation:

更新观念,提高我国肝豆状核变性诊治的临床水平

DOI: 10.3969/j.issn.1001-5256.2013.12.008
详细信息
  • 中图分类号: R742.4

Update on diagnosis and treatment of Wilson disease in China

  • 摘要: 肝豆状核变性是一少见而可治疗的遗传性疾病,介绍本病最新进展和作者多年的经验,讨论当前我国这一疾病临床中值得注意的问题。大量研究表明,近年本病病例增多,年龄范围更广,肝型及不典型病例更多,诊断难度大,误诊误治常见,值得重视。高度警惕是防止误诊的关键,实验检查是诊断本病不可缺少的依据。K-F环、铜蓝蛋白、尿铜、肝铜、基因检查等对本病的诊断均有重要意义。其中肝铜的特异性和敏感性最高,达95%;基因检查特异性100%,敏感性60%85%。怀疑本病的患者应进行系统铜代谢检查。严格掌握诊断标准,积分≥4可诊断本病,切勿凭某项指标诊断本病。不论病情轻重,确诊后即开始治疗。危重患者不要因为药物副作用放弃治疗,暴发型应尽快进行快速驱铜治疗,治疗无效的急慢性肝衰竭患者可行肝移植。本病长期预后良好。要认识本病新的特点,更新观念,提高我国肝豆状核变性诊治的临床水平。

     

  • [1]THOMAS GR, FORBES JR, ROBERTS EA, et al.The Wilson disease gene:spectrum of mutations and their consequences[J].Nat Genet, 1995, 9 (2) :210-217.
    [2]European Association for the Study of the Liver.EASL clinical practice guidelines:Wilson’s disease[J].J Hepatol, 2012, 56 (3) :671-685.
    [3]ROBERTS EA, SCHILSKY MI.Diagnosis and treatment of Wilson disease:an update[J].Hepatology, 2008, 47 (6) :2089-2111.
    [4]ROBERTS EA.“Not so rare”Wilson disease[J].Clin Res Hepatol Gastroenterol, 2013, 37 (3) :219-221.
    [5]PRASHANTH LK, TALY AB, SINHA S, et al.Wilson’s disease:diagnostic errors and clinical implications[J].J Neurol Neurosurg Psychiatry, 2004, 75 (6) :907-909.
    [6]WALSHE JM, YEALLAND M.Not Wilson’s disease:a review of misdiagnosed cases[J].QJM, 1995, 88 (1) :55-59.
    [7]ALA A, BORJIGIN J, ROCHWARGER A, et al.Wilson disease in septuagenarian siblings:raising the bar for diagnosis[J].Hepatology, 2005, 41 (3) :668-670.
    [8]FERENCI P, CZTONKOWSKA A, MERLE U, et al.Late-onset Wilson’s disease[J].Gastroenterology, 2007, 132 (4) :1294-1298.
    [9]STEINDL P, FERENCI P, DIENES HP, et al.Wilson’s disease in patients presenting with liver disease:a diagnostic challenge[J].Gastroenterology, 1997, 113 (1) :212-218.
    [10]YANG X, TONG DJ, LIANG J, et al.Ceruloplasmin level of patients with liver disease in China[J].Chin J Intern Med, 2005, 44 (1) :13-15. (in Chinese) 杨旭, 童德军, 梁骏, 等.中国肝病患者血清铜蓝蛋白水平的研究[J].中华内科杂志, 2005, 44 (1) :13-15.
    [11]FERENCI P, STEINDL P, GOGEL W, et al.Diagnostic value of quantitative hepatic copper determination in patients with Wilson’s disease[J].Clin Gastroenterol Hepatol, 2005, 3 (8) :811-816.
    [12]SCHILSKY ML.Wilson disease:current status and the future[J].Biochimie, 2009, 91 (10) :1278-1281.
    [13]LUO KZ, YANG X, TONG DJ, et al.Direct sequencing and analysis of exone of Wilson’s disease gene with the most mutations:a study in Hunan Han patients[J].Chin J Hepatol, 2006, 14 (12) :920-923. (in Chinese) 罗开忠, 杨旭, 童德军, 等.湖南地区肝豆状核变性基因突变热区的序列检查与分析[J].中华肝脏病杂志, 2006, 14 (12) :920-923.
    [14]WONG RJ, GISH R, SCHILSKY M, et al.A clinical assessment of Wilson disease in patients with concurrent liver disease[J].J Clin Gastroenteology, 2011, 45 (3) :1267-1273.
    [15]BREWER GJ.Wilson’s disease:a clinican’s guide to recognition, diagnosis, and managemenet[M].Boston:Kluwer Academic Publeishers, 2001.
    [16]FERENCI P, CACA K, LOUDIANOS G, et al.Diagnosis and phenotypic classification of Wilson disease[J].Liver Int, 2003, 23 (3) :139-142.
    [17]MERLE U, SCHAEFER M, FERENCI P, et al.Clinical presentation, diagnosis and ling-term outcome of Wilson’s disease:a cohort study[J].Gut, 2007, 56 (1) :115-120.
    [18]BRUHA R, MARECEK Z, POSPISILOVA L, et al.Long-term follow-up of Wilson disease:natural history, treatment, mutations analysis and phenotypic correlation[J].Liver Int, 2011, 31 (1) :83-91.
    [19]LUO HY, YANG X, ZHANG YH, et al.Clinical analysis of 13WD patients with fulminant liver failure[J].Chin J Intern Med, 2006, 45 (12) :1020-1021. (in Chinese) 罗红雨, 杨旭, 张永红, 等.暴发性肝衰竭型肝豆状核变性13例临床分析[J].中华内科杂志, 2006, 45 (12) :1020-1021.
    [20]TIAN Y, GONG GZ, YANG X.Prognosis and treatment of fulminant Wilson’s disease[J].J Cent South Univ:Med Sci, 2011, 36 (11) :1111-1114. (in Chinese) 田沂, 龚国忠, 杨旭.暴发型肝豆状核变性的治疗及预后分析[J].中南大学学报:医学版, 2011, 36 (11) :1111-1114.
    [21]YANG X.Wilson disease[M].Changsha:Central South University Press, 2006. (in Chinese) 杨旭.肝豆状核变性[M].长沙:中南大学出版社, 2006.
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  • 收稿日期:  2013-08-27
  • 出版日期:  2013-12-20
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