以神经障碍为突出症状的肝豆状核变性1例报告
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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、
引文
[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.
[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.