遗传代谢性肝病患者临床和基因突变特征分析  

Clinical features and gene mutation in patients with inherited metabolic liver diseases

作　　者：王帅 张威 张帆 钱珍[2] 王亚如 辛雪萍 Wang Shuai;Zhang Wei;Zhang Fan(Department of Gastroenterology,Third Affiliated Oriental Hospital to Henan University of Science and Technology,Luoyang 471003,Henan Province,China)

机构地区：[1]河南科技大学第三附属医院/洛阳东方医院消化内科,河南省洛阳市471003 [2]河南科技大学第一附属医院消化内科,河南省洛阳市471003

出　　处：《实用肝脏病杂志》2022年第1期70-73,共4页Journal of Practical Hepatology

基　　金：洛阳市科技计划项目(项目编号:2070002A)。

摘　　要：目的总结过去20年洛阳市各大医院诊治的遗传代谢性肝病(IMLD)患者的临床特征。方法2000~2021年期间洛阳市各大医院诊治的IMLD患者16例,总结、分析其临床特征。结果在16例IMLD患者中,男性10例,女性6例,平均年龄为(26±15)岁;其中金属代谢障碍性疾病8例(肝豆状核变性7例、遗传性血色病1例),遗传性高胆红素血症3例(Gilbert综合征2例、Dubin-Johnson综合征1例),遗传性胆汁淤积症4例【良性复发性肝内胆汁淤积症(BRIC)2例、Alagille综合征1例、Citrin缺乏症1例】和糖原累积病1例;7例肝豆状核变性患者分别来自4个家族,主要为ATP7B基因突变;遗传性血色病为HFE基因突变,Gilbert综合征为UGT1A1基因突变,Dubin-Johnson综合征为ABCC2基因突变,BRIC为ATP8B1基因突变,Alagille综合征为JAG1基因突变,Citrin缺乏症为SLC25A13基因突变,糖原累积病为G6Pase基因突变。结论IMLD以肝豆状核变性较常见,大多IMLD的诊断需要依靠临床资料综合和基因检测。Objective The aim of this study was to summarize the clinical features and gene mutation in patients with inherited metabolic liver diseases(IMLD).Methods 16 patients with IMLD were encountered in five tertiary hospital in Luoyang between 2000 and 2021,and the clinical materials and gene sequencing were reviewed retrospectively.Results Out of the 16 patients with IMLD,10 were male and 6 were female,with the average age of(26±15)yr at presentation,including metal metabolic disorders in 8 cases(Wilson’s disease in 7,hereditary haemochromatosis in 1),hereditary hyperbilirubinemias in 3(Gilbert syndrome in 2,Dubin-Johnson syndrome in 1),hereditary cholestasis in 4[benign recurrent intrahepatic cholestasis(BRIC)in 2,Alagille syndrome in 1 and Citrin deficiency 1 case]and glycogen storage disease in 1 case;7 patients with Wilson’s disease were from 4 families mainly with ATP7B mutation and the patients with hereditary haemochromatosis had HFE mutation,Gilbert syndrome had UGT1A1 mutation,Dubin-Johnson syndrome had ABCC2 mutation,BRIC had ATP8B1 mutation,Alagille syndrome had JAG1 mutation,Citrin deficiency had SLC25A13 mutation and glycogen storage disease had G6Pase mutation.Conclusion The Wilson’s disease is common in patients with IMLD,and the diagnosis depends greatly on the clinical materials and gene sequencing.

关 键 词：遗传代谢性肝病 临床特征 基因突变 

分 类 号：R575[医药卫生—消化系统]