原发性胆汁性肝硬化家系成员的发病及机制初探  

Pathogenesis and Mechanisms of Primary Biliary Cirrhosis in Family Members

作　　者：柳婧美[1] 周新民[1] 韩英[1] 阎丽[1] 柴娜[1] 陈雄[1] 

机构地区：[1]第四军医大学西京医院消化病研究所,陕西西安710032

出　　处：《现代生物医学进展》2008年第9期1649-1651,1627,共4页Progress in Modern Biomedicine

基　　金：国家自然科学基金资助项目(NO.30470788)

摘　　要：目的:研究原发性胆汁性肝硬化(PBC)家系患者发病时的临床表现、生化指标及人类白细胞抗原(HLA)基因分型的特征,分析该疾病的发病机制,以提高对该病的认识。方法:分别用临床生化分析试剂盒、间接免疫荧光法、免疫印迹法和微阵列聚合酶链式反应(PCR)等技术对收集的31个家系129例一级亲属进行生化指标、自身抗体和HLAⅡ基因分型的相关检测。结果:5个家系出现免疫异常,表现在抗核抗体(ANA)阳性,但仅有一个家系的一个成员出现抗线粒体抗体(AMA)M2型阳性,可诊断为PBC。其中,发现免疫异常的5个家系中2例一级亲属出现肝功能异常,两个家系发现HLAⅡ-DRB1(*08)基因型,另外两个家系共同存在HLAⅡ-DRB1(*07)基因型。结论:PBC具有一定的家族聚集性,其发病可能与HLAⅡ-DRB1(*08)密切相关。Objective： The purposes of this paper were as followed： （ 1 ） the clinical significance and biochemical indicators of familial primary biliary cirrhosis（ PBC ）, （ 2 ） human leucocytes antigen（HLA ） genotyping in the first degree relatives （FDRs） of PBC; （ 3 ） the mechanisms of PBC in order to improve our understanding of this disease. Methods： This paper described 129 cases of FDRs in 31 PBC families. All biochemical profiles were detected by clinical biochemical analysis kits, autoantibodies were tested by indirect immunofluorescence and immunoblotting, and HLA- Ⅱ genotyping was analyzed by micro polymorphism chain reaction （PCR）. Results： Immune abnormalities was detected in 5 families and the antinuclear antibody （ ANA ） was positive. However, PBC was only detected in one member of a family, which exhibited antimitochondrial antibody M2 （ AMA-M2 ） positive. Two FDRs in these five families with immune abnormalities exhibited liver enzyme abnormal. HLA Ⅱ genotyping results revealed that two families of PBC were HLAⅡ -DRB1 haplotypes （ ＊08 ）, and other two families were HLAⅡ -DRB1 haplotype（ ＊07 ）. Conclusions In the same family, PBC clusters together. Moreover, our data indicated that HLAⅡ -DRB 1 （ ＊08 ） allele may play a key role in the pathogenesis of PBC.

关 键 词：原发性胆汁性肝硬化 抗线粒体抗体 一级亲属 

分 类 号：R575.22[医药卫生—消化系统]