ATP8B1缺陷病

被引：3
|
作者：
李丽婷
王建设
机构：
[1] 复旦大学附属金山医院儿科
来源：
肝脏 | 2012年 / 17卷 / 08期
关键词：
ATP8B1; GGT; 胆盐; 肝内胆汁淤积;
D O I：
10.14000/j.cnki.issn.1008-1704.2012.08.033
中图分类号：
R725.7 [小儿消化系及腹部疾病];
学科分类号：
摘要：
<正>进行性家族性肝内胆汁淤积症(progressive familial intrahepatic cholestasis,PFIC)是一组常染色体隐性遗传病,以肝内胆汁淤积为主要表现,通常在婴儿或儿童期起病,最终进展至肝功能衰竭。根据致病基因不同,PFIC主要分为3型,即PFIC1、PFIC2、PFIC3。其中PFIC1由ATP8B1基因突变引起,以持续性肝内胆汁淤积、黄疸伴瘙痒为特征,通常在1岁之前发病,随着病情的进展,最终发展为肝纤维化、肝硬化和肝功
引用
收藏
页码：581 / 583
页数：3
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