A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters

被引：20

作者：

Amer, Syed ^{[1
]}

Hajira, Amtul ^{[2
]}

机构：

[1] Mayo Clin, Dept Internal Med, Phoenix, AZ 85054 USA

[2] Carle Fdn Hosp, Dept Family Med, Urbana, IL 61801 USA

来源：

GASTROENTEROLOGY RESEARCH | 2014年 / 7卷 / 02期

关键词：

Progressive familial intrahepatic Cholestasis; Cholestasis; Hepatocanalicular transporters;

D O I：

10.14740/gr609e

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Progressive familial intrahepatic cholestasis or PFIC is a general term used to describe a group of genetic disorders involving the hepatocanalicular transporters. These diseases are characterized by persistent cholestasis, pruritus and jaundice. Type I PFIC is characterized by defect in the gene that codes for aminophospholipid translocase protein and maintains canalicular membrane stability. Types 2 and 3 are caused by defect in genes that code for bile acid transporter and a phospholipid translocase, respectively. This review summarizes the genetics, clinical features, diagnosis and treatment of the three types of PFIC.

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页码：39 / 43

页数：5

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