title: A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters.
abstract: 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.
authors: Department of Internal Medicine, Mayo Clinic, Phoenix, AZ 85054, USA.
authors: Syed
authors: S
authors: Amer
authors: Department of Family Medicine, Carle Foundation Hospital, Urbana, IL 61801, USA.
authors: Amtul
authors: A
authors: Hajira
keywords: Cholestasis; Hepatocanalicular transporters; Progressive familial intrahepatic Cholestasis