Abstract
Progressive familial intrahepatic cholestasis(PFIC) is a group of heterogenous autosomal recessive genetic diseases.PFIC resulted by genetic mutation which leading to bile metabolic disorder.The main manifestations are intrahepatic cholestasis, jaundice and pruritus.There are six subtype including PFIC1、PFIC2、PFIC3 、PFIC4、PFIC5 and PFIC6.PFIC4、PFIC5 and PFIC6 are new subtypes.PFIC1、PFIC2、PFIC3、PFIC4、PFIC5 and PFIC6 caused by ATP8B1、ABCB11、ABCB4、TJP2、NR1H4 and MYO5B respectively.The diagnosis is mainly based on clinical manifestations, biochemical tests, liver histology and gene testing, etc.The treatment is divided into medical treatment of ursodeoxycholic acid, 4-phenylbutyrate acid, and surgical treatment of partial biliary diversion, liver transplantation, etc.This review summarizes the diagnosis and treatment of PFIC. Key words: Progressive familial intrahepatic cholestasis; Diagnose; Therapy
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