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进行性家族性肝内胆汁淤积症(progressive familial intrahepatic cholestasis,PFIC)是一组异质性常染色体隐性遗传疾病,由基因突变引起胆汁代谢障碍,主要表现为肝内的胆汁淤积、黄疸和瘙痒.主要分为六个亚型:PFIC1、PFIC2、PFIC3和新有学者提出的PFIC4、PFIC5和PFIC6,分别由ATP8B1、AB-CB11、ABCB4、TJP2、NR1H4和MYO5B基因突变引起.诊断主要依靠临床表现、生化检测、影像学、肝脏病理和基因检测等来确诊.治疗分为内科治疗熊去氧胆酸、4-苯基丁酸等和外科治疗部分胆汁分流、肝脏移植等.该文就PFIC的诊断和治疗进行综述.“,”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 re-spectively. 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.