摘要
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 PFIC 1、PFIC2、P F IC 3、PFIC4、PFIC5 and PFIC6.PFIC4、PFIC5 and PFIC6 are new subtypes.PFIC 1、PFIC2、PH C 3,PFIC4,PHC5 and PFIC6 caused by ATP8B1.ABCB11,ABCB4,TJP2,NR1H4 and MY05B 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.
作者
周霄颖(综述)
刘志峰(审校)
金玉(审校)
Zhou Xiaoying;Liu Zhifeng;Jin Yu(Department of Gastroenterology,the Affiliated Children's Hospital o f Nanjing Medical University,Nanjing 210008,China)
出处
《国际儿科学杂志》
2019年第7期486-490,共5页
International Journal of Pediatrics
基金
国家自然科学基金面上项目(81570470)
关键词
进行性家族性肝内胆汁淤积症
诊断
治疗
Progressive familial intrahepatic cholestasis
Diagnose
Therapy
