临床肝胆病杂志2025，Vol.41Issue(4)：784-792,9.DOI:10.12449/JCH250428
进行性家族性肝内胆汁淤积症的基因分型及治疗进展
Advances in genotyping and treatment of progressive familial intrahepatic cholestasis
摘要
Abstract
Progressive family intrahepatic cholestasis(PFIC)is a rare group of autosomal recessive disorders.In recent years,with the development of molecular biology,new pathogenic genes have been constantly identified,and PFIC is currently categorized into 12 genotypes based on the OMIM database.The main manifestations of PFIC include jaundice,pruritus,growth retardation,and malabsorption of fat-soluble vitamins,and some variants can rapidly progress to liver fibrosis,liver cirrhosis,liver failure,and even liver cancer.Different types of PFIC have different clinical manifestations and treatment strategies,and genetic testing can help to achieve early identification and diagnosis.This article reviews the latest advances in the genotyping,clinical features,and treatment of PFIC.关键词
胆汁淤积,肝内/基因型/治疗学Key words
Cholestasis,Intrahepatic/Genotype/Therapeutics引用本文复制引用
刘怡静,周方..进行性家族性肝内胆汁淤积症的基因分型及治疗进展[J].临床肝胆病杂志,2025,41(4):784-792,9.基金项目
河南省医学科技攻关省部共建重点计划项目(SBGJ202002125) （SBGJ202002125）
河南省科技攻关计划项目(232102311124) Key Medical Science and Technology Project of Henan Province(SBGJ202002125) （232102311124）
Henan Provincial Science and Technology Plan Project(232102311124) （232102311124）
