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Volume 41 Issue 4
Apr.  2025
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Article Navigation >  Journal of Clinical Hepatology  > 2025  >  41(4): 784-792

Advances in genotyping and treatment of progressive familial intrahepatic cholestasis

DOI: 10.12449/JCH250428

  • Department of Digestion，Children’s Hospital Affiliated to Zhengzhou University，Henan Children’s Hospital，Zhengzhou Children’s Hospital，Zhengzhou 450053，China

Research funding:

Key Medical Science and Technology Project of Henan Province (SBGJ202002125);

Henan Provincial Science and Technology Plan Project (232102311124)

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  • Corresponding author: ZHOU Fang， zhoufang_78@126.com （ORCID： 0000-0003-0722-4253）
  • Received Date: 2024-07-01
  • Accepted Date: 2024-07-30
  • Published Date: 2025-04-25
    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.

     

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