Progressive familial intrahepatic cholestasis
10.3760/cma.j.issn.1673-4912.2020.07.003
- VernacularTitle:进行性家族性肝内胆汁淤积症
- Author:
Lingfen XU
1
;
Mei SUN
Author Information
1. 中国医科大学附属盛京医院小儿消化科，沈阳 110004
- From:
Chinese Pediatric Emergency Medicine
2020;27(7):490-493
- CountryChina
- Language:Chinese
-
Abstract:
Progressive familial intrahepatic cholestasis (PFIC) is a rare heterogenous groups of autosomal recessive monogenic disease, resulting in abnormal bile acid formation and secretion.According to the type of gene mutation, PFIC was classified as PFIC 1-6 and more new mutated genes have been identified, such as ABCC12, VPS33B, et al, making diagnosis and treatment more accurate.PFIC is characterized by progressive jaundice and pruritus, growth and development disorders, and fat-soluble vitamin deficiency.Except for PFIC3, the level of γ-glutamyl transpeptidase in serum of PFIC is normal, which is an important clue for clinical diagnosis.However, each type of PFIC has its own characteristics such as the age of onset, disease severity, extrahepatic symptoms, and prognosis.With the progress of the disease, it eventually develops into fibrosis, cirrhosis and liver failure.Treatment includes nutrition, medication, partial external/internal biliary diversion, and liver transplantation.Recent studies on transporters and gene therapy have brought new hope to patients with PFIC.
