[A case of cholangitis-type congenital hepatic fibrosis due to a mutation in the polycystic kidney/hepatic disease 1 gene]

J J He; Z Y Pei; L Y Zhang

doi:10.3760/cma.j.cn501113-20231129-00251

[A case of cholangitis-type congenital hepatic fibrosis due to a mutation in the polycystic kidney/hepatic disease 1 gene]

Zhonghua Gan Zang Bing Za Zhi. 2024 Apr 20;32(4):366-369. doi: 10.3760/cma.j.cn501113-20231129-00251.

[Article in Chinese]

Authors

J J He¹, Z Y Pei¹, L Y Zhang¹

Affiliation

¹ Department of Hepatology, Second Hospital of Lanzhou University, Lanzhou 730030, China.

PMID: 38733193
DOI: 10.3760/cma.j.cn501113-20231129-00251

Abstract

先天性肝纤维化目前仍被认为是一种罕见的常染色体隐性遗传性疾病，该病与胆管板畸形所致的肝内胆管遗传发育障碍有关。现以1例多囊肾/多囊肝病变1基因突变致胆管炎型先天性肝纤维化患者为例，探讨该病发病原因、临床表现、诊断要点以及治疗进展，以期能够在一定程度上提高肝胆科医师对该病的认识，从而有效提高早期诊断率。.

Keywords: Congenital hepatic fibrosis; Liver biopsy; Magnetic resonance imaging.

Publication types

Case Reports
English Abstract

MeSH terms

Cholangitis* / genetics
Female
Genetic Diseases, Inborn
Humans
Liver Cirrhosis* / congenital
Liver Cirrhosis* / diagnosis
Liver Cirrhosis* / genetics
Male
Mutation*
TRPP Cation Channels / genetics

Substances

TRPP Cation Channels
polycystic kidney disease 1 protein

Supplementary concepts

Hepatic Fibrosis, Congenital