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[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 = Zhonghua ganzangbing zazhi = Chinese journal of hepatology - 20 Apr 2024

He J J, Pei Z Y, Zhang L Y

Abstract excerpt

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。.

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Identifiers

PMID: 38733193
DOI: 10.3760/cma.j.cn501113-20231129-00251
PMCID: PMC12822510

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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