Xin yixue (Sep 2023)

Congenital hepatic fibrosis complicated with Caroli’s disease: a case report

  • Yang Shuang, Liu Yaping, Gao Lili, Duan Xuefei

DOI
https://doi.org/10.3969/j.issn.0253-9802.2023.09.015
Journal volume & issue
Vol. 54, no. 9
pp. 687 – 690

Abstract

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Congenital hepatic fibrosis (CHF) complicated with Caroli’s disease is a rare autosomal recessive genetic disease with non-specific clinical and imaging manifestations, mainly including portal hypertension and complications, which is likely to be missed and misdiagnosed. In this article, a 32-year-old male patient developed unexplained cirrhosis on physical examination, and he was diagnosed with Caroli’s disease confirmed by histopathological examination of liver puncture and genetic testing. This case suggests the importance of liver puncture for the diagnosis of CHF.

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