先天性肝纤维化伴Caroli综合征一例

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

先天性肝纤维化(CHF)伴Caroli综合征是一种罕见的常染色体隐性遗传病,临床及影像学表现无特异性,主要为门静脉高压及并发症等表现,易漏诊、误诊。该文报道1例32岁男性体检发现不明原因肝硬化,经肝穿刺组织病理学检查及基因检测确诊为Caroli综合征,该病例提示肝穿刺对于CHF诊断的重要性。

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.