杨爽?刘亚平?高丽丽?段雪飞

    【摘要】 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。

    【关键词】 先天性肝纤维化；Caroli综合征；诊断

    Congenital hepatic fibrosis complicated with Caroli’s disease： a case report Yang Shuang， Liu Yaping， Gao Lili， Duan Xuefei. Department of General Medicine， Beijing Ditan Hospital， Capital Medical University， Beijing 100015， China

    Corresponding author， Duan Xuefei， E-mail： duanxuefei@vip.sina.com

    【Abstract】 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 ......