[A case of Caroli's disease confirmed by pathology, atypical symptoms and images]

[经病理学、非典型症状和影像学检查确诊的卡罗利氏病病例]

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Abstract

Caroli's disease is a rare congenital disease characterized by non-obstructive dilatation of the intrahepatic bile ducts, with a prevalence of one in a million in the general population[1]. Most of it is considered to be an autosomal recessive genetic disease, but in many cases, the typical genetic family history cannot be traced back. There are two forms of Caroli's disease: simple type (commonly called Caroli disease) and Caroli syndrome (characterized by congenital liver fibrosis and/or polycystic kidney disease). PKHD1 gene is considered to be the causative gene of Caroli's disease, congenital liver fibrosis and/or polycystic kidney disease [2]. Here, we introduce a case of Caroli's disease confirmed by pathology, atypical symptoms and images in our hospital.

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