Progress in the diagnosis and treatment of Caroli disease / 国际外科学杂志

ABSTRACT

Caroli disease is a relatively rare genetic disease, also known as congenital intrahepatic cystic cholangiectasis, which is mainly manifested as non-obstructive segmental dilation of large, intrahepatic bile ducts, which is manifested as cysts in imaging and histopathological examination. The pathogenesis of Caroli disease is still unclear, and it is mainly believed to be related to PKHD1 gene mutation. Mutations in this gene often lead to autosomal recessive polycystic kidney disease (ARPKD), so Caroli disease is commonly associated with polycystic kidney disease. Caroli disease usually develops during adolescence and is characterized by recurrent cholangitis, which is diagnosed mainly by imaging. This article reviews the progress of diagnosis and treatment of Caroli disease by reading related literature.