A case of Caroli’s disease confirmed by pathology, atypical symptoms and images
10.3760/cma.j.cn501113-20191020-00384
- VernacularTitle:病理证实的症状、影像不典型的Caroli病1例
- Author:
Yumei XIAO
1
;
Tingting PENG
;
Yingxia LIU
Author Information
1. 深圳大学平湖医院感染科 518066
- Keywords:
Genetic diseases, inborn;
Caroli's disease;
Non-obstructive intrahepatic bile duct dilatation;
Multiple liver cysts
- From:
Chinese Journal of Hepatology
2021;29(2):172-174
- CountryChina
- Language:Chinese
-
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.
