摘要
Caroli病是一种以非阻塞性肝内胆管扩张为特征的罕见先天性疾病。大多认为是常染色体隐性遗传病,但许多病例无法追寻典型的遗传家族史。Caroli病包括两种类型,简单型(称为Caroli病)和以先天性肝纤维化和/或多囊肾病为特征的Caroli综合征。认为PKHD1基因是Caroli病、Caroli综合征的致病基因。
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.
作者
肖玉妹
彭婷婷
刘映霞
Xiao Yumei;Peng Tingting;Liu Yingxia(Department of Infectious Diseases,Pinghu Hospital,Affiliated to Shenzhen University,Shenzhen 518066,China;Department of Infectious Diseases,the Third People’s Hospital in Shenzhen,Shenzhen 518066,China)
出处
《中华肝脏病杂志》
CSCD
北大核心
2021年第2期172-174,共3页
Chinese Journal of Hepatology
关键词
遗传性疾病
先天性
CAROLI病
非阻塞性肝内胆管扩张
多发肝囊肿
Genetic diseases,inborn
Caroli's disease
Non-obstructive intrahepatic bile duct dilatation
Multiple liver cysts
