关键词: Caroli综合征, 儿童, 临床特征

Abstract: Objective    To explore the clinical features of Caroli syndrome in children，including clinical symptoms，signs，laboratory indicators，and imaging pathological and genetic，features. Methods    The clinical data of 10 children with Caroli syndrome diagnosed in Xi'an children's Hospital from January 2018 to June 2021 were analyzed retrospectively. Results    The age range of the 10 children was 2 ~ 9 years old，with an average age of 6.2 years old. All patients visited hospital due to gastrointestinal bleeding，manifested as hematemesis and melena. The levels of white blood cells，red blood cells，hemoglobin，hematocrit，and platelet were reduced. Alanine aminotransferase and aspartate aminotransferase levels were normal. Imaging examination was mainly characterized by intrahepatic bile duct dilation with portal hypertension. All 10 cases had infantile polycystic kidney disease. Liver biopsy in 4 children showed congenital hepatic fibrosis. The susceptibility genes for digestive system diseases in 3 children suggested polycystic kidney and hepatic disease 1 （PKHD1） gene heterozygous mutation（containing three newly identified mutation sites）. Endoscopic ligation of esophageal varices was performed in 5 cases. Postoperative follow-up lasted for half a year，and there was no bleeding again. Gastroscope re-examination showed that esophageal varices was significantly reduced. Conclusion    The main manifestation of Caroli syndrome in children is gastrointestinal bleeding. Imaging features，pathology and genetic examination should be taken into account to avoid missed diagnosis or misdiagnosis. 

Key words: Caroli's syndrome, child, clinical features