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儿童Caroli综合征10例临床分析OA北大核心CSTPCD

Caroli syndrome in children:A clinical analysis of 10 cases

中文摘要英文摘要

目的 对儿童Caroli综合征的临床症状、体征、实验室指标、影像学、病理学和基因学等特征进行总结和分析.方法 回顾性分析2018年1月至2021年6月收治在西安市儿童医院确诊Caroli综合征的患儿10例,对临床资料进行总结分析.结果 10例患儿年龄范围2~9岁,平均年龄6.2岁.均因消化道出血就诊,表现为呕血、黑便.白细胞、红细胞、血红蛋白、血细胞比容和血小板水平均降低,丙氨酸氨基转移酶和天冬氨酸氨基转移酶水平正常.影像学检查以肝内胆管扩张伴门静脉高压为主要特征,10例患儿均合并婴儿型多囊肾.4例患儿肝穿刺活检提示先天性肝纤维化.3例患儿消化系统疾病易感基因检测均提示多囊肾/多囊肝病变1(polycystic kidney and hepatic disease 1,PKHD1)杂合变异(包含3个新发现的突变位点),5例患儿行胃镜下食管静脉曲张套扎术,术后随访半年,均未再出血,胃镜复查显示食管静脉曲张情况较前明显减轻.结论 儿童Caroli综合征多因消化道出血为主要表现就诊,需结合影像学、病理学及基因学检查,避免漏诊或误诊.

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.

高天娇;任晓侠;韩亚楠;葛库库;邵佩;孙丽娜;方莹

西安市儿童医院消化内科,陕西西安 710003

临床医学

Caroli综合征儿童临床特征

Caroli's syndromechildclinical features

《中国实用儿科杂志》 2024 (005)

375-379,385 / 6

西安市卫生科研人才基金项目(J201703051)

10.19538/j.ek2024050612

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