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2例关节挛缩-肾功能不全-胆汁淤积综合征患儿的临床特征及遗传学分析 被引量：1

Clinical features and genetic analysis of two children with arthrogryposis,renal insufficiency,and cholestasis syndrome
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摘要 胆汁淤积性肝病是以胆汁淤积为主要表现的常见疾病,发病率约为1/2500[1],病因复杂,其中低/正常GGT型胆汁淤积性肝病往往意味着不同严重程度的遗传性肝病,除了进行性家族性肝内胆汁淤积症[2]、胆汁酸合成障碍和良性复发性肝内胆汁淤积症外,关节挛缩-肾功能不全-胆汁淤积综合征(ARC综合征)亦可出现低GGT型胆汁淤积症[3]。
作者 姜涛 罗海燕 欧阳文献 谭艳芳 唐莲 张慧 李双杰 JIANG Tao;LUO Haiyan;OUYANG Wenxian;TAN Yanfang;TANG Lian;ZHANG Hui;LI Shuangjie(Department of Hepatopathy Center,Hunan Children’s Hospital,Changsha 410007,China;Emergency DepartmentⅠ,Hunan Children’s Hospital,Changsha 410007,China)
机构地区 湖南省儿童医院肝病中心科 湖南省儿童医院急诊综合一科
出处 《临床肝胆病杂志》 CAS 北大核心 2022年第2期415-417,共3页 Journal of Clinical Hepatology
基金 2019年国家医疗服务与保障能力提升(医疗卫生机构能力建设)项目。
关键词 胆汁淤积 肝内 关节挛缩 肾功能不全 体征和症状 基因检测 Cholestasis,Intrahepatic Arthrogryposis Renal Insufficiency Signs and Symptoms Genetic Testing
分类号 R725.7 [医药卫生—儿科]
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  • 2Joo Young Jang,Kyung Mo Kim,Gu-Hwan Kim,Eunsil Yu,Jin-Joo Lee,Young Seo Park,Han-Wook Yoo.Clinical Characteristics and VPS33B Mutations in Patients With ARC Syndrome[J].Journal of Pediatric Gastroenterology and Nutrition.2009(3)
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临床肝胆病杂志
2022年 第2期

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