内脏异位合并先天性心脏病中纤毛相关变异研究进展  

Research Progress of Cilia-related Mutations in Heterotaxy with Congenital Heart Disease

作　　者：索美姣 马晓静 SUO Meijiao;MA Xiaojing(Department of Heart Center,National Children′s Medical Center/Children′s Hospital of Fudan University,Shanghai 201102,China)

机构地区：[1]国家儿童医学中心复旦大学附属儿科医院心血管中心,上海201102

出　　处：《医学综述》2021年第18期3541-3545,共5页Medical Recapitulate

基　　金：国家自然科学基金(81873482)。

摘　　要：纤毛是一种细胞表面突起的亚细胞结构。由纤毛结构或功能缺陷引起的疾病称为纤毛相关疾病,可导致人体多种器官发育畸形。先天性心脏病是一种最常见的出生缺陷,而内脏异位是一种由胚胎时期身体左右轴发育异常所致的多系统先天性综合征。纤毛相关基因变异与内脏异位合并先天性心脏病密切相关,内脏异位合并先天性心脏病患者纤毛功能障碍发生率较高。进一步研究内脏异位合并先天性心脏病的潜在致病基因以及纤毛相关疾病和先天性心脏病危险因素,有助于改善内脏异位合并先天性心脏病患者的预后。Cilia is a subcellular structure with cell surface protrusions.The disease caused by structural or functional defects of cilia is called ciliopathies,which can lead to abnormal development of various organs in the human body.Congenital heart disease is the most common birth defect,and heterotaxy is a multi-system congenital syndrome caused by abnormal development of the left and right axis of the body during the embryonic period.Cilia-related gene variations are closely related to heterotaxy combined with congenital heart disease,and patients with heterotaxy combined with congenital heart disease have a higher incidence of ciliary dysfunction.Further research on the potential pathogenic genes in heterotaxy combined with congenital heart disease,and risk factors for ciliopathies and congenital heart disease will help to improve the prognosis of patients with heterotaxy combined with congenital heart disease.

关 键 词：先天性心脏病 内脏异位 纤毛 

分 类 号：R725[医药卫生—儿科]