先天性肾盂输尿管连接部梗阻的遗传学研究进展  

Advances in genetic research on congenital ureteropelvic junction obstruction

作　　者：林英甫 董杰 陈超[1] Lin Yingfu;Dong Jie;Chen Chao(Department of Pediatric Surgery,the First Affiliated Hospital of Guangxi Medical University,Nanning 530021,China)

机构地区：[1]广西医科大学第一附属医院小儿外科,南宁530021

出　　处：《中华实用儿科临床杂志》2025年第4期303-307,共5页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家自然科学基金(82060129)。

摘　　要：先天性肾盂输尿管连接部梗阻(UPJO)是新生儿肾积水最常见的原因,发生率为1/2000~1/750。UPJO由胚胎学、环境与遗传等多种因素共同作用引起,其中遗传因素起重要作用。近年来由于遗传学方法快速发展,许多UPJO相关的可疑致病基因和变异位点被发现,为阐明UPJO的病因和发病机制提供了线索。现回顾UPJO的单基因突变、连锁研究、关联研究及DNA测序研究等方面,总结其遗传学发现,为理解UPJO发病机制、实施早期预测及治疗提供依据。Congenital ureteropelvic junction obstruction(UPJO)is the most prevalent cause of hydronephrosis in newborns,with an incidence rate ranging from approximately 1/2000 to 1/750.UPJO is caused by a complex interplay of embryological,environmental and genetic factors,among which genetic factors play a particularly significant role.In recent years,advancements in genetic research methodologies have facilitated the identification of numerous suspected pathogenic genes and variant sites associated with UPJO,which provides clues for clarifying the etiology and pathogenesis of UPJO.In this paper,a comprehensive review of findings from single gene mutation analyses,linkage studies,association studies and DNA sequencing studies pertaining to UPJO was made,and current genetic findings were summarized.The efforts in this study lay an important basis for elucidating the mechanisms underlying UPJO and implementing strategies for early diagnosis and intervention.

关 键 词：肾盂输尿管连接部梗阻 先天性 遗传学 基因突变 非编码RNA DNA测序 

分 类 号：R726.9[医药卫生—儿科]