先天性肾脏和尿路畸形发生机制研究进展  

Pathogenic mechanisms of congenital abnormalities of kidney and urinary tract

作　　者：王富强 姜大朋 徐青雨 于龙 马志 Wang Fuqiang;Jiang Dapeng;Xu Qingyu;Yu Long;Ma Zhi(Department of Pediatric Surgery,Hongqi Hospital,Mudanjiang Medical University,Mudanjiang 157011,China;Department of Urinary Surgery,Shanghai Children's Medical Center,Shanghai Jiao Tong University School of Medicine,Shanghai 200120,China)

机构地区：[1]牡丹江医学院附属红旗医院小儿外科,157011 [2]上海交通大学医学院附属上海儿童医学中心泌尿外科,200120

出　　处：《中华围产医学杂志》2021年第9期714-717,共4页Chinese Journal of Perinatal Medicine

基　　金：黑龙江省省属高等学校基本科研业务费科研项目(2019-KYYWFMY-0041);2020年牡丹江医学院研究生创新科研项目(YJSCX-MY01)。

摘　　要：先天性肾脏和尿路畸形(congenital abnormalities of kidney and urinary tract,CAKUT)是产前超声检查中常见的先天性缺陷。本文综述了胎儿时期的肾脏发育、CAKUT的发病机制,以及胎儿环境对CAKUT的影响。CAKUT可表现为不同程度的肾脏病变,从一过性肾积水到双侧肾重度发育不全等,是儿童时期慢性肾病和终末期肾病的主要致病因素。遗传因素和胎儿环境异常都可能导致CAKUT。超声有助于识别CAKUT,但不能检测出所有缺陷。在CAKUT中发现的单基因变异有助于增进对肾脏发育机制的认识。Congenital abnormalities of the kidney and urinary tract(CAKUT)are common congenital malformations identified by prenatal ultrasound.This review summarizes the fetal renal development,the mechanism of CAKUT,and the influence of the fetal environment on CAKUT.CAKUT can manifest as different degrees of renal disease,from transient hydronephrosis to severe bilateral renal dysplasia,a major risk factor for chronic and end-stage renal disease in childhood.Genetic factors and abnormal fetal environment can both contribute to CAKUT.Ultrasound screening is conducive to detect CAKUT but may miss some defects.Monogenic mutations identified in CAKUT can help us gain more insight into the molecular mechanisms of renal development.

关 键 词：泌尿生殖系统畸形 膀胱输尿管返流 遗传变异 

分 类 号：R714.53[医药卫生—妇产科学]