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

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.