Pathogenic mechanisms of congenital abnormalities of kidney and urinary tract
10.3760/cma.j.cn113903-20201110-01095
- VernacularTitle:先天性肾脏和尿路畸形发生机制研究进展
- Author:
Fuqiang WANG
1
;
Dapeng JIANG
;
Qingyu XU
;
Long YU
;
Zhi MA
Author Information
1. 牡丹江医学院附属红旗医院小儿外科 157011
- Keywords:
Urogenital abnormalities;
Vesico-ureteral reflux;
Genetic variation
- From:
Chinese Journal of Perinatal Medicine
2021;24(9):714-717
- CountryChina
- Language:Chinese
-
Abstract:
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.