Pathogenic mechanisms of congenital abnormalities of kidney and urinary tract / 中华围产医学杂志

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.