congenital anomalies of the kidney and urinary tract
Congenital abnormalities of the kidney and urinary tract (CAKUT) occur in 1 out of 500 newborns, and constitute approximately 20-30% of all anomalies identified in the prenatal period.
CAKUT has a major role in renal failure, and there is increasing evidence that certain abnormalities predispose to the development of hypertension and cardiovascular disease in adult life.
Congenital anomalies of the kidney and urinary tract (CAKUT) account for one third of all anomalies detected by routine fetal ultrasonography.
CAKUT is the cause of 40% of childhood end-stage renal failure. Acquired glomerulonephritis and congenital nephrotic syndromes, respectively, accounted for just 18% and 8% of cases, with other diseases being rare (nephronophthisis, 5%; cystinosis, 3%; polycystic kidney diseases [PKDs], 3%).
The spectrum of diseases encompassed by the term "CAKUT" is wide, including:
fetal kidney anomalies (renal malformations)
- renal agenesis (renal aplasia)
- renal hypoplasia
- multicystic dysplastic kidneys (renal dysplasias) (MRDs)
fetal ureteric anomalies
- megaureter
- ureteropelvic junction obstruction (UPJO)
- ureterovesical junction obstruction
- ureterovesical junction incompetence
- duplex kidneys/ureters (renal duplications)
fetal vesical anomalies (anaomlies of the bladder)
fetal urethral anomalies
Etiology (Examples)
disruption of ROBO2 in congenital anomalies of the kidney and urinary tract (CAKUT), as vesicoureteral reflux (VUR). (17357069)
References
Schedl A. Renal abnormalities and their developmental origin. Nat Rev Genet. 2007 Oct;8(10):791-802. PMID: 17878895