Congenital malformation of the urinary tract

Congenital Anomalies of the Kidney and Urinary Tract (CAKUTs) refer to congenital anomalies that affect the kidney and urinary tract structures, including kidneys, ureters, bladder, and urethra. The urinary tract development may be disturbed at any point in embryogenesis, causing developmental abnormalities with diverse manifestations.

These anomalies can be severe, such as kidney agenesis, or milder, such as vesicoureteral reflux. CAKUT affects over 1% of live births and accounts for 40–50% of cases of chronic kidney failure in children.

Environmental factors that can lead to CAKUT include maternal diabetes, obesity, malnutrition, alcohol consumption, or medications affecting kidneys development.

Over 50 genes have been identified as the root cause of this condition, with monogenetic variants causing up to 20% of all cases.

CAKUT can be isolated (non-syndromic) or with other phenotypes that affect other organs (syndromic).

Reference

1. Mahmoud A et al. Congenital anomalies of the kidney and urinary tract. Front. Med. 15 July 2024. Sec. Nephrology Volume 11 - 2024