Genetic renal or urinary tract malformation

Genetic renal or urinary tract malformation, also known as congenital anomalies of the kidney and urinary tract (CAKUT) of genetic origin, encompasses a broad group of inherited structural defects affecting the kidneys, ureters, bladder, and/or urethra. These malformations arise during embryonic development when the normal formation of the urinary tract is disrupted due to underlying genetic causes. The spectrum of anomalies includes renal agenesis (absence of one or both kidneys), renal hypoplasia or dysplasia, duplex collecting systems, hydronephrosis, vesicoureteral reflux, posterior urethral valves, ureteropelvic junction obstruction, and megaureter, among others. Clinical presentation is highly variable, ranging from incidental findings on prenatal ultrasound to severe bilateral anomalies that can cause oligohydramnios, pulmonary hypoplasia, and neonatal renal failure. Milder forms may present later in childhood or adulthood with recurrent urinary tract infections, hypertension, proteinuria, or progressive chronic kidney disease. CAKUT of genetic origin accounts for a significant proportion of chronic kidney disease and end-stage renal disease in children. Numerous genes have been implicated, including PAX2, HNF1B, EYA1, SIX1, SIX2, SALL1, RET, GDNF, BMP4, and others, with both monogenic and complex genetic contributions recognized. Management depends on the specific malformation and its severity. Treatment may include surveillance with serial imaging and renal function monitoring, antibiotic prophylaxis for vesicoureteral reflux, surgical correction of obstructive anomalies, and management of hypertension and chronic kidney disease. In severe cases, renal replacement therapy including dialysis or kidney transplantation may be necessary. Genetic counseling is recommended for affected families, and prenatal diagnosis through ultrasound and genetic testing can aid in early identification and planning of care.

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