Genetic categorization of congenital genitourinary abnormalities from an embryological perspective

With the acquisition of more advanced technology, new concepts have emerged that contribute to understanding pathologies in the pediatric population, including nephropathies and uropathies, while knowledge of embryology, genetics, and molecular biology has helped refine diagnostic and therapeutic approaches. Various areas of Pediatric Nephrology apply these scientific advancements in genetics and molecular biology, such as the diagnosis and management of renal anomalies, renal neoplasms, and hypertension. These topics, previously underexplored in children with kidney disease from a genetic standpoint due to their low incidence and lack/expense of genotyping technologies, are gaining recognition due to their implications in the progression toward chronic kidney failure.

This review aims to provide insights into the relevance of genetic evaluation of extra-renal anomalies related to kidney and urinary tract malformations, such as in cases of single umbilical artery, underdevelopment of facial bones, abnormalities of the orbits and auricles, congenital heart diseases, anorectal malformations, external genitalia alterations, supernumerary nipples, as well as all abnormalities observed during prenatal ultrasounds.