# Genetics of CAKUT

## TL;DR

This paper reviews the genetic causes of congenital kidney and urinary tract anomalies, focusing on recent discoveries and their clinical implications.

## Contribution

The paper summarizes recent genetic findings and genotype–phenotype correlations in CAKUT over the past decade.

## Key findings

- CAKUT is caused by both monogenic variants and multifactorial influences.
- Recent studies have identified key developmental pathways and genotype–phenotype correlations.
- Emerging genetic mechanisms are informing diagnosis and clinical management.

## Abstract

Congenital anomalies of the kidney and urinary tract (CAKUT) represent a heterogeneous group of developmental disorders and are the leading cause of pediatric chronic kidney disease worldwide. The phenotypic spectrum is broad, encompassing kidney agenesis, hypodysplasia, multicystic dysplastic kidneys, vesicoureteral reflux, obstructive uropathies, and other malformations affecting the kidneys, ureters, and urethra. Advances in genetics have begun to unravel the molecular pathways underlying these diverse phenotypes, yet the complexity of CAKUT reflects contributions from both monogenic variants and multifactorial causes.

This review provides an overview of the current understanding of the genetic causes of CAKUT, beginning with fundamental principles of kidney and urinary tract development, and then focusing on major discoveries in the past ten years. We aim to summarize key genetic findings, with an emphasis on genotype–phenotype correlations and developmental pathways, highlight emerging mechanisms, and discuss their implications for diagnosis, counseling, and clinical management.