Congenital anomalies of kidney and urinary tract

Area of Science:

• Pediatric Nephrology
• Developmental Biology
• Medical Genetics

Background:

• Congenital anomalies of the kidney and urinary tract (CAKUT) are prevalent pediatric malformations, accounting for 30% of prenatal diagnoses.
• CAKUT exhibits diverse phenotypes, ranging from vesicoureteral reflux to bilateral renal agenesis, affecting renal and/or lower urinary tract structures.
• These anomalies are the primary cause of kidney failure in children, necessitating dialysis or transplantation, and can lead to adult-onset hypertension and proteinuria.

Purpose of the Study:

• To review the current understanding of CAKUT, including its epidemiology, clinical spectrum, and genetic underpinnings.
• To highlight the knowledge gaps in the genetic etiology of nonsyndromic CAKUT.
• To discuss the uncertainties surrounding prenatal interventions, postnatal therapies, and screening protocols for CAKUT.

Main Methods:

• Literature review of congenital anomalies of the kidney and urinary tract.
• Analysis of existing data on CAKUT prevalence and clinical outcomes.
• Synthesis of current research on genetic causes and molecular mechanisms of kidney development.

Main Results:

• CAKUT is a leading cause of pediatric kidney failure and long-term renal complications.
• Genetic factors are identified in syndromic CAKUT, illuminating kidney development pathways.
• The genetic basis for common nonsyndromic CAKUT remains largely unknown.

Conclusions:

• Further research is crucial to elucidate the genetic causes of nonsyndromic CAKUT.
• Optimal prenatal and postnatal management strategies require further investigation.
• The benefits of screening affected individuals and families need clarification.