Article ID Journal Published Year Pages File Type
3108006 Clinical Queries: Nephrology 2013 10 Pages PDF
Abstract

Congenital abnormalities of kidney and urinary tract are the leading cause of end-stage kidney disease in children. These result from genetic as well as environmental causes. The embryology of kidney and urinary tract is modified by genetic mutations leading to CAKUT. These anomalies may occur in isolation or as a part of syndrome with renal as well as non-renal manifestations. The phenotype may vary from asymptomatic abnormalities on one hand to renal agenesis on the other. Lower tract abnormalities are frequently associated. Many of the disorders may be diagnosed antenatally on imaging. Proper antenatal and post-natal management may prevent progression to ESKD. The role of genetics in diagnosis remains unclear at present and needs further evaluation.

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