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Article

New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report

1 Jan 2021

Abstract excerpt

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of end stage renal disease in children. Diagnosis by genetic testing has proven challenging due to its genetic and phenotypic heterogeneity, as well as incomplete penetrance. We report a case on a 16-months old female with a history of renal cysts and a PAX2 mutation. Case presentation: The patient presented with a...

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PMID: 33746522
DOI: 10.1177/1179556521992354

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