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Article

Nephronophthisis: A Genetically Diverse Ciliopathy

1 Jan 2011

Abstract excerpt

Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults. Early presenting symptoms in children with NPHP include polyuria, nocturia, or secondary enuresis, pointing to a urinary concentrating defect. Renal ultrasound typically shows normal kidney size with increased echogenicity and corticomedullary cysts....

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Identifiers

PMID: 21660307
DOI: 10.4061/2011/527137

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