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Article

Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults

17 Jun 2006

Abstract excerpt

Nephronophthisis (NPH) is an autosomal recessivenephropathy with chronic tubulointerstitial involve-ment, which represents the leading cause of end-stagerenal disease (ESRD) in children and adolescents.According to the age at onset of ESRD, three forms ofNPH have been described: infantile, juvenile (the mostfrequent) and adolescent.In the juvenile form, polyuro-polydipsia starts at4–6 years, and precedes...

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Identifiers

PMID: 16782989
DOI: 10.1093/ndt/gfl348

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Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adultsPMID 16782989Read ↗

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