Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults
Open Access
- 17 June 2006
- journal article
- case report
- Published by Oxford University Press (OUP) in Nephrology Dialysis Transplantation
- Vol. 21 (9), 2660-2663
- https://doi.org/10.1093/ndt/gfl348
Abstract
Nephronophthisis (NPH) is an autosomal recessive nephropathy with chronic tubulointerstitial involvement, which represents the leading cause of end-stage renal disease (ESRD) in children and adolescents. According to the age at onset of ESRD, three forms of NPH have been described: infantile, juvenile (the most frequent) and adolescent.This publication has 12 references indexed in Scilit:
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