Article
Identification of an NPHP1 deletion causing adult form of nephronophthisis.
Irish journal of medical science - 1 Aug 2016
Haghighi A, Savaj S, Haghighi-Kakhki H, Benoit V, Grisart B, Dahan K
Abstract excerpt
AIMS: Nephronophthisis (NPHP) is an autosomal recessive cystic disease of the kidney with main characteristic features of polyuria/polydipsia, mild or absent proteinuria, interstitial fibrosis, and tubular cysts. NPHP is responsible for 5-10 % of inheritable end-stage renal disease (ESRD) cases. We investigated the clinical features and genetic cause of NPHP in a Persian family with three siblings affected by...
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