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- Title
NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome.
- Authors
Ameli, Sonbol; Mazaheri, Mojgan; Zare-Shahabadi, Ameneh; Ozaltin, Fatih; Asgarian, Fahimeh; Monajemzadeh, Maryam; Bazargani, Behnaz; Ataei, Nematollah; Hajezadeh, Niloofar; Madani, Abbas; Esfahani, Taher; Isaian, Anna; Zenker, Martin; Rezaei, Nima
- Abstract
The article offers information on the familial steroid-resistant nephrotic syndrome (SRNS), an autosomal recessive disorder caused by mutations in the NPHS2 gene. It notes that the syndrome is defined as early onset proteinuria in childhood with hypoalbuminemia, hyperlipidemia, and edema that rapidly progress to end stage renal disease (ESRD). The syndrome is detected between three months and five years of age that often develops to chronic kidney disease (CKD) requiring dialysis.
- Subjects
NEPHROTIC syndrome; AUTOSOMAL recessive polycystic kidney; PROTEINURIA; HYPERLIPIDEMIA; CHRONIC kidney failure
- Publication
Nefrologia, 2012, Vol 32, Issue 5, p674
- ISSN
0211-6995
- Publication type
Article
- DOI
10.3265/Nefrologia.pre2012.Jun.11428