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- Title
Novel NPHS1 Gene Mutation in an Iranian Patient with Congenital Nephrotic Syndrome of the Finnish Type.
- Authors
Ameli, Sonbol; Zenker, Martin; Zare-Shahabadi, Ameneh; Taher Esfahani, Seyed; Madani, Abbas; Monajemzadeh, Maryam; Bazargani, Behnaz; Ataei, Nematollah; Hajezadeh, Niloofar; Rezaei, Nima
- Abstract
The article discusses a case study of a 45-day old Iranian infant diagnosed with congenital nephrotic syndrome of the Finnish type (CNF). It is inferred that the infant carries a novel mutation in the NPHS1 gene. The initial standard treatment for patients with CNF is highlighted which include albumin infusions, thyroxine substitution and the prevention of infection.
- Subjects
NEPHROTIC syndrome in children; INFECTION prevention; ALBUMINS; THYROXINE; PEDIATRIC nephrology
- Publication
Nefrologia, 2013, Vol 33, Issue 5, p747
- ISSN
0211-6995
- Publication type
Case Study
- DOI
10.3265/Nefrologia.pre2013.Jun.11838