NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome.
نویسندگان
چکیده
1 Pediatrics Center of Excellence. Children's Medical Center, Tehran University of Medical Sciences. Tehran (Iran) 2 Research Center for Immunodeficiencies. Children's Medical Center, Tehran University of Medical Sciences. Tehran (Iran) 3 Department of Pediatrics. Faculty of Medicine, Hacettepe University. Ankara (Turkey) 4 Institute of Human Genetics, University Hospital of Magdeburg. Magdeburg (Germany) 5 Department of Immunology. Molecular Immunology Research Center, Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences. Tehran (Iran)
منابع مشابه
NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.
INTRODUCTION Mutations in podocin (NPHS2) gene have the key role in the pathogenesis of steroid-resistant nephrotic syndrome (SRNS) in children, but data is scarce regarding their prevalence and natural course among different all ethnic groups. This study was aimed to demonstrate the spectrum of NPHS2 mutations in children with SRNS and to compare the clinical course of disease in patients with...
متن کاملClinical Report Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family
Genetic causes of steroid-resistant nephrotic syndrome are being increasingly recognized. Mutations in NPHS2, which encodes the glomerular protein podocin, account for up to 17% of sporadic and 40% of familial cases, where they display an autosomal-recessive pattern of inheritance. This report describes a non-consanguineous family with three generations of individuals who are either compound he...
متن کاملSteroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family
Genetic causes of steroid-resistant nephrotic syndrome are being increasingly recognized. Mutations in NPHS2, which encodes the glomerular protein podocin, account for up to 17% of sporadic and 40% of familial cases, where they display an autosomal-recessive pattern of inheritance. This report describes a non-consanguineous family with three generations of individuals who are either compound he...
متن کاملR229Q polymorphism of NPHS2 gene in patients with late-onset steroid-resistance nephrotic syndrome: a preliminary study.
INTRODUCTION Depending on the response to standard steroid therapy, nephrotic syndrome it is classified to steroid-sensitive and steroid-resistant nephrotic syndrome (SRNS). Mutations in several genes including NPHS2 have been implicated in SRNS. Gene R229Q polymorphism (p.R229Q) of NPHS2 is associated with adolescent- or adult-onset SRNS in European and South American populations. We investiga...
متن کاملClinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood.
Steroid-responsive idiopathic nephrotic syndrome (SSINS) is the most common form of nephrotic syndrome in childhood. This article reports a cohort of familial SSINS with disease onset in childhood. The clinical course in terms of age at onset, symptoms during the initial phase, renal morphology, and outcome was evaluated. Furthermore, linkage to NPHS2, the gene for autosomal-recessive steroid-r...
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ورودعنوان ژورنال:
- Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia
دوره 32 5 شماره
صفحات -
تاریخ انتشار 2012