NPHS2 R229Q Polymorphism in Steroid Resistant Nephrotic Syndrome: Is it Responsive to Immunosuppressive Therapy?
نویسندگان
چکیده
منابع مشابه
R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome
Background. The polymorphism R229Q is one of the most commonly reported podocin sequence variations among steroid-resistant nephrotic syndromes (SRNS). Aim of the Study. We investigated the frequency and risk of this polymorphism among a group of Iraqi children with SRNS and steroid-sensitive nephrotic syndrome (SSNS). Patients and Methods. A prospective case control study which was conducted i...
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 کاملSteroid Resistant Nephrotic Syndrome
Minimal Change disease (MCD) is the most common cause of Nephrotic Syndrome (NS) in children accounting for 70 to 90% of cases under the age of 10 years and 50% in older children.In adults MCD is found in 10 to 15% of cases with primary nephrotic syndrome. Most patients with MCD remit with steroids.1 Remission is defined as absence of proteinuria (urine albumin nil or trace on 3 conservative da...
متن کاملMutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children.
BACKGROUND Since the identification of the NPHS2 gene, various investigators have demonstrated that an NPHS2 mutation is a frequent cause of sporadic steroid-resistant nephrotic syndrome (SRNS), and occurs in 10.5-28% of children with the syndrome. Idiopathic nephrotic syndrome (INS) is also the most frequent glomerular disease in Chinese children, of which approximately 20% of cases show stero...
متن کاملNovel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.
Autosomal recessive steroid-resistant nephrotic syndrome (SRINS) belongs to the heterogeneous group of familial nephrotic syndrome and represents a frequent cause of end-stage renal disease in childhood. This kidney disorder is characterized by early onset of proteinuria, progression to end-stage renal disease, and histologic findings of focal segmental glomerulosclerosis, minimal change nephro...
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ژورنال
عنوان ژورنال: Journal of Tropical Pediatrics
سال: 2014
ISSN: 0142-6338,1465-3664
DOI: 10.1093/tropej/fmu006