Podocin Mutation in Steroid Resistant Nephrotic Syndrome
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چکیده
منابع مشابه
Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment.
Human nephrotic syndrome has been related to mutations in glomerular proteins. Mutations in the NPHS2 gene that encodes podocin have been described as responsible for steroid-resistant nephrotic syndrome. It has been advised to test for NPHS2 mutations in parallel or before giving steroid treatment in nephrotic syndrome patients in order to avoid unnecessary therapy. We identified NPHS2 mutatio...
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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 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...
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2. CARIDI G, BERTELLI R, DI DUCA M, et al: Broadening the spectrum of diseases related to podocin mutations. J Am Soc Nephrol 14:1278– 1286, 2003 3. RUF RG, LICHTENBERGER A, KARLE SM, et al: Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 15:722–732, 2004 4. CARRARO M, CARIDI G, BRUSCHI M, et al: Serum glomerular pe...
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تاریخ انتشار 2008