Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family
نویسندگان
چکیده
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 heterozygotes for mutations in NPHS2 or who have inherited a mutation and a non-neutral polymorphism (R229Q). As well as providing an aetiological explanation, identifying pathogenic mutations and considering genotype-phenotype correlations can provide prognostic information and lead to changes in genetic counselling and management.
منابع مشابه
Clinical 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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