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Deprecated: Implicit conversion from float 251.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Clin+Kidney+J 2014 ; 7 (3): 303-5 Nephropedia Template TP
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Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family #MMPMID25852895
Jain V; Feehally J; Jones G; Robertson L; Nair D; Vasudevan P
Clin Kidney J 2014[Jun]; 7 (3): 303-5 PMID25852895show ga
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.