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Updated: Apr 15, 2026

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Published on: May 6, 2018
Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family
Vani Jain1, John Feehally2, Gabriela Jones1
1Department of Clinical Genetics , Leicester Royal Infirmary, University Hospitals of Leicester , Leicester , UK.
Abstract:
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.
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