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Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome

Author(s): D.N. Feng1*, Y.H. Yang1*, D.J. Wang1*, D.C. Meng1*, R. Fu1, J.J. Wang1 and Z.H. Yu1,2,3

Recent studies have demonstrated that mutations in 4 podocyte genes, NPHS1, NPHS2, CD2AP, and WT1, are associated with the pathogenesis of steroid-resistant nephrotic syndrome (SRNS). Systematic investigation of all 4 genes for sporadic SRNS in China has not been performed. We examined 10 Chinese children with sporadic SRNS who showed no response to immunosuppressive agents and 20 SRNS controls who exhibited a response to prolonged steroid or immunosuppressive treatment and achieved complete remission. We analyzed mutations in the 4 podocyte genes, NPHS1, NPHS2, CD2AP, and WT1. Mutational analysis was performed using polymerase chain reaction and direct sequencing.