Steroid-resistant nephrotic syndrome

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

D. N. Feng, Yang, Y. H., Wang, D. J., Meng, D. C., Fu, R., Wang, J. J., and Yu, Z. H., Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome, vol. 13, pp. 9514-9522, 2014.

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.

Wilms' tumor suppressor gene mutations in girls with sporadic isolated steroid-resistant nephrotic syndrome

Y. H. Yang, Zhao, F., Feng, D. N., Wang, J. J., Wang, C. F., Huang, J., Nie, X. J., Xia, G. Z., Chen, G. M., and Yu, Z. H., Wilms' tumor suppressor gene mutations in girls with sporadic isolated steroid-resistant nephrotic syndrome, vol. 12, pp. 6184-6191, 2013.

Mutations in the Wilms' tumor suppressor gene (WT1) can lead to syndromic forms of steroid-resistant nephrotic syndrome (SRNS) such as Denys-Drash or Frasier syndrome and can cause isolated SRNS. A mutation within WT1 is a frequent cause of sporadic isolated SRNS in girls. In a worldwide cohort of girls, the rate of occurrence was 10.8%. Previous reports have indicated that in Chinese girls, the detection rate of WT1 mutations is 16.7% for early onset isolated nephrotic syndrome.

Subscribe to Steroid-resistant nephrotic syndrome