Steroid-resistant nephrotic syndrome

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.

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