Genotype-phenotype associations in WT1 glomerulopathy

Lipska-Zietkiewicz B. S. , Ranchin B., Iatropoulos P., Gellermann J., Melk A., ÖZALTIN F. , ...More

KIDNEY INTERNATIONAL, vol.85, no.5, pp.1169-1178, 2014 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 85 Issue: 5
  • Publication Date: 2014
  • Doi Number: 10.1038/ki.2013.519
  • Title of Journal : KIDNEY INTERNATIONAL
  • Page Numbers: pp.1169-1178
  • Keywords: Denys-Drash syndrome, diffuse mesangial sclerosis, focal segmental glomerulosclerosis, Frasier syndrome, steroid-resistant nephrotic syndrome, WT1, DENYS-DRASH SYNDROME, SPLICE-SITE MUTATIONS, SUPPRESSOR GENE WT1, STEROID-RESISTANT, NEPHROTIC SYNDROME, BINDING ACTIVITY, EXPRESSION, DISORDERS


WT1 mutations cause a wide spectrum of renal and extrarenal manifestations. Here we evaluated disease prevalence, phenotype spectrum, and genotype-phenotype correlations of 61 patients with WT1-related steroid-resistant nephrotic syndrome relative to 700 WT1-negative patients, all with steroid-resistant nephrotic syndrome. WT1 patients more frequently presented with chronic kidney disease and hypertension at diagnosis and exhibited more rapid disease progression. Focal segmental glomerulosclerosis was equally prevalent in both cohorts, but diffuse mesangial sclerosis was largely specific for WT1 disease and was present in 34% of cases. Sex reversal and/or urogenital abnormalities (52%), Wilms tumor (38%), and gonadoblastoma (5%) were almost exclusive to WT1 disease.