A case of diffuse mesangial sclerosis with WT1 missense mutation

Abstract

We reported a female patient with steroid resistant nephrotic syndrome of early onset (1 year) and rapid progression to end stage renal disease with mutation in the Wilms'tumor suppressor gene WT1. Analysis of WT1 in this patient presents the so-called hot spot mutation of exon9 (R 394 W). Which has been reported in many patients with Denys-Drash syndrome. It is suggested that she is incomplete Denys-Drash syndrome. It is proposed that patients with rapidly progressive nephrotic syndrome should be analysed of WT1 mutations. We think that we have to consider careful observation and preventive kidney extraction with renal transplant simultaneously when having confirmed mutation of WT1 because a risk of Wilms'tumor outbreak is high.