Denys-Drash syndrome

Abstract

Keičiančioji mutacija WT1 gene paprastai yra susijusi su Denys-Drash sindromu. Šiam retam sindromui būdinga greitai progresuojanti nefropatija, vyriškasis pseudohermafroditizmas ir padidėjusi rizika Vilmso navikui. Straipsnyje aprašoma pacientė, kuriai kliniškai nustatytas ir molekulinės genetikos metodais patvirtintas Denys-Drash sindromas. Pacientei nustatyta p.R394W mutacija WT1 gene ir klinikiniai Denys-Drash simptomai. Constitutional missense mutations in the WT1 gene are usually associated with Denys-Drash syndrome. This rare syndrome is characterized by a rapid progressive nephropathy, male pseudohermaphroditism, and an increased risk for Wilms tumor. We report on a patient with incomplete Denys-Drash syndrome, which was evident by the clinical data and proved by molecular genetics methods. The patient has the mutation p.R394W in the WT1 gene and clinical symptoms of Denys–Drash syndrome.