Catalog

Denys-Drash syndrome

No MMS code

Link to WHO Definition

Denys-Drash syndrome – http://id.who.int/icd/entity/904981302

A disease affecting males, caused by mutations in the Wilms tumour suppressor (WT1) gene. This disease is characterised by nephropathy (diffuse mesangial sclerosis) and pure gonadal dysgenesis with male pseudohermaphroditism (with a 46 XY karyotype) or Wilms tumour, leading to rapid decline of the glomerular filtration rate and end stage renal disease. This disease may also present with oedema, abdominal distention, or recurrent infections and poor feeding or growth, decreased activity and oliguria. Confirmation is by detection of proteinuria in a routine urine sample.