Denys-Drash syndrome

Denys and Drash syndrome, also known as Drash syndrome, is a rare disorder characterized by gonadal dysgenesis, nephropathy and Wilms tumor. It is named for P. Denys and Allan L. Drash, who first described it. It typically shows first as early nephrotic syndrome that progresses to mesangial renal sclerosis and then kidney failure, usually within the first three years of life. Males show gonadal dysgenesis with undescended testes, while females typically have normal genitalia. Most cases, about 96 percent, involve an abnormality in the WT1 Wilms tumor suppressor gene on chromosome 11, usually in exon 8 or 9. The condition can be inherited in an autosomal dominant pattern, but most cases arise from new mutations in people with no family history. A 1994 review of 150 reported cases found that 38 percent had died, at a mean age of 2 years.