[Denys-Drash syndrome. Experience gathered in Erlangen illustrated by two case reports]

Urologe A. 2005 Oct;44(10):1197-200. doi: 10.1007/s00120-005-0869-6.
[Article in German]

Abstract

Denys-Drash syndrome is a rare symptom complex associated with obligatory childhood nephrotic syndrome, male pseudohermaphroditism, and Wilms' tumor. The etiology of Denys-Drash syndrome is attributed to a mutation of the WT1 gene. We report on two cases of Deny-Drash syndrome confirmed by genetic testing. Rapidly evolving terminal renal insufficiency was detected in both patients necessitating bilateral nephrectomies with prophylactic intent. In one of the patients, a Wilms' tumor had already been verified in one kidney so that chemotherapy had to be initiated.The risk of Wilms' tumor is very high in patients with a WT1 mutation, which leads to the need for removal of both kidneys during or before transplantation. It would be important to perform a diagnostic work-up for WT1 gene mutation in children who develop renal failure in the 1st year of life.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Denys-Drash Syndrome / diagnosis*
  • Denys-Drash Syndrome / genetics*
  • Denys-Drash Syndrome / therapy
  • Female
  • Genetic Testing*
  • Humans
  • Infant
  • Male
  • WT1 Proteins / genetics*

Substances

  • WT1 Proteins