Denys-Drash syndrome

J Formos Med Assoc. 2004 Jan;103(1):71-4.

Abstract

We report a case of Denys-Drash syndrome, a disorder characterized by male pseudohermaphroditism, congenital nephrotic syndrome, and early renal failure. The patient received dialysis therapy from 15 days of age until his death at the age of 6 months. DNA analysis was performed on the WT1 gene, and a missense point mutation was detected in exon 8 (R366H). After prenatal confirmation of normal WT1 gene in the family's next child, they had a healthy baby 14 months after the patient's death.

Publication types

  • Case Reports

MeSH terms

  • Denys-Drash Syndrome / complications
  • Denys-Drash Syndrome / genetics*
  • Exons
  • Fatal Outcome
  • Humans
  • Infant
  • Male
  • Mutation, Missense*
  • Nephrotic Syndrome / complications
  • Nephrotic Syndrome / congenital
  • Point Mutation*
  • Renal Dialysis
  • Renal Insufficiency / etiology
  • Renal Insufficiency / therapy