Denys-Drash syndrome

Abstract

We report a case of Denys-Drash syndrome, a disorder characterized by male pseudohermaphroditism, congenital nephrotic sydrome, 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 confirmatin of normal WT1 gene in the family's next child, they had a healthy baby 14 months after the patient's death.