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Case Reports
. 2004 Jan;103(1):71-4.

Denys-Drash syndrome

Hsiao-Chen Lin  1 , Shen-Kai Lin, Mei-Ching Wen, Chung-Fang Tseng, Lin-Shein Fu, Ching-Shiang Chi
Affiliations
  • PMID: 15026863
Case Reports

Denys-Drash syndrome

Hsiao-Chen Lin et al. J Formos Med Assoc. 2004 Jan.

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.

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