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Denys-Drash syndrome

Lin, H.-C.; Lin, S.-K.; Wen, M.-C.; Tseng, C.-F.; Fu, L.-S.; Chi, C.-S.

Journal of the Formosan Medical Association 103(1): 71-74

2004

ISSN/ISBN: 0929-6646
PMID: 15026863
Document Number: 580423
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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