Denys-Drash syndrome.
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.
Lin
Hsiao-Chen
HC
Department of Family Medicine, Veterans General Hospital, Taichung, Taiwan.
Lin
Shen-Kai
SK
Wen
Mei-Ching
MC
Tseng
Chung-Fang
CF
Fu
Lin-Shein
LS
Chi
Ching-Shiang
CS
D030321:Denys-Drash Syndrome / Q000150:complications / Q000235:genetics*; D005091:Exons; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D009404:Nephrotic Syndrome / Q000150:complications / Q000151:congenital; D017354:Point Mutation; D006435:Renal Dialysis; D051437:Renal Insufficiency / Q000209:etiology / Q000628:therapy