[A case of Denys-Drash syndrome with prophylactic bilateral nephrectomy].
Denys-Drash syndrome is a rare disorder consisting of pseudohermaphrodism, Wilms' tumor and nephropathy. We describe here a boy with severe hypospadias and undescended testes, who presented with end-stage renal failure at the age of 1 year and 8 months when he was referred to our hospital. Emergency hemodialysis was performed because of oliguria, edema and severe hypertension, and then peritoneal dialysis was started. The findings of the renal biopsy showed diffuse mesangial sclerosis, consistent with the characteristic change in Denys-Drash syndrome. The analysis of WT1 gene revealed a G-to-A point mutation at 1,186 resulting in a change from Asp to Asn at 396 in exon 9. Since he had no urine output and his kidneys were not functional and in addition, patients with this mutation have been reported to have a high risk of Wilms' tumor, bilateral nephrectomy was performed. The removed kidneys showed no malignancies. Since Denys-Drash syndrome is frequently associated with Wilms' tumor, renal biopsy and gene analysis should be performed on male patients with gonadal anomaly, such as hypospadias and/or undescended testes, and proteinuria.
Yamamoto
Katsusuke
K
Division of Nephrology and Bone Metabolism, Department of Pediatrics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka.
Santo
Yoko
Y
Satomura
Kenichi
K
D030321:Denys-Drash Syndrome / Q000235:genetics / Q000601:surgery*; D006801:Humans; D007223:Infant; D007680:Kidney Neoplasms / Q000517:prevention & control; D008297:Male; D009392:Nephrectomy; D017354:Point Mutation; D012306:Risk; D025721:WT1 Proteins / Q000235:genetics; D009396:Wilms Tumor / Q000517:prevention & control
D025721:WT1 Proteins