A report of 4 patients with the Drash syndrome and a review of the literature

J Urol. 1989 May;141(5):1174-6. doi: 10.1016/s0022-5347(17)41205-5.

Abstract

Four patients with the Drash syndrome, represented by the triad of male pseudohermaphroditism, progressive renal insufficiency and Wilms tumor are discussed. This syndrome, which some have suggested should be expanded to include patients with nephropathy, Wilms tumor and any abnormality of gonadal differentiation, appears early in life. The first sign usually is genital ambiguity. However, proteinuria, hematuria and hypertension eventually require renal biopsy, which may reveal a variety of glomerular and interstitial changes. The nephropathy progresses rapidly, is unresponsive to steroids and eventually requires dialysis. Wilms tumor may appear as a mass on ultrasound or it may not be recognized until nephrectomy or even autopsy. Young children with gonadal dysgenesis and nephropathy are at high risk for nephroblastoma and gonadal tumors and, therefore, prophylactic nephrectomy and gonadectomy should be considered early in the course of this disease.

Publication types

  • Review

MeSH terms

  • Disorders of Sex Development / complications*
  • Humans
  • Infant, Newborn
  • Kidney Failure, Chronic / complications*
  • Kidney Neoplasms / complications*
  • Male
  • Syndrome
  • Wilms Tumor / complications*