The association of Wilms' tumor, male pseudohermaphroditism and diffuse glomerular disease (Drash syndrome): report of eight cases with clinical and morphologic findings and review of the literature

Abstract

In 8 children (6 males) at least 2 of 3 disorders were found--male pseudohermaphroditism (MPH), Wilm's tumor, and glomerular disease. MPH was present in the 6 males; they had abdominal cryptorchidism (6/6), ambiguous genitalia (6/6), negative sex chromatin (5/5), and 46XY karyotype (2/2). The gonads examined microscopically in 3 patients were dysgenetic testes. The renal tumor present in 7 was nephroblastoma (NB) of the classical type without anaplasia or nephroblastomatosis, bilateral in 1, and unilateral but multinodular in 2. Five underwent nephrectomy for a renal mass, and in 2 NB was found at open biopsy or at autopsy. The mean age at diagnosis was 10 months. Glomerular disease in 6 patients began with onset of the nephrotic syndrome between 20 days and 39 months of age; it was resistant to steroid therapy and led to death from renal failure. Microscopically the glomerular process was a diffuse mesangial sclerosis (DMS). The 2 children with NB and MPH, but without DMS are healthy 2 1/2 and 9 years postnephrectomy. Neither familial incidence nor parental consanguinity was found. This syndrome has complete and partial forms, and its early recognition is important both for patient management and for assessment of prognosis.