Triad of disorders:Patients with DDS typically progress to ESRD by the age of 4 years and are at high risk of developing Wilms’ tumor. However, the clinical course is highly variable, making the outcome of an individual patient difficult to predict.
- Ambiguous genitalia
- Nephrotic syndrome leading to end-stage renal disease (ESRD)
- Wilms’ tumor
- Frasier syndrome (FS): Both syndromes are characterized by male pseudohermaphroditism, a progressive glomerulopathy, and the development of genitourinary tumors. DDS and FS have previously been distinguished by differences in nephropathy, with DDS patients demonstrating diffuse mesangial sclerosis (DMS) in contrast to focal and segmental glomerulosclerosis (FSGS) in FS patients.
Management of patients with DDS is challenging; optimal management strategies have not been established.
- Bilateral nephrectomy: After progression of nephropathy to ESRD
- Prophylactic bilateral nephrectomy: Prior to progression to irreversible renal failure (to avoid Wilms’ tumor development and potentially shorten total duration of dialysis)