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| Disease found: | Denys-Drash Syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Disorder characterized by abnormal kidney function, Wilms tumor, and disorders of sexual developmentent in affected males (more info) |
| Signs and Symptoms: | Edema, abdominal distention and recurrent infections sometimes present at birth but often developing between 1-2, hypertension, renal failure within the first three years of life, Wilms tumor (abdominal swelling, blood in the urine, low-grade fever, loss of appetite, paleness, weight loss, lethargy); males have genitals that are incompletely formed, ambiguous, or visibly female |
| Diagnosis: | Molecular genetic testing for the WT1 gene |
| Treatment: | Supportive |
| Clinical Management: | Nephrectomy if DDS is diagnosed prior to development of Wilms tumor, hypertension and electrolyte management, renal replacement therapy including dialysis or kidney transplant following end-stage renal failure, gonadectomy due to high risk of gonadal malignancy |
| Referral: | Pediatric nephrologist, pediatric oncologist, pediatric surgeon, pediatric endocrinologist and geneticist. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Natural history of rare kidney diseases registry to sign up for clinical trials, Coordination of Rare Diseases at Sanford registry |