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Pediatrics7 papers

Drash syndrome

Last edited: 4/14/2026

Overview

Drash syndrome is a rare genetic disorder characterized by male pseudohermaphroditism, progressive renal failure, and Wilms tumor, often associated with mutations in the WTX gene. 12345

Diagnosis

  • Key Diagnostic Criteria:
  • - XY gonadal dysgenesis or ambiguous genitalia - Presence of proteinuria and/or nephrotic syndrome - Progressive renal insufficiency or glomerular disease (diffuse mesangial sclerosis) - Wilms tumor or predisposition to gonadal neoplasms
  • Recommended Tests:
  • - Genetic testing for WTX gene mutations - Renal function tests (creatinine, GFR) - Urinalysis for proteinuria and hematuria - Ultrasound for abdominal masses (Wilms tumor) - Renal biopsy to confirm glomerular changes 12345

    Management

  • First-Line Treatments:
  • - Early nephrectomy for Wilms tumor to prevent further renal damage 6 - Management of nephrotic syndrome with supportive care (diet, diuretics) 14
  • Adjunctive Treatments:
  • - Renal replacement therapy (dialysis, transplantation) for end-stage renal failure 6 - Prophylactic gonadectomy to prevent gonadal tumors 23
  • Drug Classes/Doses:
  • - No specific drug doses mentioned for primary treatment; supportive care with steroids often ineffective for nephropathy 14

    Special Populations

  • Pediatrics:
  • - Early recognition crucial for managing Wilms tumor and renal complications 1245 - Prophylactic nephrectomy and gonadectomy recommended 23
  • Comorbidities:
  • - Presence of hypertension managed with standard antihypertensive therapy 14

    Key Recommendations

  • Suspect Drash syndrome in children with XY gonadal dysgenesis and seek urine protein levels; consult genetic and nephrology specialists if proteinuria is present. (Evidence: Moderate) 1
  • Consider prophylactic nephrectomy for Wilms tumor and gonadectomy to prevent gonadal neoplasms in patients diagnosed with Drash syndrome. (Evidence: Moderate) 23
  • Early recognition and management of nephrotic syndrome are essential, though steroid therapy is typically ineffective; focus on supportive care and monitor for progression to end-stage renal disease requiring dialysis or transplantation. (Evidence: Moderate) 14
  • References

    1 Shapiro O, Welch TR, Sheridan M, Stred S, Upadhyay J. Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. The Canadian journal of urology 2007. link 2 Jensen JC, Ehrlich RM, Hanna MK, Fine RN, Grunberger I. A report of 4 patients with the Drash syndrome and a review of the literature. The Journal of urology 1989. link41205-5) 3 Manivel JC, Sibley RK, Dehner LP. Complete and incomplete Drash syndrome: a clinicopathologic study of five cases of a dysontogenetic-neoplastic complex. Human pathology 1987. link80199-5) 4 Gallo GE, Chemes HE. 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. Pediatric pathology 1987. link 5 Habib R, Loirat C, Gubler MC, Niaudet P, Bensman A, Levy M et al.. The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): a distinctive glomerular lesion--report of 10 cases. Clinical nephrology 1985. link 6 Goldman SM, Garfinkel DJ, Oh KS, Dorst JP. The Drash syndrome: male pseudohermaphroditism, nephritis, and Wilms tumor. Radiology 1981. link

    Original source

    1. [1]
      Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome.Shapiro O, Welch TR, Sheridan M, Stred S, Upadhyay J The Canadian journal of urology (2007)
    2. [2]
      A report of 4 patients with the Drash syndrome and a review of the literature.Jensen JC, Ehrlich RM, Hanna MK, Fine RN, Grunberger I The Journal of urology (1989)
    3. [3]
    4. [4]
    5. [5]
    6. [6]
      The Drash syndrome: male pseudohermaphroditism, nephritis, and Wilms tumor.Goldman SM, Garfinkel DJ, Oh KS, Dorst JP Radiology (1981)

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