Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents with early-onset nephrotic syndrome characterized by refractory proteinuria and rapid progression to end-stage renal disease (ESRD). History significant for ambiguous genitalia (XY karyotype) noted at birth. Family history negative or positive for WT1-related nephropathy. No current evidence of abdominal mass or hematuria.
Clinical Examination Findings
General: Patient appears chronically ill. Abdomen: Soft, non-tender, no palpable masses suggestive of Wilms tumor. Genitourinary: Ambiguous genitalia noted; testes may be undescended. Renal: Hypertension noted secondary to renal failure. Edema: Generalized anasarca present due to nephrotic syndrome.
Treatment Protocol
Management plan: 1. Nephrology: Aggressive management of nephrotic syndrome; preparation for renal replacement therapy (dialysis/transplant). 2. Oncology: Quarterly renal ultrasound and serum AFP/HCG monitoring for early detection of Wilms tumor. 3. Endocrinology: Evaluation for gonadal dysgenesis and hormone replacement therapy. 4. Surgical: Prophylactic bilateral nephrectomy may be considered due to extremely high risk of Wilms tumor.