Model Answer
0 min readIntroduction
Nephrotic syndrome is the most common glomerular disease in childhood, typically presenting between 2 and 6 years of age. It is characterized by massive proteinuria, hypoalbuminemia, edema, and hyperlipidemia. While minimal change disease is the most frequent cause, other etiologies must be considered, especially with atypical presentations. The clinical picture of a three-year-old presenting with facial swelling, pedal edema, abdominal distension, and significant proteinuria (++++) strongly suggests a nephrotic syndrome. However, a thorough evaluation is crucial to determine the underlying cause and initiate appropriate management.
Differential Diagnosis
The clinical presentation points towards nephrotic syndrome, but several subtypes need consideration:
- Minimal Change Disease (MCD): The most common cause (80-90% of cases) in children. Responds well to steroid therapy.
- Focal Segmental Glomerulosclerosis (FSGS): More likely if steroid-resistant or associated with hematuria.
- Membranoproliferative Glomerulonephritis (MPGN): Less common, often associated with complement abnormalities.
- Congenital Nephrotic Syndrome: Presents early in life (within the first 3 months) and is often associated with genetic mutations.
- Secondary Nephrotic Syndrome: Due to systemic diseases like SLE, infections (hepatitis B, HIV), or medications.
Investigations
A comprehensive workup is essential to confirm the diagnosis and determine the etiology:
- Urine Analysis: Confirms proteinuria (++++), may show lipid casts.
- Serum Albumin: Typically <2.5 g/dL.
- Serum Cholesterol & Triglycerides: Elevated due to increased hepatic synthesis.
- Complete Blood Count (CBC): To assess for anemia and infection.
- Renal Function Tests (RFT): Serum creatinine, BUN to assess kidney function.
- Complement Levels (C3, C4): To rule out MPGN.
- Urine Protein/Creatinine Ratio (UPCR): Quantifies proteinuria.
- Kidney Biopsy: Essential for definitive diagnosis, especially if steroid-resistant, atypical presentation, or suspicion of secondary causes.
- Serological Tests: ANA, anti-dsDNA to rule out SLE; Hepatitis B and C serology; HIV testing.
Management
Management of nephrotic syndrome in a three-year-old involves several key components:
1. Initial Management (Acute Phase)
- Diuretics: Furosemide (1-2 mg/kg/dose) to manage edema. Monitor electrolytes.
- Albumin Infusion: May be considered for severe hypoalbuminemia (<2.0 g/dL) and significant edema, but its effect is transient.
- Fluid and Sodium Restriction: Moderate restriction to help control edema.
- Diet: Normal protein intake.
2. Specific Treatment (Based on Diagnosis)
- Minimal Change Disease: Prednisolone (60 mg/m2/day) for 6 weeks, followed by tapering. Relapses are common and may require prolonged or intermittent steroid therapy.
- Steroid-Resistant Nephrotic Syndrome (SRNS): Consider alternative immunosuppressants like cyclosporine, tacrolimus, or mycophenolate mofetil.
- FSGS: Similar to SRNS, often requires prolonged immunosuppression.
- MPGN: Treatment depends on the underlying cause and may involve immunosuppression or plasmapheresis.
3. Complications and Prevention
- Infections: Increased susceptibility due to loss of immunoglobulins in urine. Prophylactic antibiotics are generally not recommended, but vaccination status should be updated.
- Thromboembolism: Hypercoagulable state due to loss of antithrombin III. Monitor for signs of thrombosis.
- Acute Kidney Injury (AKI): Can occur due to hypovolemia or nephrotoxic medications.
- Chronic Kidney Disease (CKD): Long-term follow-up is crucial to monitor renal function and prevent progression to CKD.
4. Monitoring
Regular monitoring is essential:
- Urine Protein/Creatinine Ratio: Weekly initially, then monthly.
- Serum Albumin: Weekly initially, then monthly.
- Renal Function Tests: Monthly.
- Blood Pressure: Regularly.
- Growth and Development: Monitor for growth retardation due to chronic illness and steroid use.
Conclusion
The three-year-old boy’s presentation strongly suggests nephrotic syndrome, most likely minimal change disease. Prompt diagnosis through appropriate investigations, including a kidney biopsy if indicated, is crucial. Management focuses on controlling edema, addressing hypoalbuminemia, and initiating specific therapy based on the underlying etiology. Close monitoring for complications and long-term follow-up are essential to ensure optimal outcomes and prevent progression to chronic kidney disease. A multidisciplinary approach involving pediatricians, nephrologists, and dieticians is vital for comprehensive care.
Answer Length
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