Pediatrics · Year 3 · from Pediatrics

Case 1: Nephrotic Syndrome

Patient Demographics

  • Age: 4-year-old male
  • Sex: Male

Chief Complaint

"My son's face looks puffy and his eyes are swollen, especially in the morning."

History of Present Illness

A 4-year-old boy is brought to the clinic by his mother who noticed progressive facial swelling over the past week. She first noticed puffiness around his eyes upon waking, but now his entire face appears swollen. Over the past two days, she has also noticed swelling in his legs and that his shoes no longer fit. She reports he has been urinating less frequently, and his urine appears "foamy." He had an upper respiratory infection approximately two weeks ago that resolved without treatment. He has no history of hematuria, abdominal pain, or fever. He has been eating well but seems more tired than usual.

Physical Examination

  • Vital Signs: Temperature 37.0C, HR 95 bpm, RR 20/min, BP 98/62 mmHg
  • General: Well-appearing boy with noticeable facial edema
  • HEENT: Periorbital edema bilaterally, no pharyngeal erythema
  • Cardiovascular: Regular rate and rhythm, no murmurs
  • Respiratory: Clear to auscultation bilaterally, no increased work of breathing
  • Abdomen: Soft, mildly distended with shifting dullness suggesting ascites, no hepatosplenomegaly
  • Extremities: 2+ pitting edema to mid-shins bilaterally, scrotal edema present
  • Skin: No rashes or lesions

Laboratory Findings

  • Urinalysis: Protein 4+, no blood, no WBCs, oval fat bodies present
  • Urine protein/creatinine ratio: 8.5 (nephrotic range >2)
  • Serum albumin: 1.8 g/dL (low; normal 3.5-5.0)
  • Total cholesterol: 385 mg/dL (elevated)
  • Triglycerides: 290 mg/dL (elevated)
  • BUN: 18 mg/dL (normal)
  • Creatinine: 0.4 mg/dL (normal)
  • C3 complement: 125 mg/dL (normal)
  • C4 complement: 32 mg/dL (normal)

Diagnosis

Nephrotic syndrome, presumed minimal change disease

Clinical Reasoning

This child presents with the classic tetrad of nephrotic syndrome: massive proteinuria (protein/creatinine ratio 8.5), hypoalbuminemia (1.8 g/dL), generalized edema, and hyperlipidemia. His age (peak incidence 2-6 years), male sex, normal blood pressure, lack of hematuria, normal renal function, and normal complement levels all support the diagnosis of minimal change disease, which accounts for approximately 80% of childhood nephrotic syndrome. A kidney biopsy is not indicated initially, as most children will respond to corticosteroid therapy.

Management

  1. Corticosteroid therapy: Prednisone 2 mg/kg/day (maximum 60 mg) for 6 weeks daily, followed by 1.5 mg/kg every other day for 6 weeks with gradual taper
  2. Dietary modifications: Sodium restriction during active disease; no protein restriction
  3. Monitor for complications: Watch for infection (especially pneumococcal), thrombosis, and hypovolemia
  4. Vaccinations: Ensure pneumococcal vaccination is up to date; avoid live vaccines during high-dose steroids
  5. Education: Teach parents to monitor for relapse with urine dipstick testing

Clinical Image

Image Description: Clinical photograph demonstrating periorbital edema in a child with nephrotic syndrome, showing characteristic morning puffiness around the eyes.

Source: Wikimedia Commons - Medical gallery of Mikael Haggstrom URL: https://commons.wikimedia.org/wiki/File:Nephrotic_syndrome.jpg License: CC0 Public Domain

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