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Wilson Disease Masquerading as Nephrotic Syndrome: A Case Report
Gaurav Gupta1, Shabnam Kalita1, Himel Mondal2
1Pediatrics, All India Institute of Medical Sciences, Guwahati, IND.
Cureus
|July 21, 2025
Summary
Wilson disease (WD), a rare copper metabolism disorder, can uncommonly present with nephrotic syndrome. Early diagnosis and multidisciplinary care, including chelation and diet, led to significant improvement in this pediatric case.
Area of Science:
- Hepatology
- Nephrology
- Genetics
Background:
- Wilson disease (WD) is an autosomal recessive disorder of copper metabolism.
- Renal involvement in WD is infrequent, with nephrotic syndrome being a rare initial manifestation.
Observation:
- An 8-year-old boy presented with abdominal distension, decreased urine output, edema, ascites, and jaundice.
- Investigations revealed nephrotic-range proteinuria, elevated liver enzymes, low ceruloplasmin, and Kayser-Fleischer rings.
- These findings confirmed WD presenting with nephrotic syndrome.
Findings:
- Treatment with penicillamine, zinc, hepatic support, and a copper-restricted diet resulted in symptomatic and biochemical improvement.
- The patient achieved resolution of ascites and proteinuria, with stabilized liver function.
- Portal hypertension was subsequently managed with spironolactone and propranolol.
Implications:
- Nephrotic syndrome is a rare but possible presenting feature of Wilson disease.
- Prompt recognition and integrated management involving hepatology, nephrology, and other specialists are crucial for favorable outcomes in pediatric WD.
- This case highlights the importance of considering systemic manifestations in rare genetic disorders.
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