# Wilson Disease Masquerading as Nephrotic Syndrome: A Case Report

## TL;DR

A child with Wilson disease initially showed symptoms of nephrotic syndrome, highlighting the importance of early diagnosis and treatment for better outcomes.

## Contribution

This case report highlights the rare presentation of Wilson disease as nephrotic syndrome and emphasizes the need for early recognition.

## Key findings

- Nephrotic syndrome can be a rare initial manifestation of Wilson disease.
- Early diagnosis and treatment led to symptomatic and biochemical improvement in the patient.
- Multidisciplinary management is crucial for favorable outcomes in such cases.

## Abstract

Wilson disease (WD) is a rare, autosomal recessive disorder characterized by defective copper metabolism. Renal manifestations in WD are uncommon, and nephrotic syndrome as an initial presentation is rare. An eight-year-old boy presented with progressive abdominal distension and decreased urine output. Examination revealed pedal edema, ascites, and icterus. Investigations showed nephrotic range proteinuria, elevated liver enzymes, low serum ceruloplasmin, and Kayser-Fleischer rings, confirming a diagnosis of WD with associated nephrotic syndrome. WD presented with nephrotic syndrome and was confirmed by clinical findings, biochemical tests, and slit-lamp examination. The patient was started on oral penicillamine, zinc supplementation, hepatic support, and a copper-restricted diet. Subsequent follow-up showed symptomatic and biochemical improvement. Resolution of ascites and proteinuria was achieved, with stabilization of liver function. The patient was later managed for portal hypertension with spironolactone and propranolol. Hence, nephrotic syndrome can be a rare presenting feature of WD. Early recognition and multidisciplinary management are essential for favorable outcomes.