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Un dilema diagnóstico en un niño con enfermedad de Wilson

Dina E Sallam¹, Gloria Thomas Guergues², Noha Mohsen Samak³

¹Department of Pediatrics and Pediatric Nephrology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

Pediatric nephrology (Berlin, Germany)

|February 26, 2026

Abstracto

Background:

Wilson's disease (WD) is a rare copper (Cu) metabolism disorder with toxic organ accumulation. Diagnosis challenges persist in children with atypical multisystem presentations, including uncommon kidney involvement, that may mimic autoimmune and systemic diseases.

Clinical Presentation:

A 10-year-old girl presented with recurrent jaundice, abdominal pain, weight loss, poor school performance, and polyuria. She had cachexia, hepatosplenomegaly, kinetic hand tremors, non-immune hemolytic anemia, and mild glomerular and tubular dysfunction. Urosepsis triggered decompensation with worsening hepatic function, acute kidney injury (AKI) with Fanconi-like tubulopathy, coagulopathy, low complements, + ve autoantibodies, and elevated IgG. Despite autoimmune and malignancy mimics, Cu studies confirmed WD; D-penicillamine and zinc achieved rapid hepatorenal and hemolysis recovery. Fibrosis regressed at 1 year despite late ocular affection.

Conclusion:

This case underscores diagnostic challenges of pediatric WD with multisystem involvement mimicking autoimmune and malignant disorders, emphasizing early Cu studies in multisystem jaundice. Timely chelation therapy achieved rapid improvement.

Palabras clave:

IRA Quelación Cu Fanconi Infección ED

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