Scholarlink

Background <p>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.</p> Clinical Presentation <p>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&#xa0;year despite late ocular affection.</p> Conclusion <p>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.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

A diagnostic dilemma in a child with Wilson's disease

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年2月26日

查看全文
  • Dina E. Sallam,
  • Gloria Thomas Guergues,
  • Noha Mohsen Samak,
  • Mohammed Eladawy,
  • Sally Gouda Mohammed,
  • Armia Mounir Agour

摘要

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.