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Related Experiment Videos

Wilson disease in children.

Eve A Roberts1, Piotr Socha2

  • 1Departments of Paediatrics, Medicine and Pharmacology and Toxicology, University of Toronto, Toronto, Canada.

Handbook of Clinical Neurology
|April 24, 2017
PubMed
Summary
This summary is machine-generated.

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Wilson disease (WD) is an inherited copper metabolism disorder. Early diagnosis and lifelong treatment, including chelation or zinc, are crucial for near-normal longevity in children.

Area of Science:

  • Genetics and Molecular Biology
  • Hepatology
  • Pediatric Medicine

Background:

  • Wilson disease (WD) is an inherited disorder of copper metabolism caused by ATP7B gene mutations.
  • It primarily affects copper disposition in the liver, leading to diverse clinical presentations in children and adults.
  • Hepatic disease is common in pediatric patients, but neurological, psychiatric, and hematological symptoms can also occur.

Purpose of the Study:

  • To summarize the clinical diversity and diagnostic approaches for Wilson disease in pediatric patients.
  • To emphasize the importance of early diagnosis and effective management for long-term patient outcomes.
  • To highlight recent findings on WD-mimic disorders and their implications for understanding WD pathogenesis.

Main Methods:

Keywords:
ATP7BWilson ATPasechildcirrhosiscopperfatty liverfulminant hepatic failurehepatolenticular degeneration

Related Experiment Videos

  • Review of clinical presentations, diagnostic biochemical tests (liver function, ceruloplasmin, urinary copper), and genetic testing.
  • Discussion of management strategies, including oral chelation therapy and zinc for presymptomatic cases.
  • Differentiation of Wilsonian fulminant hepatic failure from decompensated cirrhosis in pediatric patients.

    • Main Results:

    • Wilson disease presents with varied symptoms, with liver disease being common in children.
    • Early diagnosis, ideally in asymptomatic individuals, significantly improves prognosis and longevity.
    • Accurate diagnosis relies on clinical suspicion, biochemical markers, and genetic analysis.

    Conclusions:

    • Timely diagnosis and consistent adherence to lifelong treatment are essential for managing Wilson disease in children.
    • Zinc is a potential therapeutic option for presymptomatic pediatric Wilson disease.
    • Distinguishing WD-related hepatic failure from other causes is critical for appropriate treatment, including liver transplantation decisions.