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Anna Członkowska1,2, Tomasz Litwin3, Petr Dusek4

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Wilson disease (WD) is an inherited copper metabolism disorder caused by ATP7B mutations. Early diagnosis and treatment, including chelation and zinc, improve prognosis, with ongoing research into new therapies.

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Hepatology

Background:

  • Wilson disease (WD) is an inherited disorder of copper metabolism.
  • It results from mutations in the ATP7B gene, leading to copper accumulation in organs like the liver and brain.
  • Clinical presentation varies, often including progressive liver disease, neurological, and psychiatric symptoms.

Purpose of the Study:

  • To summarize the current understanding of Wilson disease.
  • To highlight diagnostic approaches and available treatments.
  • To emphasize the importance of early diagnosis for improved patient outcomes.

Main Methods:

  • Review of existing literature on Wilson disease.
  • Analysis of diagnostic criteria, including clinical signs, copper metabolism tests, and genetic analysis.
  • Overview of current and emerging therapeutic strategies.

Main Results:

  • WD is caused by impaired copper transport due to ATP7B gene mutations.
  • Diagnosis relies on a combination of clinical findings, biochemical tests, and genetic analysis.
  • Effective treatments like chelation therapy and zinc salts exist, alongside liver transplantation for severe cases.

Conclusions:

  • Early diagnosis of Wilson disease is crucial for effective management and improved prognosis.
  • Advances in screening methods hold promise for earlier detection.
  • Ongoing research into novel therapeutic agents and genetic therapies may further enhance patient outcomes.