[Diagnostics of Wilson's disease].

Area of Science:

• Genetics
• Metabolic Disorders
• Neurology

Background:

• Wilson's disease is a rare, inherited metabolic disorder.
• It involves copper accumulation, leading to liver and neurological damage.
• Early diagnosis and treatment are vital for a positive outcome.

Purpose of the Study:

• To emphasize the importance of early diagnosis and reliable testing for Wilson's disease.
• To outline the diagnostic work-up and available investigation methods.
• To stress the necessity of immediate treatment upon diagnosis.

Main Methods:

• Diagnostic work-up initiated for unexplained liver disease or extrapyramidal symptoms.
• Biochemical and genetic examinations for early detection.
• Ancillary tests including imaging (MRI, SPECT, PET) and functional assessments.

Main Results:

• Wilson's disease presents with diverse symptoms, often between ages 5 and 45, but can occur earlier or later.
• While some tests are unspecific, they aid in assessing organ damage and monitoring disease progression.
• Prompt initiation of therapy is essential once a diagnosis is confirmed.

Conclusions:

• Knowledge and timely diagnosis of Wilson's disease are indispensable.
• Biochemical and genetic testing are key for early identification.
• Adequate treatment following confirmed diagnosis leads to a favorable prognosis.