Wilson disease.

Area of Science:

• Genetics
• Metabolic Disorders
• Hepatology

Background:

• Wilson disease (WD) is an autosomal recessive disorder impacting copper metabolism.
• The ATP7B gene encodes a protein crucial for copper excretion and transport.
• Impaired ATP7B function leads to excessive copper accumulation in the body.

Purpose of the Study:

• To summarize the pathophysiology of Wilson disease.
• To outline diagnostic approaches for Wilson disease.
• To discuss the role of genetic testing in Wilson disease management.

Main Methods:

• Review of existing literature on Wilson disease genetics and clinical presentation.
• Analysis of diagnostic criteria including clinical, laboratory, and histochemical findings.
• Evaluation of the utility of molecular genetic testing and polymerase chain reaction.

Main Results:

• Over 200 mutations in the WD gene (ATP7B) have been identified, causing impaired copper metabolism.
• Copper accumulation induces oxidative stress, leading to liver damage (steatosis, cirrhosis, liver failure).
• Diagnosis commonly involves low serum ceruloplasmin, increased urinary copper, and hepatic copper content.

Conclusions:

• Wilson disease diagnosis relies on a combination of clinical and laboratory findings.
• Pathological findings can be non-specific, requiring careful interpretation.
• Molecular genetic testing, while challenged by numerous mutations, is valuable for family screening.