What is Wilson disease?
Pathological copper accumulation in liver and other tissues.
Symptoms
Hepatitis, cirrhosis, neurologic features and Kayser-Fleischer rings.
Genetic causes
ATP7B mutations.
Inheritance pattern
Autosomal recessive.
Important genes
ATP7B.
Who should be tested?
Patients with unexplained liver disease and first-degree relatives.
Recommended tests
ATP7B sequencing.
Counseling
First-degree relative screening is essential.