Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease

Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease

The investigators aimed to identify factors associated with symptoms and features of Wilson disease from a large cohort during long-term follow-up

Wilson disease is an autosomal recessive disorder that impairs copper homeostasis and is caused by homozygous or compound heterozygous mutations in ATP7B, which encodes a copper-transporting P-type ATPase. Patients have variable clinical manifestations and laboratory test results, resulting in diagnostic dilemmas. Therefore, the investigators aimed to identify factors associated with symptoms and features of Wilson disease, thereby give timely diagnosis for patients.

Inclusion Criteria:

• genetically diagnosed patients with wilson disease

Exclusion Criteria:

• Deny follow-up