Studying Biochemical Tests and Eye Signs to Diagnose Wilson Disease in Patients Aged 6 to 65

What this Trial Is About

Wilson disease is a genetic disorder that affects copper balance in the body due to mutations in the ATP7B gene. This condition can cause a wide range of symptoms and varied laboratory test results, making diagnosis challenging. Researchers are studying factors linked to symptoms and clinical features of Wilson disease in a large group of patients over a long time to improve timely diagnosis. All patients in the study have a confirmed genetic diagnosis of Wilson disease based on specific ATP7B mutations and clinical criteria. They are advised to follow a low copper diet as part of the management. The study observes patients over many years, from 2004 to 2030, to track disease markers and symptoms. Participants undergo regular assessments including serum ceruloplasmin levels, urinary copper excretion, checks for Kayser-Fleischer rings in the eyes, and brain MRI scans. The researchers collect this data throughout the study period to understand disease progression and diagnostic indicators. The total participation spans many years, allowing detailed long-term follow-up and monitoring by the research team.

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