Wilson Disease
Conditions
Brief summary
The investigators aimed to identify factors associated with symptoms and features of Wilson disease from a large cohort during long-term follow-up
Detailed description
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.
Interventions
DIETARY_SUPPLEMENTlow copper diet
All patients with wilson disease should receive low copper diet
Sponsors
Second Affiliated Hospital, School of Medicine, Zhejiang University
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
6 Years to 65 Years
Healthy volunteers
No
Inclusion criteria
* genetically diagnosed patients with wilson disease
Exclusion criteria
* Deny follow-up
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Serum ceruloplasmin | From 2004 through 2030 | Serum ceruloplasmin levels were collected among patients with wilson disease. After confirming a non-Gaussian distribution, the reference range of serum ceruloplasmin level was determined. |
| Urinary Copper Excretion | From 2004 through 2030 | The measurement of 24-hour urine copper excretions were collected and measured. |
| Kayser-Fleischer Rings | From 2004 through 2030 | The presence of Kayser-Fleischer Rings among patients with wilson disease were confirmed via slit lamp. |
| Brain Magnetic Resonance Imaging | From 2004 through 2030 | Brain Magnetic Resonance Imaging of all patients were collected and analyzed. |
Countries
China
Contacts
Primary ContactYi Dong, Ph.D.
Outcome results
None listed