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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Wilson's disease cohort | Patients were clinically diagnosed according to the Leipzig Score and included in the study when they were confirmed to carry ATP7B pathogenic variants in 2 different alleles. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| low copper diet | Dietary Supplement | All patients with wilson disease should receive low copper diet |
|
| Measure | Description | Time Frame |
|---|---|---|
| Serum ceruloplasmin | 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. | From 2004 through 2030 |
| Urinary Copper Excretion | The measurement of 24-hour urine copper excretions were collected and measured. | From 2004 through 2030 |
| Kayser-Fleischer Rings | The presence of Kayser-Fleischer Rings among patients with wilson disease were confirmed via slit lamp. | From 2004 through 2030 |
| Brain Magnetic Resonance Imaging | Brain Magnetic Resonance Imaging of all patients were collected and analyzed. | From 2004 through 2030 |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with wilson disease
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Yi Dong, Ph.D. | Contact | +8618367129345 | dongyi720@zju.edu.cn |
| Name | Affiliation | Role |
|---|---|---|
| Zhi-Ying Wu | Second Affiliated Hospital, Zhejiang University School of Medicine | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Second Affiliated Hospital, Zhejiang University School of Medicine | Recruiting | Hangzhou | Zhejiang | 310005 | China |
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| ID | Term |
|---|---|
| D006527 | Hepatolenticular Degeneration |
| ID | Term |
|---|---|
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
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This study was approved by the ethics committees of the local hospitals. After obtaining informed consent from the affected individuals or legal guardians, genetic DNA were collected and reserved.
| D002493 |
| Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D009069 | Movement Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008664 | Metal Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |