Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 1,000
- 试验地点
- 1
- 主要终点
- Kayser-Fleischer Rings
研究概览
简要总结
The investigators aimed to identify factors associated with symptoms and features of Wilson disease from a large cohort during long-term follow-up
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 6 Years 至 65 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •genetically diagnosed patients with wilson disease
排除标准
- •Deny follow-up
结局指标
主要结局
Kayser-Fleischer Rings
时间窗: From 2004 through 2030
The presence of Kayser-Fleischer Rings among patients with wilson disease were confirmed via slit lamp.
Urinary Copper Excretion
时间窗: From 2004 through 2030
The measurement of 24-hour urine copper excretions were collected and measured.
Brain Magnetic Resonance Imaging
时间窗: From 2004 through 2030
Brain Magnetic Resonance Imaging of all patients were collected and analyzed.
Serum ceruloplasmin
时间窗: 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.
次要结局
未报告次要终点