检测威尔逊病的最低标准:美国的德尔菲共识
Jeff M Bronstein1, Regino P Gonzalez-Peralta2, Matthew Lorincz3
1Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
International journal of hepatology
|November 10, 2025
概括
在对威尔逊病 (WD) 诊断的最低查标准达成共识. 这些指导方针通过确定胃肠病学和神经病学实践的关键测试和临床症状,有助于及时诊断.
科学领域:
- 肝病学和神经病学 肝病学和神经学
- 罕见疾病的诊断 罕见疾病的诊断
背景情况:
- 威尔逊病 (WD) 诊断需要及时识别才能有效管理.
- 当前的诊断方法在临床实践中可能缺乏标准化的最低查标准.
研究的目的:
- 建立对诊断威尔逊病的最低查标准的共识.
- 为了促进在美国胃肠病学和神经病学设置的实施.
- 支持更早,更准确的WD检测.
主要方法:
- 修改了Delphi小组方法,涉及32名受邀美国胃肠道学家/肝病学家和神经病学家.
- 三轮调查,由四名WD临床专家组成的指导委员会.
- 共识定义为小组成员之间≥80%的共识.
主要成果:
- 在关于WD诊断标准的94/126 (74.6%) 陈述达成共识.
- 关键指标包括神经精神病患者的肝病,病或肝病污名.
- 推测试:神经学检查,24小时尿铜,血清素,凯瑟-弗莱舍尔环检查;肝脏活检以确认.
- 关于非侵入性测试优先于侵入性测试的协议,以及凯瑟-弗莱舍环的缺失,并不排除WD的存在.
结论:
- 确定了引起怀疑威尔逊病的最低标准.
- 确定了确认或排除WD诊断的基本测试.
- 突出了未达成共识的未来研究领域.
- 结果旨在补充临床实践指南,促进多学科合作.
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