维克萨斯综合征的临床特征:系统性审查
Adam Al-Hakim1,2, Scott Goldberg3, Ségolène Gaillard4
1Leeds Institute for rheumatic and musculoskeletal medicine, Leeds, UK.
Rheumatology (Oxford, England)
|June 26, 2025
概括
维克萨斯综合征是一种罕见的自身炎症性疾病,主要影响皮肤,身体症状和呼吸系统. 本综述详细介绍了其全谱,有助于早期诊断和管理这种体质突变疾病.
科学领域:
- 遗传学和免疫学 遗传学和免疫学
- 风湿病学和血液学 风湿病学和血液学
- 皮肤病学和肺病学
背景情况:
- 维克萨斯 (真空,E1酶,X链接,自身炎症,体质) 综合征是最近发现的一种自身炎症状况.
- 了解其完整的表型谱对于诊断和管理至关重要.
研究的目的:
- 系统地描述VEXAS综合征的全部表型谱.
- 建立各种表现的流行率估计.
- 为了确定罕见但具有临床意义的特征.
主要方法:
- 在遵守PRISMA指南的基础上进行系统审查.
- 从已发表的文献中包含遗传确认的VEXAS病例.
- 分析了来自33个病例报告和21个病例系列的720名患者.
主要成果:
- 皮肤干扰 (81.8%) 是最常见的表现,其次是结构性症状 (69.4%) 和呼吸道疾病 (61.3%).
- 其他常见发现包括关节 (47.3%),眼部 (44.3%) 和静脉血栓栓塞 (41.8%).
- 骨髓质疏松症候群影响35.8%;罕见的表现包括心脏 (7.6%),脏 (7.0%) 和中枢神经系统 (7.8%) 的参与.
结论:
- 这篇综述提供了迄今为止最全面的维克萨斯综合征特征.
- 建立了流行率估计,并确定了具有临床影响的罕见表现.
- 这些发现支持早期诊断,改善监测和未来的研究方向.
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