患有VEXAS综合征的患者的神经表现
Charlotte Bert-Marcaz1, Étienne Fortanier2, Antoine Briantais1
1Internal Medicine Department, Aix Marseille Univ, APHM, hôpital de la Timone, 264 Rue Saint-Pierre, 13385, Marseille, France.
神经问题影响了6%的VEXAS综合征患者,涉及中枢和外围神经系统. 类固醇和向疗法等治疗方法有希望,但死亡率仍然很高.
科学领域:
- 神经学 神经学
- 类风湿病学 类风湿病学
- 遗传学 是一个遗传学.
背景情况:
- 维克萨斯综合征 (Vacuoles,E1酶,X链接,自身炎症,体质) 是最近发现的一种自身炎症性疾病.
- 它是由UBA1基因的体质突变引起的,导致系统性炎症.
- 维克萨斯综合征的神经表现没有得到很好的描述.
研究的目的:
- 为了确定VEXAS综合征中神经学参与的患病率.
- 描述神经系统表现的临床谱.
- 评估神经系统并发症的治疗结果.
主要方法:
- 使用法国VEXAS注册表 (2020年11月-2023年3月) 的数据进行了回顾性多中心研究.
- 纳入通过全国征求意见征集发现的其他病例.
- 确认UBA1体质突变和神经症状的患者的多学科审查.
主要成果:
- 在注册表中的291名 (6%) 患者中,有17名患有神经系统的参与;另外13例病例被确定.
- 30名患者有神经症状:21名 (70%) 患有外周神经系统 (PNS),9名 (30%) 患有中枢神经系统 (CNS).
- 脑后神经系统的表现包括多神经病变和神经干扰. 中枢神经系统的表现包括脑病变,脑梗塞和PRES. 治疗包括类固醇 (68%的改善) 和类固醇节约剂 (90%),死亡率为30%.
结论:
- 神经学表现发生在VEXAS综合征患者的很大一部分.
- 这些表现是多样化的,影响中枢神经系统和外围神经系统.
- 早期诊断和治疗对于管理VEXAS综合征的神经并发症至关重要.
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