在VEXAS综合征患者的双边交替轨道和眼部表现
A Chierigo1, M Akyol1, B Sharma1
1Oculoplastic and Orbital Service, Department of Ophthalmology, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Ocular immunology and inflammation
|May 19, 2025
概括
维克萨斯综合征是一种由UBA1基因突变引起的疾病,可导致眼睛和轨道炎症的复发. 这一案例突出了对这些严重的眼科症状的皮质类固醇和托西利祖马布的成功治疗.
科学领域:
- 眼科医生 眼科 眼科
- 类风湿病学 类风湿病学
- 遗传学 遗传学 是一个
背景情况:
- 维克萨斯综合征是一种自身炎症性疾病,与体质UBA1基因突变有关.
- 它呈现出系统性炎症和血液学异常.
- 眼部干扰影响28-40%的患者.
研究的目的:
- 报告一个独特的VEXAS综合征病例,同时出现双边轨道和眼球炎症.
- 描述VEXAS综合征中第一例同时出现眼睛和轨道疾病的记录,包括视炎.
- 强调在患有循环轨道和眼球炎症的患者中考虑VEXAS综合征的重要性.
主要方法:
- 评估了一名79岁的男性,患有循环轨道和眼睛炎症.
- 诊断工作包括多式眼科成像,CT扫描,血清学检测,UBA1突变遗传检测和骨髓活检.
- 患者接受了口服皮质类固醇治疗,随后接受了tocilizumab治疗.
主要成果:
- 这位患者出现了脑周胀,乳腺炎,前脑膜炎,视体炎和黄斑胀.
- 通过UBA1突变和骨髓活检证实了诊断.
- 用皮质类固醇治疗导致眼科和全身症状完全消失;添加托西利祖马布作为类固醇节约剂.
结论:
- 维克萨斯综合征应在反复的轨道和眼球炎症的差异诊断中考虑.
- 皮质类固醇和托西利祖马布联合治疗有效地控制了与VEXAS综合征相关的眼科症状.
- 这个案例有助于理解维克萨斯综合征的眼科特征.
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