在VEXAS综合征中的眼睛和轨道表现
Muhammad Abumanhal1,2, Igal Leibovitch3,4, Michael Zisapel4,5
1Oculoplastic, Orbital and Lacrimal Institute, Division of Ophthalmology, Tel Aviv Medical Center, Tel Aviv, Israel. mabumanhal@hotmail.com.
Eye (London, England)
|March 29, 2024
概括
维克萨斯综合征是一种体质突变疾病,通常会影响老年男性,并经常表现为眼部症状,如周围眼圈胀和眼圈炎症. 建议对有血液学疾病和眼睛问题的老年男性进行早期VEXAS检查.
科学领域:
- 眼科医生 眼科 眼科
- 血液学 血液学 血液学
- 遗传学 是一个遗传学.
背景情况:
- 维克萨斯 (VEXAS) 综合征 (真空,E1酶,X链接,自身炎症,体质) 是一种血液炎症状况.
- 它是由体质UBA1基因突变引起的,并且经常与骨髓发育综合征 (MDS) 发生.
研究的目的:
- 详细介绍VEXAS患者观察到的眼球和轨道表现.
- 为了突出VEXAS在一系列病例中的临床表现.
主要方法:
- 在两年内诊断的VEXAS患者的回顾性图表审查.
- 基因组测序和表型分析用于VEXAS诊断.
主要成果:
- 八名男性患者被诊断患有VEXAS,平均年龄为78.7岁.
- 眼部症状首先出现在两名患者中;七名患者以前有MDS病史.
- 常见的眼部发现包括眼周胀 (87.5%),眼道炎症,乳腺炎,肌炎和脑膜炎.
结论:
- 维克萨斯的眼部表现是多样化的,包括轨道炎症,乳腺炎,肌炎,脑膜炎,结膜炎,结膜炎,表皮炎和周围轨道.
- 考虑VEXAS在患有血液学疾病的老年男性中,并表现出眼部症状.
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