病例报告:维克萨斯综合征与广泛的肺,心脏和骨参与
Zhongbiao Fang1,2, Tingwei Xu3, Meng Zhang4
1Key Laboratory of Artificial Organs and Computational Medicine in Zhejiang Province, Shulan (Hangzhou) Hospital, Shulan International Medical College, Zhejiang Shuren University, Hangzhou, China.
Frontiers in immunology
|December 15, 2025
概括
维克萨斯综合征是一种严重的炎症性疾病,由UBA1基因突变引起,提出了具有挑战性的诊断. 这一案例突出了整个外因子序列的测序.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 免疫学 免疫学 免疫学
- 血液学 血液学 血液学
背景情况:
- 维克萨斯综合征是一种罕见的,严重的全身性炎症性疾病.
- 它是由UBA1基因的体质突变引起的,主要影响男性.
- 维克萨斯综合征具有复杂的表型,经常被误诊.
研究的目的:
- 报告一个77岁的中国男子患有VEXAS综合征的病例.
- 描述VEXAS综合征的诊断挑战和管理.
- 强调整个外因组测序在诊断VEXAS综合征中的实用性.
主要方法:
- 下一代测序 (NGS) 和整个外体组的测序.
- 18F-氧葡萄糖正子发射断层扫描仪-计算机断层扫描仪 (18FDG PET-CT).
- 骨髓吸收 骨髓吸收 骨髓吸收
主要成果:
- 全外体序列测定发现了一个UBA1拼接位突变 (c.118-1G>C),证实了VEXAS综合征.
- 骨髓吸收显示了骨髓前体细胞中特有的细胞质真空化.
- 对疑似小血管血管炎的实证治疗阻止了疾病的进展.
结论:
- 维克萨斯综合征呈现异质,死亡率高.
- 将维克萨斯综合征与其他疾病区分开来是一项挑战.
- 早期诊断和适当的治疗对于管理VEXAS综合征至关重要.
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