一个患有维克萨斯综合征的患者呈现出完全的眼膜
James Krzowski1, Luke Harvey2, Emily Mitchell3
1West Suffolk Hospital NHS Foundation Trust, Suffolk, UK.
European journal of case reports in internal medicine
|October 9, 2025
概括
维克萨斯 (真空,E1酶,X链接,自身炎症,体质) 综合征是一种罕见的疾病,可呈现严重的眼部症状,并迅速发展为多器官疾病. 通过骨髓活检进行早期诊断对于有效管理至关重要.
科学领域:
- 类风湿病学 类风湿病学
- 血液学 血液学 血液学
- 遗传学 遗传学 是一个
背景情况:
- 维克萨斯 (真空体,E1酶,X链接,自身炎症,体质) 综合征是最近发现的一种体质突变驱动的自身炎症疾病.
- 它主要影响老年男性,其特征是体质UBA1突变导致髓状细胞扩张和全身炎症.
- 这种罕见和新的呈现强调了了解独特疾病表现和管理策略的必要性.
研究的目的:
- 报告一个独特的VEXAS综合征病例呈现.
- 突出VEXAS的诊断挑战和快速进展.
- 强调在特定的临床背景下考虑VEXAS的重要性.
主要方法:
- 一个69岁的男性的病例报告,最初的眼部症状进展到多器官参与.
- 诊断工作包括CT扫描,骨髓活检和遗传检测.
- 治疗涉及初始高剂量类固醇,然后在VEXAS确认后接受托西利祖马布.
主要成果:
- 这位患者出现了表皮质炎,眼,纤维性肺部疾病和全细胞衰竭.
- 最初的自身抗体面板是负的,模仿ANCA阴性血管炎.
- 基因检测证实了VEXAS综合征,导致开始托西利祖马布治疗.
结论:
- 维克萨斯综合征最初可能表现为眼部症状,先于全身性疾病.
- 在快速进展的多器官自身炎症综合征中应考虑使用.
- 在对常规疾病修饰性抗风湿药物耐药的炎症条件下,应该怀疑VEXAS.
更多相关视频
09:29Induction of Paralysis and Visual System Injury in Mice by T Cells Specific for Neuromyelitis Optica Autoantigen Aquaporin-4
Published on: August 21, 2017
11.9K
12:23Dynamic Visual Tests to Identify and Quantify Visual Damage and Repair Following Demyelination in Optic Neuritis Patients
Published on: April 14, 2014
14.5K
相关概念视频
Visual Agnosia
970
Visual agnosia is a condition characterized by the inability to recognize visually presented objects despite having normal vision. For instance, a person with visual agnosia can describe the shape and color of an object but cannot identify or name it. This impairment does not affect their visual field, acuity, color vision, brightness discrimination, language, or memory. An example of this condition in a social setting is someone at a dinner party asking for "that silver thing with a round...
970
Prosopagnosia
698
Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...
698
Vascular Spasm
3.3K
The vascular phase, also known as vasospasm, is the initial stage of hemostasis, crucial for preventing excessive bleeding when a blood vessel is injured. After a vessel is cut, nerves in the damaged area trigger pain and other sensory impulses. Simultaneously, the smooth muscles in the vessel wall contract, resulting in a vascular spasm. This contraction reduces the vessel's diameter at the injury site, slowing or stopping blood loss through the vessel wall. Vascular spasms typically last...
3.3K
Disorders of the Skeletal Muscle
1.7K
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
1.7K
Glaucoma: Overview
1.2K
Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
1.2K
Spinal Nerves: Plexus I
2.4K
Nerve plexuses are networks of interlacing nerves that serve as communication hubs to distribute and organize nerve action across various body regions. The nerve plexuses are organized into the cervical plexus located in the neck region, brachial plexus in the shoulder area, lumbar plexus found in the lower back, sacral plexus situated in the pelvis, and coccygeal plexus located in the coccygeal region.
The Cervical Plexus
The cervical plexus, formed by the anterior rami of the first four...
The Cervical Plexus
The cervical plexus, formed by the anterior rami of the first four...
2.4K
