Mesh : Humans Male Aged Alveolitis, Extrinsic Allergic / genetics diagnosis Ubiquitin-Activating Enzymes / genetics Syndrome Vacuoles Diagnosis, Differential Tomography, X-Ray Computed Genetic Diseases, X-Linked / genetics complications diagnosis Hereditary Autoinflammatory Diseases / genetics diagnosis complications Mutation Lung Diseases, Interstitial / genetics etiology diagnostic imaging Lung / diagnostic imaging pathology

来  源:   DOI:10.4081/reumatismo.2024.1611

Abstract:
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently characterized disease associated with somatic mutations in the UBA1 gene, which cause dysregulation of ubiquitin-mediated processes. This case describes a 71-year-old male patient with VEXAS syndrome who presented with refractory lung inflammation with a pattern similar to computed tomography hypersensitivity pneumonitis, a novel finding in VEXAS syndrome. The presented clinical case highlights the protean involvement of the lung in VEXAS syndrome and emphasizes the importance of considering interstitial lung disease in the differential diagnosis.
摘要:
液泡,E1酶,X-linked,自身炎症,体细胞(VEXAS)综合征是一种最近表征的与UBA1基因体细胞突变相关的疾病,导致泛素介导的过程失调。该病例描述了一名71岁的男性VEXAS综合征患者,表现为难治性肺部炎症,其模式与计算机断层扫描过敏性肺炎相似。VEXAS综合征的新发现。所提供的临床病例强调了VEXAS综合征中肺的蛋白质参与,并强调了在鉴别诊断中考虑间质性肺病的重要性。
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