Sushil Agwan, Lai-Ying Zhang, Thomas Baker, Michael Lane, David Godbolt, John A Mackintosh
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引用次数: 0
摘要
VEXAS(空泡、E1 酶、X-连锁、自体发炎、体细胞)综合征是一种罕见的、最近才发现的疾病,是由于髓系细胞中的 X 连锁 UBA1 基因发生体细胞突变而导致的。它的表现形式多种多样,有可能影响包括肺部在内的多个器官系统。VEXAS 通常对类固醇有反应,但目前还没有关于使用类固醇抑制剂的有力数据。在少数病例中进行造血干细胞移植的证据有限。无论如何,这种疾病的预后很差,治疗算法仍是当务之急。在此,我们介绍了一例VEXAS病例,该病例因发现相对无症状的间质性肺部疾病而引起关注,并导致反复发热和多器官受累。
A vexing case of a 73-year-old man with fevers, orbital cellulitis, and asymptomatic interstitial lung disease.
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a rare and recently identified disease resulting from a somatic mutation in the X-linked UBA1 gene in cells of myeloid lineage. It can present in a myriad of ways with the potential to affect various organ systems, including the lungs. VEXAS is usually steroid responsive, but no strong data exists for the use of a steroid-sparing agent. There is limited emerging evidence for haematopoietic stem cell transplantation in a select number of cases. Regardless, prognosis for this condition is poor and a treatment algorithm remains a priority. Herein, we present a case of VEXAS that came to attention with discovery of a relatively asymptomatic interstitial lung disease and led to recurrent febrile episodes with evolving multi-organ involvement.
期刊介绍:
Respirology Case Reports is an open-access online journal dedicated to the publication of original clinical case reports, case series, clinical images and clinical videos in all fields of respiratory medicine. The Journal encourages the international exchange between clinicians and researchers of experiences in diagnosing and treating uncommon diseases or diseases with unusual presentations. All manuscripts are peer-reviewed through a streamlined process that aims at providing a rapid turnaround time from submission to publication.