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西妥昔单抗在一名VEXAS综合征患者中的新用途。

Novel use of Siltuximab in a patient with VEXAS Syndrome.

作者信息

Cáceres-Nazario Beatriz, Rivenbark Joshua, Saha Manish K, Mathews Stephanie, Rubinstein Samuel M

机构信息

Department of Medicine, Hematology Division, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Department of Medicine, Division of Nephrology and Hypertension, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

出版信息

Ann Hematol. 2025 Feb;104(2):1259-1267. doi: 10.1007/s00277-024-06037-8. Epub 2024 Oct 17.

Abstract

VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an increasingly recognized disorder that occurs due to somatic mutations of a ubiquitin-activating enzyme encoded by ubiquitin-like modifier activating enzyme 1 gene, UBA1. Clinical findings associated with VEXAS syndrome include recurrent fevers, polychondritis, periorbital edema, pleural effusions, myocarditis and/or pericarditis, hepatosplenomegaly, myelodysplastic syndrome, cytopenias, inflammatory arthritis, neutrophilic dermatosis, and deep venous thrombosis. Novel renal manifestations like interstitial nephritis are infrequent, and to our knowledge, acute renal failure due to C3 glomerulonephritis (C3GN) has not yet been reported. Overwhelming systemic inflammation can result in morbid end-organ damage and death. While there is no formal guideline or established protocol for its management, treatment of VEXAS syndrome with tocilizumab, an interleukin-6 (IL-6)-directed therapy, has been described in the literature. Here, we report a case of a 71-year-old male patient presenting with C3GN as an initial manifestation of VEXAS syndrome and explore the rationale for our approach to treatment with IL-6 blockade. Our patient was initially treated with two inpatient doses of tocilizumab with successful transition to siltuximab in the outpatient setting. He continues to benefit from ongoing siltuximab treatment for more than one year to date without any safety issues or relapse of VEXAS syndrome.

摘要

VEXAS综合征(空泡、E1酶、X连锁、自身炎症性、体细胞性)是一种日益受到认可的疾病,它是由泛素样修饰激活酶1基因(UBA1)编码的泛素激活酶的体细胞突变引起的。与VEXAS综合征相关的临床发现包括反复发热、多软骨炎、眶周水肿、胸腔积液、心肌炎和/或心包炎、肝脾肿大、骨髓增生异常综合征、血细胞减少、炎症性关节炎、嗜中性皮肤病和深静脉血栓形成。像间质性肾炎这样的新型肾脏表现并不常见,据我们所知,尚未有因C3肾小球肾炎(C3GN)导致急性肾衰竭的报道。严重的全身炎症可导致严重的终末器官损伤和死亡。虽然目前尚无针对其治疗的正式指南或既定方案,但文献中已描述了用托珠单抗(一种白细胞介素-6(IL-6)导向疗法)治疗VEXAS综合征。在此,我们报告一例71岁男性患者,其以C3GN作为VEXAS综合征的初始表现,并探讨我们采用IL-6阻断治疗方法的理论依据。我们的患者最初接受了两剂住院用托珠单抗治疗,并成功在门诊环境中转用西妥昔单抗。迄今为止,他持续接受西妥昔单抗治疗一年多,未出现任何安全问题或VEXAS综合征复发。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/daad/11971123/ca34b6533a05/277_2024_6037_Fig1_HTML.jpg

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