西妥昔单抗在一名 VEXAS 综合征患者身上的新用途。

IF 3 3区 医学 Q2 HEMATOLOGY Annals of Hematology Pub Date : 2024-10-17 DOI:10.1007/s00277-024-06037-8
Beatriz Cáceres-Nazario, Joshua Rivenbark, Manish K Saha, Stephanie Mathews, Samuel M Rubinstein
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引用次数: 0

摘要

VEXAS综合征(空泡、E1酶、X连锁、自身炎症性、体细胞性)是一种日益被认可的疾病,是由于泛素样修饰激活酶1基因(UBA1)编码的泛素激活酶发生体细胞突变而引起的。与 VEXAS 综合征相关的临床表现包括反复发热、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、细胞减少症、炎性关节炎、嗜中性粒细胞皮肤病和深静脉血栓形成。间质性肾炎等新的肾脏表现并不常见,据我们所知,C3 肾小球肾炎(C3GN)导致的急性肾衰竭尚未见报道。过度的全身性炎症可导致病态的终末器官损伤和死亡。虽然目前还没有正式的指南或既定的治疗方案,但文献中已有使用白细胞介素-6(IL-6)导向疗法托西珠单抗治疗 VEXAS 综合征的描述。在此,我们报告了一例71岁男性患者的病例,该患者以C3GN作为VEXAS综合征的初始表现,并探讨了我们采用IL-6阻断疗法的理由。我们的患者最初接受了两次住院剂量的托珠单抗治疗,并在门诊成功转为使用西妥昔单抗。迄今为止,他已从持续一年多的西妥昔单抗治疗中获益,没有出现任何安全性问题或VEXAS综合征复发。
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Novel use of Siltuximab in a patient with VEXAS Syndrome.

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.

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来源期刊
Annals of Hematology
Annals of Hematology 医学-血液学
CiteScore
5.60
自引率
2.90%
发文量
304
审稿时长
2 months
期刊介绍: Annals of Hematology covers the whole spectrum of clinical and experimental hematology, hemostaseology, blood transfusion, and related aspects of medical oncology, including diagnosis and treatment of leukemias, lymphatic neoplasias and solid tumors, and transplantation of hematopoietic stem cells. Coverage includes general aspects of oncology, molecular biology and immunology as pertinent to problems of human blood disease. The journal is associated with the German Society for Hematology and Medical Oncology, and the Austrian Society for Hematology and Oncology.
期刊最新文献
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