Abstract：
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an adult-onset autoinflammatory syndrome characterized by somatic mutations in the UBA1 gene and is considered the prototype of hematoinflammatory diseases. Patients with VEXAS syndrome exhibit inflammatory and hematological manifestations that can lead to clinical diagnoses such as relapsing polychondritis, polyarteritis nodosa, Sweet syndrome, and myelodysplastic syndrome. Diagnosis requires bone marrow evaluation to identify cytoplasmic vacuoles in myeloid and erythroid precursors. However, genetic confirmation of mutations in UBA1 is necessary. Treatment is challenging and often involves glucocorticoids and immunosuppressants with variable responses. Hypomethylating agents and allogenic haemopoietic stem cell transplant are considered promising therapies. Prognosis is influenced by genetic and clinical factors. The aim of this review is to provide an overview of the pathogenesis, clinical presentation, treatment, and prognosis of VEXAS syndrome for the Latin American medical community.
摘要：
VEXAS（液泡，E1酶，X-linked,自身炎症,躯体）综合征是一种成人发作的自身炎症综合征，其特征是UBA1基因的体细胞突变，被认为是血液炎症疾病的原型。VEXAS综合征患者表现出炎症和血液学表现，可导致临床诊断，如复发性多软骨炎，结节性多动脉炎,Sweet综合征,和骨髓增生异常综合征.诊断需要骨髓评估，以确定髓样和红细胞前体中的细胞质空泡。然而,UBA1突变的遗传确认是必要的。治疗具有挑战性，通常涉及具有可变反应的糖皮质激素和免疫抑制剂。低甲基化剂和同种异体造血干细胞移植被认为是有前途的疗法。预后受遗传和临床因素的影响。这篇综述的目的是提供发病机制的概述，临床表现,治疗,和拉丁美洲医学界VEXAS综合征的预后。
