VEXAS综合征的研究新进展  

New Advances in the Study of VEXAS Syndrome——Review

作　　者：耿新 杨阳 张爱国 陈宝安[2] GENG Xin;YANG Yang;ZHANG Ai-Guo;CHEN Bao-An(Department of Hematology,Lianshui People′s Hospital,Lianshui 223400,Jiangsu Province,China;Department of Hematology,Zhongda Hospital Affiliated to Southeast University,Nanjing 210009,Jiangsu Province,China)

机构地区：[1]涟水县人民医院血液科,江苏涟水223400 [2]东南大学附属中大医院血液科,江苏南京210009

出　　处：《中国实验血液学杂志》2024年第6期1933-1936,共4页Journal of Experimental Hematology

基　　金：江苏省社会发展项目(BE2018711)。

摘　　要：VEXAS综合征是最近发现的一种自体炎症综合征,主要发病人群为成年男性,该疾病由参与泛素系统激活的X连锁基因UBA1中的蛋氨酸体细胞突变引发。患者常表现出广泛的全身炎症症状(如发热、中性粒细胞皮肤病、软骨炎、肺部浸润、眼部炎症、静脉血栓形成)和血液系统损伤(如巨细胞性贫血、血小板减少症、骨髓和红系前体细胞空泡、骨髓发育不良等),这些因素共同导致了患者的高发病率和死亡率。目前,对于VEXAS综合征的治疗管理方法还不完善,现有主要治疗的目的是控制炎症症状或靶向UBA1突变。对症支持治疗包括控制感染和血栓等危险因素,成分输血,以及使用促造血药物等。本文就VEXAS近两年的发病机制、临床表现和治疗进展进行综述。Vacuoles,E1 enzyme,X-linked,autoinflammatory,and somatic syndrome(VEXAS)is a recently discovered adult-onset autoinflammatory syndrome characterized by methionine somatic mutations affecting the activation of ubiquitin system in the X-linked gene UBA1.Patients present with a wide range of inflammatory manifestations(fever,neutrophil dermatosis,chondritis,pulmonary infiltrates,ocular inflammation,venous thrombosis)and hematological impairment(giant cell anemia,thrombocytopenia,bone marrow and pre-erythrocyte vacuoles,bone marrow dysplasia),consequently contributing to significant morbidity and mortality.Current treatment management method is not well developed,and the main existing therapies are aimed at controlling inflammatory symptoms or targeting UBA1 mutations.Symptomatic supportive care includes control risk factors(such as infection and thrombosis),component transfusion,and use of hematopoietic drugs.This review aims to summarize new advances of the pathogenesis,clinical manifestations and treatment of this disease in the past two years.

关 键 词：VEXAS综合征 血液系统疾病 自身免疫性疾病 UBA1基因 

分 类 号：R593.2[医药卫生—内科学]