[1]李 竹,罗弘志.VEXAS综合征的临床特点及治疗现状[J].医学信息,2024,37(13):174-178.[doi:10.3969/j.issn.1006-1959.2024.13.038]
 Clinical Characteristics and Treatment Status of VEXAS Syndrome.Clinical Characteristics and Treatment Status of VEXAS Syndrome[J].Journal of Medical Information,2024,37(13):174-178.[doi:10.3969/j.issn.1006-1959.2024.13.038]
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VEXAS综合征的临床特点及治疗现状()
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医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
37卷
期数:
2024年13期
页码:
174-178
栏目:
综述
出版日期:
2024-07-01

文章信息/Info

Title:
Clinical Characteristics and Treatment Status of VEXAS Syndrome
文章编号:
1006-1959(2024)13-0174-05
作者:
李 竹罗弘志
(1.成都中医药大学医学技术学院,四川 成都 610054;2.遵义医科大学第三附属医院/遵义市第一人民医院医学检验科,贵州 遵义 563002)
Author(s):
Clinical Characteristics and Treatment Status of VEXAS Syndrome
(1.College of Medical Technology,Chengdu University of Traditional Chinese Medicine,Chengdu 610054,Sichuan,China;2.Department of Laboratory Medicine,the Third Affiliated Hospital of Zunyi Medical University/the First People’s Hospital of Zunyi,Zunyi 563
关键词:
VEXAS综合征UBA1自身免疫性炎症
Keywords:
VEXAS syndromeUBA1Autoimmune inflammation
分类号:
R259
DOI:
10.3969/j.issn.1006-1959.2024.13.038
文献标志码:
A
摘要:
VEXAS综合征是一种由UBA1体细胞变异引起的具有风湿病和血液学特征的成人起病的炎症综合征,为一种严重的进展性疾病,表现出广泛的器官损害,与其他疾病鉴别困难,该类患者常常辗转于医院各大科室。临床实验室检查缺乏特异性,目前诊断完全基于外周血中致病性UBA1变异的基因检测。当前VEXAS综合征缺乏有效的治疗措施,部分患者能通过细胞毒性、酶抑制及免疫抑制治疗缓解病情,而异基因造血干细胞移植也仅在极少数患者中取得较好的治疗效果。VEXAS综合征的临床特征不典型,诊断困难,且缺乏有效的治疗措施,这导致VEXAS综合征死亡率极高,所以及时诊断和尽早采取治疗措施至关重要。本文就VEXAS综合征的临床特点、实验室检查和治疗进行综述,以提高临床医师对VEXAS综合征的认识和诊疗能力。
Abstract:
VEXAS syndrome is an adult-onset inflammatory syndrome with rheumatic and hematological characteristics caused by somatic variation of UBA1. VEXAS syndrome is a serious progressive disease with extensive organ damage, which is difficult to distinguish from other diseases. Therefore, patients with this disease are often transferred to various departments of the hospital. Clinical laboratory tests lack specificity, and the current diagnosis is entirely based on genetic testing of pathogenic UBA1 mutations in peripheral blood. At present, there is no effective treatment for VEXAS syndrome. Some patients can alleviate the disease through cytotoxicity, enzyme inhibition and immunosuppressive therapy, while allogeneic hematopoietic stem cell transplantation has achieved good therapeutic effects in only a few patients. The clinical features of VEXAS syndrome are not typical, the diagnosis is difficult, and there is a lack of effective treatment measures, which leads to a high mortality rate of VEXAS syndrome. Therefore, timely diagnosis and early treatment are very important. This article reviews the clinical characteristics, laboratory examination and treatment of VEXAS syndrome, in order to improve clinicians’ understanding and diagnosis and treatment of VEXAS syndrome.

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更新日期/Last Update: 1900-01-01