Adrián Mayo-Juanatey , María José Fernández-Llavador , María del Mar Fernández-Garcés , Elia Valls-Pascual , Juan José Alegre-Sancho
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引用次数: 0
摘要
VEXAS 综合征是一种罕见的疾病，由位于 X 染色体上的 UBA1 基因突变引起。这种突变导致造血干细胞出现特征性空泡化。该病的特征是多种自身炎症和血液学表现，对皮质类固醇治疗有反应并最终依赖于皮质类固醇治疗。在这篇论文中，我们介绍了在我院确诊的两例系列病例，并对迄今为止已发表的证据进行了简要的文献综述。
VEXAS syndrome is a rare entity secondary to UBA1 gene mutations, located on the X chromosome. This mutation generates, as a consequence, a characteristic vacuolation on haematopoietic stem-cells. It is characterized by multiple autoinflammatory and haematologic manifestations, which respond and end up being dependent on corticosteroid treatment. In this publication we present a 2-case series diagnosed at our hospital and make a brief literature review of the published evidence so far.
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