VEXAS综合征：一种新发现的全身性风湿性疾病。
VEXAS syndrome: a newly discovered systemic rheumatic disorder.
作者信息
Kucharz Eugenisz J
机构信息
Department of Internal Medicine, Rheumatology and Clinical Immunology, Medical University of Silesia, Katowice, Poland.
出版信息
Reumatologia. 2023;61(2):123-129. doi: 10.5114/reum/163090. Epub 2023 May 10.
Abstract
VEXAS syndrome is an adult-onset autoinflammatory disease associated with hematologic symptoms. The disease affects primarily males, and leads to death of a significant proportion of the patients. VEXAS syndrome is caused by a somatic mutation of the gene in hematopoietic progenitor cells. The clinical picture of the syndrome consists of a number of organ manifestations including those akin to rheumatic diseases, arthritis, myalgia, vasculitis and chondritis.
摘要
VEXAS综合征是一种与血液学症状相关的成人发病的自身炎症性疾病。该疾病主要影响男性，并导致相当比例的患者死亡。VEXAS综合征由造血祖细胞中该基因的体细胞突变引起。该综合征的临床表现包括许多器官表现，包括类似于风湿性疾病、关节炎、肌痛、血管炎和软骨炎的症状。
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