VEXAS syndrome
VEXAS syndrome
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韦克萨斯综合征
DOI：
10.1007/s12185-022-03448-z
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发表时间：
2022
影响因子：
2.1
通讯作者：
Takami Akiyoshi
中科院分区：
文献类型：
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作者：
Uchino Kaori;Kanasugi Jo;Enomoto Megumi;Kitamura Fumiya;Tsuchida Naomi;Uchiyama Yuri;Maeda Ayaka;Kirino Yohei;Matsumoto Naomichi;Takami Akiyoshi
一位80岁的男性被转诊为全血细胞减少，这是在加入硫唑嘌呤治疗复发性多软骨炎的恶化后发现的。在给他开硫唑嘌呤之前，他已经用强的松龙治疗了4年。实验室检查显示大细胞性贫血(7.3g/dL血红蛋白，平均红细胞体积108fl)，血小板减少(62×109/L)，中性粒细胞计数正常(2.2x109/L)。骨髓抽吸物显示正常细胞和正常男性核型，伴有巨幼细胞改变和小巨核细胞，这一结果与骨髓增生异常综合征(MDS)的诊断一致。我们还在红细胞和髓系细胞中发现了细胞质空泡(图1A-C)。
An 80-year-old man was referred for pancytopenia, which was discovered after addition of azathioprine to treat exacerbation of relapsing polychondritis. He had been treated with prednisolone for 4 years before being prescribed azathioprine. Laboratory evaluation showed macrocytic anemia (7.3 g/dL hemoglobin, mean corpuscular volume [MCV] of 108 fL), thrombocytopenia (62× 109/L), and a normal neutrophil count (2.2× 109/L). Bone marrow aspirate revealed normocellularity and normal male karyotype with megaloblastic changes and micromegakaryocytes, findings consistent with a diagnosis of myelodysplastic syndrome (MDS). We also found cytoplasmic vacuoles in erythroblasts and myeloid cells (Fig. 1 A–C).