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Familial Mediterranean fever mutations in a patient with recurrent episodes of acute respiratory distress syndrome

机译:复发性急性呼吸窘迫综合征患者的家族性地中海热突变

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Dear Editors Acute respiratory distress syndrome (ARDS) is described as a syndrome of acute pulmonary inflammation with a resultant increase in capillary endothelial permeability [1]. Activated lung macrophages are known to play a pivotal role in the pathogenesis of ARDS [2]. Here we report a case with myelodysplatic syndrome (MDS) who suffered from recurrent ARDS, and discuss the contribution of genetic factors to the pathogenesis of recurrent ARDS, based on our experimental studies. The patient was a 66-year-old man who was referred to our hospital because of leukocytosis, anemia and thrombocytosis. He was diagnosed with MDS by bone marrow examination, which revealed hypercellular marrow with dysplasia in myeloid cells and megakaryocytes. After a follow-up of 8 months, he was admitted to our emergency unit because of a low-grade fever and dyspnea following common cold-like symptoms for several days. He had no underlying pulmonary diseases such as chronic obstructive pulmonary disease (COPD). Upon admission (day 1), the laboratory data showed a significant increase in leukocytes (40.6 x 109/L) and thrombocytopenia (platelet 31 x 109/L). Chest X-ray showed bilateral infiltrates, which markedly progressed in 24 h (Fig. 1A). Chest computed tomography (CT) imaging revealed ground-glass opacities in bilateral lung fields (Fig. 1A). Ultrasound cardiography did not detect any evidence of heart failure. Because of severe hypoxemia (PaO2 45.1 mm Hg with 8 L of oxygen supply), he received mechanical ventilation (FiO2 0.6; PaO2 98.0 mm Hg; PaO2/ FiO2 = 163.3).
机译:尊敬的编辑者急性呼吸窘迫综合征(ARDS)被描述为急性肺部炎症综合征,其毛细血管内皮通透性增加[1]。已知活化的肺巨噬细胞在ARDS的发病机制中起关键作用[2]。在此,根据我们的实验研究,我们报告了一名患有复发性ARDS的骨髓增生异常综合征(MDS)病例,并讨论了遗传因素对复发性ARDS发病机制的贡献。该患者是一名66岁男性,因白细胞增多,贫血和血小板增多症而转诊至我们医院。通过骨髓检查,他被诊断出患有MDS,这表明骨髓细胞和巨核细胞增生异常。经过8个月的随访,他因感冒症状持续几天而出现低烧和呼吸困难,因此被送往我们的急诊室。他没有潜在的肺部疾病,例如慢性阻塞性肺疾病(COPD)。入院后(第1天),实验室数据显示白细胞(40.6 x 109 / L)和血小板减少(血小板31 x 109 / L)显着增加。胸部X线片显示双侧浸润,在24小时内明显进展(图1A)。胸部计算机断层扫描(CT)成像显示双侧肺野中有玻璃样混浊(图1A)。超声心动图检查未发现任何心力衰竭迹象。由于严重的低氧血症(PaO2为45.1 mm Hg,氧气供应为8 L),他接受了机械通气(FiO2 0.6; PaO2 98.0 mm Hg; PaO2 / FiO2 = 163.3)。

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