背景:8三体综合征患者始终存在髓样肿瘤和/或自身炎症综合征。骨髓增生异常综合征(MDS)与8-三体(8-MDS)和炎症性疾病之间的可能联系已得到公认,报告了几例。然而,无MDS患者的炎症性疾病在很大程度上被忽视了.一般来说,Behçet病是8-MDS中最常见的类型。然而,肺部受累的炎症性疾病不太常见,没有建立有效的治疗方法。
方法:一名27岁男子反复发烧,疲劳>2个月,我们的急诊科暂时诊断为严重肺炎,昏迷了1天。给予万古霉素和亚胺培南并收集痰用于宏基因组下一代测序。检测到EB病毒和kansasii分枝杆菌。此外,染色体分析显示8号染色体重复。两天后,使用血液培养进行重复宏基因组下一代测序.葡萄牙冬虫夏草,M.kansasii,检测到葡萄牙念珠菌,并证实了8号染色体上的重复。怀疑血液病,我们从髂棘抽取了骨髓样本,检查显示有感染迹象。我们加入氟康唑作为进一步的抗生素治疗。七天后,病人的病情没有好转,提示添加甲基强的松龙作为抗炎药。幸运的是,这种治疗是有效的,患者最终康复。
结论:严重的炎症性疾病合并肺部受累可发生在8号三体患者中。甲基强的松龙可能是一种有效的治疗方法。
BACKGROUND: Patients with trisomy 8 consistently present with myeloid neoplasms and/or auto-inflammatory syndrome. A possible link between myelodysplastic syndromes (MDS) with trisomy 8 (+8-MDS) and inflammatory disorders is well recognized, several cases having been reported. However, inflammatory disorders in patients without MDS have been largely overlooked. Generally, Behçet\'s disease is the most common type in +8-MDS. However, inflammatory disorders with pulmonary involvement are less frequent, and no effective treatment has been established.
METHODS: A 27-year-old man with recurrent fever, fatigue for > 2 mo, and unconsciousness for 1 day was admitted to our emergency department with a provisional diagnosis of severe pneumonia. Vancomycin and imipenem were administered and sputum collected for metagenomic next-generation sequencing. Epstein-Barr virus and Mycobacterium kansasii were detected. Additionally, chromosomal analysis showed duplications on chromosome 8. Two days later, repeat metagenomic next-generation sequencing was performed with blood culture. Cordyceps portugal, M. kansasii, and Candida portugal were detected, and duplications on chromosome 8 confirmed. Suspecting hematological disease, we aspirated a bone marrow sample from the iliac spine, examination of which showed evidence of infection. We added fluconazole as further antibiotic therapy. Seven days later, the patient\'s condition had not improved, prompting addition of methylprednisolone as an anti-inflammatory agent. Fortunately, this treatment was effective and the patient eventually recovered.
CONCLUSIONS: Severe inflammatory disorders with pulmonary involvement can occur in patients with trisomy 8. Methylprednisolone may be an effective treatment.