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[由马尔凡综合征引起的支气管切除症患者的二次非结核性菌根菌感染]
1Department of Respiratory and Critical Care Medicine, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China.
概括
一名患有肺炎和支气管炎的年轻女性在基因检测显示FBN1基因突变后被诊断出患有马方综合征. 对Mycobacterium avium细胞内复合体 (MAC) 的治疗改善了她的症状和肺部成像.
科学领域:
- 肺部病理学 肺部病理学
- 遗传学 是一个遗传学.
- 传染性疾病 传染性疾病
背景情况:
- 支气管和肺部感染可以呈现出不同的病因.
- 细胞内复合的Mycobacterium avium (MAC) 是一种机会性病原体.
- 马方综合征是一种影响结合组织的遗传性疾病.
研究的目的:
- 报告患有未诊断的马凡氏综合征的患者感染Mycobacterium avium细胞内复合体 (MAC) 的病例.
- 突出基因检测在诊断带有呼吸道症状的结合组织疾病方面的重要性.
主要方法:
- 一个28岁的女性患有血,咳和唾液的病例报告.
- 胸部CT扫描用于成像发现.
- 支气管支气管洗 (BAL) 使用下一代测序 (NGS) 来识别病原体.
- 对FBN1基因突变进行基因检测.
- 心脏颜色超声波.
主要成果:
- 通过BALF的NGS诊断Mycobacterium avium细胞内复合体 (MAC) 感染.
- 胸部CT显示了支气管切除和胸膜加厚.
- 基因检测发现FBN1基因突变 (c.4349G>A).
- 心脏超声波显示大动脉鼻扩大.
- 患者在接受抗菌素治疗后显著改善.
结论:
- 这位患者被诊断出患有马尔凡综合征.
- 这一案例突显了马尔凡综合征与MAC等呼吸道感染之间的关联.
- 综合成像,微生物学和遗传学的综合诊断方法至关重要.
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