Li J, Chen X T, Gao Y L, Wang H J, Gu L, Fang Q H, Bu X N
Department of Respiratory and Critical Care Medicine, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China.
Department of Respiratory and Critical Care Medicine, Beijing Chaoyang Hospital, Capital Medical University, Beijing 100020, China.
Zhonghua Jie He He Hu Xi Za Zhi. 2024 Jan 12;47(1):31-35. doi: 10.3760/cma.j.cn112147-20230928-00203.
In this article, we reported a 28-year-old female patient who presented with intermittent hemoptysis, cough, and sputum production. Laboratory tests showed no abnormalities in the blood counts or inflammatory markers, and the sputum cultures were negative. A chest computed tomography scan showed bronchiectasis associated with infection in the middle and lower lobes of the right lung and right pleural thickening. We performed bronchoalveolar lavage by bronchoscopy in the dorsal segment of the right lower lobe and found Mycobacterium avium intracellulare complex (MAC) by Next Generation Sequencing (NGS) of bronchoalveolar lavage fluid (BALF). The patient's symptoms improved significantly after anti-mycobacterium treatment and the extent of infection was reduced on imaging. To further identify the cause of bronchiectasis, the patient is tall and thin, with slender limbs. Cardiac color ultrasound showed the widening of aortic sinus. Her genetic testing of blood samples revealed the gene mutation in the ene (c.4349G>A). Based on these results, she was diagnosed with Marfan syndrome.
在本文中,我们报告了一名28岁的女性患者,她出现间歇性咯血、咳嗽和咳痰症状。实验室检查显示血细胞计数和炎症标志物无异常,痰培养结果为阴性。胸部计算机断层扫描显示右肺中叶和下叶支气管扩张伴感染以及右胸膜增厚。我们通过支气管镜在右下叶背段进行了支气管肺泡灌洗,并通过对支气管肺泡灌洗液(BALF)进行下一代测序(NGS)发现了鸟分枝杆菌胞内复合体(MAC)。抗分枝杆菌治疗后患者症状明显改善,影像学上感染范围缩小。为进一步明确支气管扩张的病因,患者身材高挑且消瘦,四肢细长。心脏彩色超声显示主动脉窦增宽。对其血液样本进行的基因检测发现了ene基因(c.4349G>A)突变。基于这些结果,她被诊断为马方综合征。