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 FBN1 gene (c.4349G>A). Based on these results, she was diagnosed with Marfan syndrome.
本文报道1例28岁女性患者，临床以间断咯血、咳嗽、咳痰起病。实验室检查未见血象及炎症指标的升高，痰病原学无阳性发现。胸部影像学示右肺中叶及下叶支气管扩张伴感染，右侧胸膜增厚。右下叶背段于支气管镜下行肺泡灌洗，支气管肺泡灌洗液二代测序提示鸟胞内分枝杆菌。抗分枝杆菌治疗后患者症状较前好转，影像学可见炎症范围较前缩小。进一步寻找支气管扩张原因，患者体型高瘦，四肢细长，心脏彩超提示主动脉窦增宽，完善外周血基因检测发现FBN1基因变异，变异位点为c.4349G>A，综上考虑马凡综合征。.