Ito Masashi, Morimoto Kozo, Hijikata Minako, Hasegawa Hirotsugu, Wakabayashi Keiko, Miyabayashi Akiko, Keicho Naoto
Respiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Tokyo, Japan.
Department of Clinical Mycobacteriosis, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Respir Med Case Rep. 2025 Apr 19;55:102214. doi: 10.1016/j.rmcr.2025.102214. eCollection 2025.
We report three cases of bronchiectasis caused by homozygous variants. The ages at diagnosis of bronchiectasis were 18, 24, and 16 years, and all patients had a history of chronic sinusitis since childhood. Despite low nasal nitric oxide levels, the radiologic features resembled those of cystic fibrosis, characterized by bronchiectasis predominantly in the upper lobes. All patients experienced frequent exacerbations and respiratory dysfunction, even with long-term macrolide therapy. Consequently, two of the three patients required lung transplantation. Considering the possibility of founder mutations, variants should be included in diagnostic panels for patients with sinopulmonary disease in Asian populations.
我们报告了三例由纯合变异引起的支气管扩张病例。支气管扩张的诊断年龄分别为18岁、24岁和16岁，所有患者自童年起就有慢性鼻窦炎病史。尽管鼻一氧化氮水平较低，但影像学特征类似于囊性纤维化，以上叶为主的支气管扩张为特征。即使进行长期大环内酯类治疗，所有患者仍频繁出现病情加重和呼吸功能障碍。因此，三名患者中有两名需要进行肺移植。考虑到存在奠基者突变的可能性，在亚洲人群中，对于患有鼻窦肺疾病的患者，变异应纳入诊断指标。
