Yuan Sai, Li Weiran, Hua Mao
Clinical Medical College of Qinghai University, Xining City, Qinghai Province, 810000, China.
Binhai County Hospital of Traditional Chinese Medicine, Yancheng City, Jiangsu Province, 224500, China.
BMC Pulm Med. 2025 Aug 14;25(1):392. doi: 10.1186/s12890-025-03866-9.
Tracheobronchomegaly, also known as Mounier-Kuhn syndrome (MKS), is a rare congenital condition characterized by significant dilation of the trachea and main bronchi along with an abnormal wall structure. Diagnosis can be confirmed through computed tomography, pulmonary function tests, and diagnostic bronchoscopy. Currently, there is no curative treatment for MKS; thus, symptomatic and supportive care remain the primary therapeutic approaches. Early diagnosis, effective infection control, and individualized management are crucial for improving patient outcomes.
This case report describes a middle-aged woman who presented with chronic cough, expectoration, and wheezing. She had been misdiagnosed with chronic obstructive pulmonary disease (COPD) at a local hospital for an extended period and was subsequently referred to our institution for fiberoptic bronchoscopy, which confirmed the diagnosis of MKS. By reviewing the literature via PubMed, we conducted a retrospective analysis of 29 previously reported cases of MKS, including the present case, totaling 30 cases (21 males and 9 females), predominantly middle-aged and elderly individuals.
Based on our literature review, the misdiagnosis rate of MKS remains high, often accompanied by significant diagnostic delays. Additionally, the proportion of secondary MKS cases has increased, challenging the traditional notion that MKS is exclusively congenital. Despite its rarity, clinicians should consider MKS in patients presenting with recurrent lower respiratory tract infections, abnormal tracheobronchial morphology., poor response to antibiotic therapy, or refractory COPD-like symptoms. Early imaging and bronchoscopic evaluations are essential to confirm the diagnosis and prevent delayed treatment.
气管支气管巨大症，也称为穆尼耶 - 库恩综合征（MKS），是一种罕见的先天性疾病，其特征为气管和主支气管显著扩张以及壁结构异常。可通过计算机断层扫描、肺功能测试和诊断性支气管镜检查确诊。目前，MKS尚无治愈性治疗方法；因此，对症和支持治疗仍是主要的治疗方法。早期诊断、有效的感染控制和个体化管理对于改善患者预后至关重要。
本病例报告描述了一名出现慢性咳嗽、咳痰和喘息症状的中年女性。她在当地医院被长期误诊为慢性阻塞性肺疾病（COPD），随后被转诊至我院进行纤维支气管镜检查，确诊为MKS。通过PubMed检索文献，我们对包括本病例在内的29例先前报道的MKS病例进行了回顾性分析，共计30例（男性21例，女性9例），主要为中年和老年个体。
基于我们的文献综述，MKS的误诊率仍然很高，常常伴有显著的诊断延迟。此外，继发性MKS病例的比例有所增加，这对MKS完全是先天性的传统观念提出了挑战。尽管MKS罕见，但临床医生对于出现反复下呼吸道感染、气管支气管形态异常、对抗生素治疗反应不佳或类似COPD难治性症状的患者应考虑到MKS。早期影像学和支气管镜评估对于确诊和防止治疗延迟至关重要。
