Wang Yanjie, Wang Luyao, Zhang Haoxiang, Zhu Xiaojia, Shi Xiaoxi, Fu Sirui, Sun Kai, Wang Jiao, Ren Quanwei, Ji Yongjin, Zhao Changqing
Department of Otolaryngology Head and Neck Surgery, Second Hospital of Shanxi Medical University, 382 Wuyi Road, Taiyuan, 030000, Shanxi Province, China.
Key Research Laboratory of Airway Neuroimmunology in Shanxi Province, Taiyuan, China.
Orphanet J Rare Dis. 2025 May 19;20(1):238. doi: 10.1186/s13023-025-03745-w.
Mounier-Kuhn syndrome (MKS) is characterized by tracheobronchomegaly with thinning or atrophy of the elastic tissue. Due to low clinical awareness, MKS is frequently overlooked on chest CT examinations, leading to diagnostic delays. This study aimed to synthesize the historical context and contemporary advancements in MKS research.
Five MKS cases were retrospectively identified through thoracic imaging review at our institution. A systematic review adhering to PRISMA guidelines was conducted across Web of Science (WOS) and China-specific databases (China National Knowledge Infrastructure [CNKI], Wanfang) from January 2000 to March 2025 to identify studies reporting CT-confirmed tracheobronchial dilation, to address geographic bias. Concurrently, a bibliometric analysis of WOS publications spanning January 1962 to March 2025 was performed using predefined inclusion criteria to analyze historical research trends through VOSviewer.
Our institutional cohort (5 patients: 4 males) exhibited marked tracheobronchial dilation, with two representative cases demonstrating distinct clinical trajectories of disease progression. Systematic analysis of 147 publications encompassing 169 radiologically confirmed cases revealed significant male predominance (male-to-female ratio: 5.5:1), a mean tracheal diameter of 34.3 ± 6.1 mm, a median diagnostic delay of 3.0 years (IQR: 0.25-20.0 years), and high comorbidity prevalence including bronchiectasis (71.6%) and tracheal diverticulosis (67.5%). The most frequent clinical manifestations were cough (64.5%), dyspnoea (52.7%), and recurrent respiratory infections (57.4%). Bibliometric analysis of 288 global publications characterized research trends through country/institutional affiliations, author collaborations, journal distributions, and keyword co-occurrence, with diagnostic imaging advancements dominating recent scholarly output.
This three-phase analytical approach bridges clinical observations with global research trends, revealing significant diagnostic delays and evolving imaging paradigms in MKS management. Our findings underscore the need for enhanced clinical vigilance and multinational collaborative research initiatives to establish evidence-based therapeutic frameworks for this under-diagnosed condition.
穆尼耶-库恩综合征（MKS）的特征是气管支气管扩大，伴有弹性组织变薄或萎缩。由于临床认识不足，MKS在胸部CT检查中经常被忽视，导致诊断延迟。本研究旨在综合MKS研究的历史背景和当代进展。
通过对本机构的胸部影像学检查进行回顾性分析，确定了5例MKS病例。从2000年1月至2025年3月，在Web of Science（WOS）和中国特定数据库（中国知网[CNKI]、万方）中按照PRISMA指南进行了系统评价，以识别报告CT确诊气管支气管扩张的研究，以解决地域偏差问题。同时，使用预定义的纳入标准对1962年1月至2025年3月期间WOS发表的文献进行文献计量分析，通过VOSviewer分析历史研究趋势。
我们机构的队列（5例患者：4例男性）表现出明显的气管支气管扩张，其中两例代表性病例展示了疾病进展的不同临床轨迹。对147篇包含169例经放射学确诊病例的文献进行系统分析发现，男性占主导地位（男女比例为5.5:1），平均气管直径为34.3±6.1毫米，中位诊断延迟为3.0年（四分位间距：0.25 - 20.0年），合并症患病率高，包括支气管扩张（71.6%）和气管憩室病（67.5%）。最常见的临床表现为咳嗽（64.5%）、呼吸困难（52.7%）和反复呼吸道感染（57.4%）。对288篇全球文献的文献计量分析通过国家/机构隶属关系、作者合作、期刊分布和关键词共现来表征研究趋势，诊断成像进展主导了近期学术成果。
这种三阶段分析方法将临床观察与全球研究趋势联系起来，揭示了MKS管理中显著的诊断延迟和不断演变的成像模式。我们的研究结果强调需要加强临床警惕性和开展跨国合作研究倡议，为这种诊断不足的疾病建立循证治疗框架。
