Mounier-Kuhn综合征三例报告并文献复习

The Mounier-Kuhn syndrome: three cases report and literature review

目的总结Mounier-Kuhn综合征(MKS)的病因和临床特征,提高对MKS的认知。方法报道四川大学华西医院确诊的3例MKS患者,并检索CNKI、维普、Pubmed数据库,筛出高质量MKS文章进行文献复习。结果共纳入214例MKS患者,其中我国目前仅14例。其病因不明,病理特征表现为气管、支气管的弹性组织缺如,胸部CT、纤维支气管镜检可见显著的气管支气管扩大征象。男女比为8.5︰1,临床表现无特异性,常合并遗传性缺陷疾病。目前尚无根治方法。结论 MKS是一种遗传学起源的罕见疾病,与吸烟史无关,可能与弹性组织解离综合征具有共同病因。临床工作中需重视皮肤、软组织方面的体格检查。诊断MKS除依据气道管径外,还需结合临床、病理、纤维支气管镜检查。

Objective To summarize the etiology and clinical features of Mounier-Kuhn syndrome （MKS） so as to enhance the acknowledgement of MKS. Methods Three cases of MKS were reported and the keywords with ＂ Tracheobronchomegaly”, ＂ Mounier-Kuhn syndrome” were analyzed through the mode of literature retrieval in CNKI, VIP and Pubmed databases. Results There were 214 cases around the world including 14 cases of MKS in China. With unknown etiology and non-specific clinical feature, MKS is characteristic with congenital absence of tracheal or bronchial elastic tissue. MKS is diagnosed with remarkably dilated trachea and bronchus through chest CT or bronchofibroscope, accompanied with genetic defects. The ratio of men to women is 8.5 to 1. There is no radical cure. Symptomatic treatment and surgical treatment when necessary could be available. Conclusions MKS is a rare progressive hereditary disease, irrelevant to smoking and sharing a similar cause with generalized elastolysis, which need pay much attention to the physical examination of skin or elastic tissue. The diagnosis of MKS should be based on not merely airway diameter but also the overall clinical, pathologic, and radiologic profile.