Mounier-Kuhn综合征三例报告并文献复习.PDF

• 272 • Chinese Journal of Respiratory and Critical Care Medicine, Mar. 2017, Vol. 16, No.3   ·论　　著· Mounier-Kuhn 综合征三例报告并文献复习 张艺，杨小东，陈旭萍，周振兴，成小亮 四川大学华西医院呼吸与危重症医学科（四川成都  610041 ） 【摘要】   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。 【关键词】  Mounier-Kuhn 综合征；病因；诊断；文献复习 The Mounier-Kuhn syndrome: three cases report and literature review ZHANG Yi, YANG Xiaodong, CHEN Xuping, ZHOU Zhenxing, CHEN Xiaoliang Department of Respiratory and Critical Care Medicine, West China Hospital of Sichuan University Sichuan, Chengdu, Sichuan 610041, P.R.China Corresponding author: YANG Xiaodong, Email: yang-xiaodong@163.com 【Abstract 】 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 our country. 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. 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