肺大疱自发性气胸合并FLCN基因突变的临床特征分析  

A comparative study of clinical characteristics of spontaneous pneumothorax with and without FLCN mutation

作　　者：曹磊[1,2] 邹卫[2] 潘宴青[2] 万明月[3] 丁一冰[1] 易龙[1] 

机构地区：[1]南京大学医学院江苏省医学分子技术重点实验室,南京210093 [2]南京市胸科医院胸心外科,南京210029 [3]南京市胸科医院病理科,南京210029

出　　处：《现代仪器与医疗》2014年第3期4-7,共4页Modern Instruments & Medical Treatment

基　　金：国家自然科学基金资助课题(No:81170002/H0102);南京市科委;南京市卫生局重点项目(ZKX11030)

摘　　要：目的 :探讨FLCN基因突变相关与非相关肺大疱自发性气胸的临床特征。方法 :收集208例肺大疱自发性气胸患者的临床资料及外周血样本,均进行了FLCN基因突变分析,按结果分成突变组与无突变组,对病人的临床特征和手术方式进行比较并进行统计学处理。结果:全组外周血检测FLCN基因突变阳性病例为9.6%(20/208例),阴性病例91.4%(188/208例),两组在年龄、性别和吸烟史无明显差异(P>0.05);无突变组患者肺大疱的位置多位于肺上叶(占98.6%,136/138例),而携带FLCN基因突变患者肺大疱除上叶外肺中下叶亦有明显累及(90.0%,18/20例,P=0.001);本组170例行肺大疱切除并胸膜固定,FLCN基因突变组的20例手术方式亦均按上述方法(P=0.046)。结论 :与常见肺大疱病例不同的是FLCN相关的自发性气胸的肺大疱在肺组织中分布广泛,尤其常见于肺中下叶,肺大疱在不同肺叶分布的差异特征可作为肺大疱自发性气胸是否合并FLCN基因异常的鉴别诊断之一;亦可作为手术中优先采用肺大疱切除并同时胸膜固定术的理论依据。Objective： The aim of this study is to investigate the clinical characteristics of spontaneous pneumothorax with and without FLCN gene mutation.Method： We investigated retrospectively clinical records from 208 patients with primary spontaneous pneumothorax, and their peripheral blood samples were collected to test for FLCN gene mutation. Two groups, patients with and without mutations, were analyzed by statistical methods.Result： 20/208 patients （9.6%） have a FLCN mutation by DNA sequence analysis. There were no signiifcant difference in ages, sex and smoking history between the FLCN gene mutation and the non-mutated group （P〉0.05）. Pulmonary cysts in non-mutation group （98.6%） are typically found in the apical zones, in contrast, the cysts in mutation group （90.0%） are most often located in the lower or basal lung regions（P=0.001）. 170 of 208 patients were treated with both bullectomy and pleurodesis. All patients with FLCN gene mutations had a bullectomy and pleurodesis, which were more frequently taken in mutation group （P=0.046）.Conclusion： The distribution of pulmonary cysts in patients with FLCN mutations is different from that in patients with non-mutations. The difference has a signiifcant diagnostic criterion for a pneumothorax with a FLCN mutation, and suggests that both bullectomy and pleurodesis would be preferential taken in patient with FLCN mutations.

关 键 词：自发性气胸 肺大疱 FLCN基因突变 肺大疱切除修补 胸膜固定术 

分 类 号：R65[医药卫生—外科学]