CAJ | 학술논문

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。
목적：탐토FLCN기인돌변상관여비상관폐대포자발성기흉적림상특정。방법：수집208례폐대포자발성기흉환자적림상자료급외주혈양본，균진행료FLCN기인돌변분석，안결과분성돌변조여무돌변조，대병인적림상특정화수술방식진행비교병진행통계학처리。결과：전조외주혈검측FLCN기인돌변양성병례위9.6%（20/208례），음성병례91.4%（188/208례），량조재년령、성별화흡연사무명현차이（P>0.05）；무돌변조환자폐대포적위치다위우폐상협（점98.6%，136/138례），이휴대FLCN기인돌변환자폐대포제상협외폐중하협역유명현루급（90.0%，18/20례，P=0.001）；본조170례행폐대포절제병흉막고정，FLCN기인돌변조적20례수술방식역균안상술방법（P=0.046）。결론：여상견폐대포병례불동적시FLCN상관적자발성기흉적폐대포재폐조직중분포엄범，우기상견우폐중하협，폐대포재불동폐협분포적차이특정가작위폐대포자발성기흉시부합병FLCN기인이상적감별진단지일；역가작위수술중우선채용폐대포절제병동시흉막고정술적이론의거。
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.