Bense Làszlò, Eklund Gunnar, Lewander Rolf
Chest. 2002 Jan;121(1):297-300. doi: 10.1378/chest.121.1.297.
To further elucidate the etiology of spontaneous pneumothorax (SP), a study was made of three nonsmoking patients who had experienced several episodes of chest radiograph-verified familial SP (FSP) and 11 unaffected relatives, 5 of whom were smokers and 6 of whom were never-smokers. Fourteen healthy subjects without SP served as a control group. All three groups underwent the same clinical, laboratory, and radiologic examinations, including CT scans of the lungs, with the aim of detecting any changes in the pulmonary parenchyma. Emphysema-like changes (ELCs) were detected on CT scans in each of the three patients with FSP. The unaffected relatives of the FSP patients showed no sign of FSP, but four of the six never-smokers and three of the five relatives who were smokers displayed pulmonary emphysema and ELCs on CT scans. No abnormalities were seen on pulmonary CT scans of the 14 control subjects. The present results indicate that ELCs and pulmonary emphysema may be genetically determined.
为进一步阐明特发性气胸（SP）的病因，对3例非吸烟患者及11名未患病亲属进行了研究，这3例非吸烟患者曾多次出现经胸部X线证实的家族性气胸（FSP），11名未患病亲属中，5名吸烟，6名从不吸烟。选取14名无气胸的健康受试者作为对照组。所有三组均接受相同的临床、实验室和放射学检查，包括肺部CT扫描，目的是检测肺实质的任何变化。3例FSP患者的CT扫描均发现了类肺气肿改变（ELC）。FSP患者的未患病亲属未显示FSP迹象，但6名从不吸烟的亲属中有4名以及5名吸烟亲属中有3名在CT扫描中显示有肺气肿和ELC。14名对照受试者的肺部CT扫描未见异常。目前的结果表明，ELC和肺气肿可能由基因决定。
