Chiner E, Blanquer R, Blanquer J, Pérez D, Muñoz J, Marín J
An Med Interna. 1989 Feb;6(2):86-8.
4 cases of spontaneous pneumothorax in 4 brothers, previously healthy with similar morphometric features and normal levels of alpha-1-antitrypsin, are presented. They all showed a tendency to relapse. The thoracoscopy carried out on one patient did show bullae and pleurodesis with tetracycline was non-effective. There were no functional alterations. We highlight the extremely rare occurrence of familial spontaneous pneumothorax. The literature is reviewed and genetic transmission mechanics is proposed, concluding that difficulties exist in identifying the non-symptomatic genetic carrier. We insist on the need to study family backgrounds in epidemiologic research.
本文报道了4例兄弟自发性气胸病例，他们既往健康，具有相似的形态特征且α-1抗胰蛋白酶水平正常。他们均有复发倾向。对其中1例患者进行的胸腔镜检查显示有肺大疱，且四环素胸膜固定术无效。未发现功能改变。我们强调家族性自发性气胸极为罕见。对相关文献进行了综述并提出了遗传传递机制，得出结论认为在识别无症状基因携带者方面存在困难。我们坚持在流行病学研究中需要研究家族背景。
