家族性自发性气胸

定义 英文原文（暂无中文）

Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.

基本事实

遗传方式

常染色体显性

发病年龄

青少年期、成年期

患病率

1-5 / 10 000（Finland）

相关基因 1

临床表型 3

外部标识与链接