家族性自发性气胸8例临床分析并文献复习  

Clinical analysis of 8 cases of familial spontaneous pneumothorax and literatures review

作　　者：冯勇 李保庆[1] 曹富民[1] 刘俊峰[1] Feng Yong;Li Baoqing;Cao Fumin;Liu Junfeng(Department of Thoracic Surgery,Fourth Hospital of Hebei Medical University,Shijiazhuang 050011,China)

机构地区：[1]河北医科大学第四医院胸三科,石家庄050011

出　　处：《中华胸心血管外科杂志》2020年第8期486-488,共3页Chinese Journal of Thoracic and Cardiovascular Surgery

摘　　要：目的探讨家族性自发性气胸(FSP)的临床特点,分析其可能的发生原因.方法回顾分析8例FSP患者的详细临床资料,结合文献分析FSP的临床特点.结果76个家族共265例FSP患者,男女比例为1.55∶1,发病年龄>40岁者占48.30%.同代发病17.11%(13/76),两代发病67.10%(51/76),三代发病14.47%(11/76),四代发病1.31%(1/76),未发现隔代发病.先证者有FLCN基因突变.保守治疗、胸腔穿刺术、胸腔闭式引流术和手术治疗FSP的复发率分别为21.62%(8/37)、48.39%(30/62)、38.89%(35/90)、4.00%(4/100).结论与原发性自发性气胸散发病例相比,FSP男性发病高于女性,但女性发病率明显升高;气胸发病年龄较晚,多为两代发病,可能与遗传相关;手术治疗FSP效果最好.Objective To analyze the clinical characteristics and possible causes of lamilial spontaneous pneumothorax in combination with literatures.Methods The detailed clinical information of 8 cases of FSP were retrospectively reviewed,and the clinical characteristics of FSP were analyzed combined with literatures.Results Among 265 FSP patients in 76 families,the ratio of male to female is 1.55:1,age of onset over 40 years old was 48.30%,17.11%(13/76)of the cases occurred in the same generation,67.10%(51/76)in two generations,14.47%(11/76)in three generations and 1.31%(1/76)in four generations,and no intergenerational phenomenon was found.The proband had the mutation in the FLCN gene.The recurrence rates of observation,thoracentesis,chest tube drainage and operation were 21.62%(8/37),48.39%(30/62),38.89%(35/90)and 4.00%(4/100),respectively.Conclusion Compared with sporadic cases of PSP,the clinical characteristics of FSP are as follows,the incidence of pneumothorax in man is higher than women,but women is significantly higher,and the age of pneumothorax is later,most of them are two generations,which may be related to heredity.And the effect of surgical treatment is the best.

关 键 词：家族性自发性气胸 临床特点 遗传 

分 类 号：R655[医药卫生—外科学]