Zhan D T, Chen R C, Wang L W
Department of Respiratory and Critical Care Medicine, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University; the First Affiliated Hospital, Southern University of Science and Technology), Shenzhen Institute of Respiratory Diseases in Shenzhen People's Hospital,Shenzhen 518020,China.
Zhonghua Jie He He Hu Xi Za Zhi. 2022 Jan 12;45(1):59-63. doi: 10.3760/cma.j.cn112147-20210607-00402.
To improve the awareness of Birt-Hogg-Dubé syndrome. We performed a retrospective analysis with two families of Birt-Hogg-Dubé syndrome (BHD syndrome) diagnosed in Department of Respiratory and Critical Care Medicine, Shenzhen People's Hospital from 2020 to 2021. Clinical manifestations, imaging features, diagnosis and gene detection results were summarized. Relative literatures were reviewed in Wanfang Database and PubMed from 2015 to 2021 by using the search terms of "BHD syndrome" "Birt-Hogg-Dubé" "Birt-Hogg-Dubé syndrome", respectively. The probands of both families were female, aged 37 and 34 years respectively. The onset manifestation was pulmonary bullae combined with pneumothorax. Chest computed tomography (CT) imaging showed multiple pulmonary cysts in both lobes, and no skin lesions or renal tumors were found in either case. History of pneumothorax was present in Family 1 while absent in Family 2. The gene of the two probands and their relatives showed the same mutation site. Totally 12 Chinese literatures and 394 English literatures were retrieved, among which 96 reported lung involvement only. A total of 10 literatures about Chinese population were screened out from the English literatures, and 115 patients, 31 males and 84 females, were included. The incidence of spontaneous pneumothorax was 66.95% (77/115), while a family history of pneumothorax was 88.31%(68/77). The onset age of spontaneous pneumothorax was between 30 and 44 years. The most common mutation site of was c.1285dup. BHD syndrome in Asian population may only have lung involvement. Patients with pneumothorax and pulmonary cystic lesions should be inquired of the family history. We speculate that there are many underdiagnosed cases in clinical practice.
为提高对Birt-Hogg-Dubé综合征的认识。我们对2020年至2021年在深圳市人民医院呼吸与危重症医学科诊断的两例Birt-Hogg-Dubé综合征（BHD综合征）家系进行了回顾性分析。总结了临床表现、影像学特征、诊断及基因检测结果。分别以“BHD综合征”“Birt-Hogg-Dub锓Birt-Hogg-Dubé综合征”为检索词，在万方数据库和PubMed中检索2015年至2021年的相关文献。两个家系的先证者均为女性，年龄分别为37岁和34岁。起病表现为肺大疱合并气胸。胸部计算机断层扫描（CT）成像显示两肺叶均有多个肺囊肿，两例均未发现皮肤病变或肾肿瘤。家系1有气胸病史，家系2无气胸病史。两位先证者及其亲属的基因显示相同的突变位点。共检索到12篇中文文献和394篇英文文献，其中96篇仅报道了肺部受累情况。从英文文献中筛选出10篇关于中国人群的文献，纳入115例患者，其中男性31例，女性84例。自发性气胸的发生率为66.95%（77/115），气胸家族史的发生率为88.31%（68/77）。自发性气胸的发病年龄在30至44岁之间。最常见的突变位点为c.1285dup。亚洲人群中的BHD综合征可能仅累及肺部。对于气胸和肺囊性病变患者，应询问家族史。我们推测临床实践中存在许多漏诊病例。
