12例Birt-Hogg-Dubé综合征临床及影像学特征  

Clinical and imaging characteristics of 12 cases of Birt-Hogg-Dubésyndrome

作　　者：王鹏飞[1] 吴远宁 高婷婷[2] 徐广 夏巍 温鹏 马晴晴 曹丽丽 张锦涛 梁子婷 许长娟 高明霞[2] 董亮[1,2] WANG Pengfei;WU Yuanning;GAO Tingting;XU Guang;XIA Wei;WEN Peng;MA Qingqing;CAO Lili;ZHANG Jintao;LIANG Ziting;XU Changjuan;GAO Mingxia;DONG Liang(Department of Respiratory,Shandong Provincial Qianfoshan Hospital,Shandong University,Jinan 250014,Shandong,China;Department of Respiratory,The First Affiliated Hospital of Shandong First Medical University&Shandong Provincial Qianfoshan Hospital,Shandong Institute of Respiratory,Jinan 250014,Shandong,China;Department of Respiratory,People's Hospital of Wulian,Wulian 262300,Shandong,China;Department of Respiratory,Shandong Public Health Clinical Center,Jinan 250102,Shandong,China;Department of Respiratory,Linyi People's Hospital,Linyi 276034,Shandong,China)

机构地区：[1]山东大学,山东省千佛山医院呼吸与危重症医学科,山东济南250014 [2]山东第一医科大学第一附属医院(山东省千佛山医院)呼吸与危重症医学科,山东省呼吸疾病研究所,山东济南250014 [3]五莲县人民医院呼吸与危重症医学科,山东五莲262300 [4]山东省公共卫生临床中心呼吸与危重症医学科,山东济南250102 [5]临沂市人民医院呼吸与危重症医学科,山东临沂276034

出　　处：《山东大学学报（医学版）》2023年第6期53-57,共5页Journal of Shandong University:Health Sciences

基　　金：国家自然科学基金项目(82270032);山东省重点研发计划项目(2021SFGC0504);山东省自然科学基金联合基金项目(ZR2021LSW015);济南市科技创新发展资金项目(202132002)。

摘　　要：目的分析Birt-Hogg-Dubé(BHD)综合征临床及影像学特点,为临床及影像诊断提供帮助。方法回顾性分析2022年2月至8月于山东省千佛山医院由全外显子测序确诊的中国BHD综合征患者的临床资料,描述其临床及影像学特征。结果12例中国BHD综合征患者中男5例、女7例,8~66岁,8例有家族性气胸病史。最常见的临床表现是肺部囊肿,合并气胸8例,合并特征性皮肤改变1例。11例肺囊肿均为双侧及下肺分布为主,其中大量囊肿9例、中量囊肿2例;囊肿沿纵隔分布为主1例、周围分布为主4例、同时沿纵隔及周围分布6例。结论中国BHD综合征以单纯肺部受累为特点,其特征性肺部影像表现为沿下肺外周分布大小不等的含气囊泡。Objective To investigate the clinical and imaging characteristics of Birt-Hogg-Dubé(BHD)syndrome.Methods Clinical data of Chinese patients with BHD syndrome diagnosed with whole exon sequencing in Shandong Provincial Qianfoshan Hospital during Feb.2022 and Aug.2022 were retrospectively analyzed.The clinical and imaging characteristics were described.Results The 12 Chinese patients with BHD syndrome included 5 males and 7 females,aged from 8 to 66 years.Eight patients had a family history of pneumothorax.The most common clinical manifestations was pulmonary cysts.Eight cases were complicated with pneumothorax,and 1 with characteristic skin changes.In 11 cases,the lung cysts were distributed in bilateral and lower lungs,including 9 cases of massive cysts and 2 cases of moderate cysts.The cysts were mainly distributed along the mediastinum in 1 case,around the mediastinum in 4 cases,and along and around the mediastinum in 6 cases.Conclusion Chinese patients with BHD syndrome are characterized by simple lung involvement.The characteristic pulmonary imaging shows the distribution of air-containing vesicles of varying sizes along the periphery of the lower lung.

关 键 词：Birt-Hogg-Dubé综合征 肺囊性改变 气胸 促卵泡激素基因 全外显子测序 

分 类 号：R563.9[医药卫生—呼吸系统]