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山东大学学报 (医学版) ›› 2023, Vol. 61 ›› Issue (6): 53-57.doi: 10.6040/j.issn.1671-7554.0.2022.1267

• 临床医学 • 上一篇    

12例Birt-Hogg-Dubé综合征临床及影像学特征

王鹏飞1,吴远宁2,高婷婷2,徐广3,夏巍4,温鹏4,马晴晴4,曹丽丽5,张锦涛1,梁子婷1,许长娟1,高明霞2,董亮1,2   

  1. 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
  • 发布日期:2023-06-06
  • 通讯作者: 董亮. E-mail:dl5506@126.com
  • 基金资助:
    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)

Clinical and imaging characteristics of 12 cases of Birt-Hogg-Dubé syndrome

WANG Pengfei1, WU Yuanning2, GAO Tingting2, XU Guang3, XIA Wei4, WEN Peng4, MA Qingqing4, CAO Lili5, ZHANG Jintao1, LIANG Ziting1, XU Changjuan1, GAO Mingxia2, DONG Liang1,2   

  1. 1. Department of Respiratory, Shandong Provincial Qianfoshan Hospital, Shandong University, Jinan 250014, Shandong, China;
    2. Department of Respiratory, The First Affiliated Hospital of Shandong First Medical University &
    Shandong Provincial Qianfoshan Hospital, Shandong Institute of Respiratory, Jinan 250014, Shandong, China;
    3. Department of Respiratory, Peoples Hospital of Wulian, Wulian 262300, Shandong, China;
    4. Department of Respiratory, Shandong Public Health Clinical Center, Jinan 250102, Shandong, China;
    5. Department of Respiratory, Linyi Peoples Hospital, Linyi 276034, Shandong, China
  • Published:2023-06-06

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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。

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

Abstract: 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.

Key words: Birt-Hogg-Dubé syndrome, Cystic lung disease, Pneumothorax, Folliculin, Whole exon sequencing

中图分类号: 

  • R563.9
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