Journal of Shandong University (Health Sciences) ›› 2023, Vol. 61 ›› Issue (6): 53-57.doi: 10.6040/j.issn.1671-7554.0.2022.1267

• 临床医学 • Previous Articles    

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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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

CLC Number: 

  • R563.9
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