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Clinical and genetic features of 334 Asian patients with Birt–Hogg–Dubé syndrome (BHDS) who presented with pulmonary cysts with or without a history of pneumothorax, with special reference to BHDS-associated pneumothorax

Author

Listed:
  • Yukiko Namba
  • Hiroki Ebana
  • Shouichi Okamoto
  • Etsuko Kobayashi
  • Masatoshi Kurihara
  • Yasuhito Sekimoto
  • Kenji Tsuboshima
  • Makiko Kunogi Okura
  • Yoichiro Mitsuishi
  • Kazuhisa Takahashi
  • Kuniaki Seyama

Abstract

Background: The clinical pulmonary manifestations and genetic features of Birt–Hogg–Dubé syndrome (BHDS) in Asian patients remained unclear. We aimed to clarify the clinical features of BHDS-associated pneumothorax (PTX) and retrospectively investigate potential contributing factors in the largest Asian cohort to date. Methods: We reviewed the clinical and genetic data collected in 2006–2017, from the BHDS patients who were Asian and presented with pulmonary cysts with or without a history of PTX. Results: Data from 334 (41.3% males; 58.7% females) patients from 297 unrelated families were reviewed. Among them, 314 (94.0%) patients developed PTX. The median age at the first occurrence of PTX was 32 years, which was significantly lower in males (P = 0.003) and patients without notable skin manifestations (P

Suggested Citation

  • Yukiko Namba & Hiroki Ebana & Shouichi Okamoto & Etsuko Kobayashi & Masatoshi Kurihara & Yasuhito Sekimoto & Kenji Tsuboshima & Makiko Kunogi Okura & Yoichiro Mitsuishi & Kazuhisa Takahashi & Kuniaki , 2023. "Clinical and genetic features of 334 Asian patients with Birt–Hogg–Dubé syndrome (BHDS) who presented with pulmonary cysts with or without a history of pneumothorax, with special reference to BHDS-ass," PLOS ONE, Public Library of Science, vol. 18(7), pages 1-16, July.
    • Handle: RePEc:plo:pone00:0289175
    DOI: 10.1371/journal.pone.0289175
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