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

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

PLOS ONE, 2023, vol. 18, issue 7, 1-16

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

Date: 2023
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Persistent link: https://EconPapers.repec.org/RePEc:plo:pone00:0289175

DOI: 10.1371/journal.pone.0289175

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