{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T06:10:11Z","timestamp":1756361411297,"version":"3.44.0"},"reference-count":14,"publisher":"BMJ","issue":"1","license":[{"start":{"date-parts":[[2025,1,21]],"date-time":"2025-01-21T00:00:00Z","timestamp":1737417600000},"content-version":"unspecified","delay-in-days":20,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Futian Healthcare Research Project","award":["FTWS2022019","No: FTWS2021055"],"award-info":[{"award-number":["FTWS2022019","No: FTWS2021055"]}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"crossref","award":["NO:2023A1515012987"],"award-info":[{"award-number":["NO:2023A1515012987"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Futian Healthcare Research Project","award":["FTWS2021004"],"award-info":[{"award-number":["FTWS2021004"]}]},{"name":"Shenzhen Science Technology Program","award":["JCYJ20210324115000002"],"award-info":[{"award-number":["JCYJ20210324115000002"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,12,30]]},"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>Birt-Hogg-Dub\u00e9 syndrome (BHDS) is a rare autosomal dominant genetic disorder. This case report aims to increase awareness of pulmonary cystic lesions and BHDS in China by providing insights into the clinical features of this syndrome. We present two cases of BHDS from the same family. We describe their clinical presentations, imaging findings, genetic mutations and the disease within their family tree. Two confirmed BHDS patients, initially presented with recurrent pneumothorax. No concurrent skin cystic changes but multiple lung cysts and <jats:italic>FLCN<\/jats:italic> gene mutation were found. Additionally, they have a family history of pneumothorax. Colorectal lesions are also noticed in their family. Remarkably, the younger sister also carried a mutation in the <jats:italic>MSH6<\/jats:italic> gene. For patients with lung cysts or pneumothorax on chest CT, it is advisable to trace the family history and remain vigilant for colorectal lesions.<\/jats:p>","DOI":"10.1136\/bcr-2024-262510","type":"journal-article","created":{"date-parts":[[2025,1,21]],"date-time":"2025-01-21T23:45:37Z","timestamp":1737503137000},"page":"e262510","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Familial analysis: pulmonary Birt-Hogg-Dub\u00e9 syndrome in two siblings"],"prefix":"10.1136","volume":"18","author":[{"given":"Xiaoxian","family":"Cui","sequence":"first","affiliation":[{"name":"Department of Respiratory and Critical Care Medicine, The Eighth Affiliated Hospital of Sun Yat-Sen University, Shenzhen, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiqiong","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Respiratory and Critical Care Medicine, The Eighth Affiliated Hospital of Sun Yat-Sen University, Shenzhen, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Respiratory and Critical Care Medicine, The Eighth Affiliated Hospital of Sun Yat-Sen University, Shenzhen, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianquan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Respiratory and Critical Care Medicine, The Eighth Affiliated Hospital of Sun Yat-Sen University, Shenzhen, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,1,21]]},"reference":[{"key":"2025082722460674000_18.1.e262510.1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.054304"},{"key":"2025082722460674000_18.1.e262510.2","doi-asserted-by":"crossref","DOI":"10.1183\/16000617.0042-2020","article-title":"Birt-Hogg-Dub\u00e9 syndrome","volume":"29","author":"Daccord","year":"2020","journal-title":"Eur Respir Rev"},{"key":"2025082722460674000_18.1.e262510.3","doi-asserted-by":"publisher","DOI":"10.1038\/nrurol.2015.206"},{"key":"2025082722460674000_18.1.e262510.4","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(09)70188-3"},{"key":"2025082722460674000_18.1.e262510.5","doi-asserted-by":"crossref","first-page":"22","DOI":"10.20517\/2574-1225.2023.28","article-title":"A rare cause of spontaneous pneumothorax: radiological findings and surgical approach","volume":"7","author":"Bonis","year":"2023","journal-title":"Mini-Invasive Surg"},{"key":"2025082722460674000_18.1.e262510.6","doi-asserted-by":"publisher","DOI":"10.1086\/430842"},{"key":"2025082722460674000_18.1.e262510.7","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21130"},{"key":"2025082722460674000_18.1.e262510.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2016.02.014"},{"key":"2025082722460674000_18.1.e262510.9","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz158"},{"key":"2025082722460674000_18.1.e262510.10","doi-asserted-by":"publisher","DOI":"10.1513\/AnnalsATS.201611-886OC"},{"key":"2025082722460674000_18.1.e262510.11","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200610-1483OC"},{"key":"2025082722460674000_18.1.e262510.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.chest.2019.12.019"},{"key":"2025082722460674000_18.1.e262510.13","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-020-01402-y","article-title":"Lung function in Birt-Hogg-Dub\u00e9 syndrome: a retrospective analysis of 96 patients","volume":"15","author":"Daccord","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"2025082722460674000_18.1.e262510.14","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.073304"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-262510","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T05:46:13Z","timestamp":1756359973000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-262510"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,1,21]]},"published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1136\/bcr-2024-262510"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-262510","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,1]]}}}