{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T18:06:13Z","timestamp":1792692373987,"version":"4.5.0"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T00:00:00Z","timestamp":1699401600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:p>Birt-Hogg-Dub\u00e9 syndrome (BHDS) is a genetic disorder characterized by fibrofolliculomas, renal cell cancer and lung cysts. Patients are at risk to develop pneumothorax but the magnitude of this risk during pregnancy is unknown. Information was obtained from 46 women with BHDS that had at least one pregnancy (BHDS-with preg), 18 female BHDS relatives without pregnancies (BHDS-no preg) and 25 non-BHDS female relatives with at least one pregnancy (noBHDS-with preg). In total, 77 pneumothoraces occurred in the BHDS-with preg group (mean 1.7\/patient) and 11 in the BHDS-no preg group. Comparison of patient years for the first two groups showed pneumothorax incidence rates of 0.054 and 0.016, respectively. The incidence rate difference was significant [0.038 (CI 0.02\u20130.057), value of <jats:italic>p<\/jats:italic>-value 0.0001]. This difference is not caused by an increased number of patients with pneumothorax but by an increased number of pneumothoraces per patient. Pregnancy in BHDS therefore might be a risk factor for multiple pneumothoraces.<\/jats:p>","DOI":"10.3389\/fmed.2023.1289948","type":"journal-article","created":{"date-parts":[[2023,11,9]],"date-time":"2023-11-09T14:08:51Z","timestamp":1699538931000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Risk of pneumothorax in Birt-Hogg-Dub\u00e9 syndrome during pregnancy and birth"],"prefix":"10.3389","volume":"10","author":[{"given":"Ortrud K.","family":"Steinlein","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marlene","family":"Reithmair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zulfiya","family":"Syunyaeva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elke C.","family":"Sattler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,11,8]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1007\/s40257-017-0307-8","article-title":"Birt-Hogg-Dub\u00e9 syndrome: a review of dermatological manifestations and other symptoms","volume":"19","author":"Tong","year":"2018","journal-title":"Am J Clin Dermatol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"906","DOI":"10.1136\/jmg.39.12.906","article-title":"Clinical and genetic studies of Birt-hogg-Dub\u00e9 syndrome","volume":"39","author":"Khoo","year":"2002","journal-title":"J Med Genet"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"e0209504","DOI":"10.1371\/journal.pone.0209504","article-title":"Kidney cancer characteristics and genotype-phenotype-correlations in Birt-Hogg-Dub\u00e9 syndrome","volume":"13","author":"Sattler","year":"2018","journal-title":"PLoS One"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1513\/AnnalsATS.201611-886OC","article-title":"Spontaneous pneumothoraces in patients with Birt-Hogg-Dub\u00e9 syndrome","volume":"14","author":"Gupta","year":"2017","journal-title":"Ann Am Thorac Soc"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1378\/chest.08-3034","article-title":"Pneumothorax after air travel in lymphangioleiomyomatosis, idiopathic pulmonary fibrosis, and sarcoidosis","volume":"136","author":"Taveira-DaSilva","year":"2009","journal-title":"Chest"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1136\/thx.2006.058537","article-title":"Air travel in women with lymphangioleiomyomatosis","volume":"62","author":"Pollock-BarZiv","year":"2007","journal-title":"Thorax"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1016\/j.semcdb.2016.02.014","article-title":"Mechanisms of pulmonary cyst pathogenesis in Birt-Hogg-Dube syndrome: the stretch hypothesis","volume":"52","author":"Kennedy","year":"2016","journal-title":"Semin Cell Dev Biol"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"1248","DOI":"10.1111\/resp.12405","article-title":"The pathogenesis of pneumothorax in Birt-Hogg-Dube syndrome: a hypothesis","volume":"19","author":"Johannesma","year":"2014","journal-title":"Respirology"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"1199","DOI":"10.1016\/j.chest.2019.12.019","article-title":"Genetic risk factors for spontaneous pneumothorax in Birt-Hogg-Dube syndrome","volume":"157","author":"Sattler","year":"2020","journal-title":"Chest"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1513\/AnnalsATS.201606-459OC","article-title":"Chest computed tomographic image screening or cystic lung diseases in patients with spontaneous pneumothorax is cost effective","volume":"14","author":"Gupta","year":"2017","journal-title":"Ann Am Thorac Soc"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1111\/j.1399-0004.2008.01030.x","article-title":"Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax","volume":"74","author":"Ren","year":"2008","journal-title":"Clin Genet"},{"key":"ref12","volume-title":"Statistics in epidemiology: methods, techniques, and applications","author":"Sahai","year":"1996"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"739","DOI":"10.3238\/arztebl.2017.0739","article-title":"Spontaneous pneumothorax","volume":"114","author":"Schnell","year":"2017","journal-title":"Dtsch Arztebl Int"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"1471","DOI":"10.1001\/jama.2018.14299","article-title":"Trends in the incidence and recurrence of inpatient-treated spontaneous pneumothorax, 1968-2016","volume":"320","author":"Hallifax","year":"2018","journal-title":"JAMA"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"1441","DOI":"10.1001\/jama.2018.12878","article-title":"The evolving epidemiology and Management of Spontaneous Pneumothorax","volume":"320","author":"Savitsky","year":"2018","journal-title":"JAMA"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"1191","DOI":"10.1183\/09031936.00196914","article-title":"Prevalence of Birt-Hogg-Dub\u00e9 syndrome in patients with apparently primary spontaneous pneumothorax","volume":"45","author":"Johannesma","year":"2015","journal-title":"Eur Respir J"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1186\/s13023-020-01402-y","article-title":"Lung function in Birt-Hogg-Dube syndrome: a retrospective analysis of 96 patients","volume":"15","author":"Daccord","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"14960","DOI":"10.1073\/pnas.1309110110","article-title":"Integration of mTOR and estrogen-ERK2 signaling in lymphangioleiomyomatosis pathogenesis","volume":"110","author":"Gu","year":"2013","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"1802066","DOI":"10.1183\/13993003.02066-2018","article-title":"Analysis of the MILES cohort reveals determinants of disease progression and treatment response in lymphangioleiomyomatosis","volume":"53","author":"Gupta","year":"2019","journal-title":"Eur Respir J"}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2023.1289948\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,9]],"date-time":"2023-11-09T14:08:54Z","timestamp":1699538934000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2023.1289948\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,8]]},"references-count":19,"alternative-id":["10.3389\/fmed.2023.1289948"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2023.1289948","relation":{},"ISSN":["2296-858X"],"issn-type":[{"value":"2296-858X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,8]]},"article-number":"1289948"}}