{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:09:22Z","timestamp":1753870162702,"version":"3.41.2"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T00:00:00Z","timestamp":1709769600000},"content-version":"vor","delay-in-days":6,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Respirology Case Reports"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Birt\u2013Hogg\u2013Dub\u00e9 syndrome (BHD) is an inherited autosomal dominant condition caused by germline mutations in the <jats:italic>FLCN<\/jats:italic> gene, mapped to chromosome 17p11.2. Typical manifestations include pulmonary cysts, spontaneous pneumothorax, fibrofolliculomas, and kidney neoplasms. This report details the case of a 56\u2010year\u2010old female non\u2010smoker diagnosed with multiple pulmonary cysts, presenting with a history of recurrent spontaneous pneumothorax. A computed tomography (CT) scan of her daughter revealed similar pulmonary cysts, raising suspicion of BHD. Further abdominal enhanced CT revealed a left renal tumour and cutaneous fibrofolliculomas on her daughter's neck. Consequently, whole\u2010exome sequencing confirmed an <jats:italic>FLCN<\/jats:italic> germline mutation in the patient and three relatives, establishing a diagnosis of BHD. This case highlights the importance of familial pulmonary cysts as a clue for diagnosing BHD, providing crucial insights into comparable clinical presentations.<\/jats:p>","DOI":"10.1002\/rcr2.1319","type":"journal-article","created":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T10:58:09Z","timestamp":1709809089000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Familial pulmonary cysts: A clue to diagnose Birt\u2013Hogg\u2013Dub\u00e9 syndrome: A case report and literature review"],"prefix":"10.1002","volume":"12","author":[{"given":"Jinrui","family":"Miao","sequence":"first","affiliation":[{"name":"Department of Pulmonary and Critical Care Medicine The Second Affiliated Hospital of Harbin Medical University, Harbin Medical University  Harbin China"},{"name":"National Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine China\u2010Japan Friendship Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Gao","sequence":"additional","affiliation":[{"name":"National Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine China\u2010Japan Friendship Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zilin","family":"Wang","sequence":"additional","affiliation":[{"name":"National Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine China\u2010Japan Friendship Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3438-1764","authenticated-orcid":false,"given":"Gang","family":"Hou","sequence":"additional","affiliation":[{"name":"National Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine China\u2010Japan Friendship Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,3,7]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(09)70188-3"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12931-016-0339-2"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.2147\/IJGM.S359660"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.05.006"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.21037\/atm-20-1129"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01848-8"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.3904\/kjim.2018.119"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1513\/AnnalsATS.201606-459OC"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chest.2016.04.026"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.3348\/kjr.2019.0057"},{"issue":"9","key":"e_1_2_9_12_1","first-page":"897","article-title":"Expert consensus on the diagnosis and management of Birt\u2010Hogg\u2010Dub\u00e9 syndrome","volume":"46","year":"2023","journal-title":"Zhonghua Jie He He Hu Xi Za Zhi"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200610-1483OC"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.054304"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0163-z"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-200212000-00002"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.2214\/AJR.17.18071"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(21)00228-9"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200409-1298OC"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0656-7"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chest.2019.12.019"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12807"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.118"},{"key":"e_1_2_9_24_1","unstructured":"SattlerEC FeldmanJ MirzaaGM et al. editors.GeneReviews\u00ae [Internet]. 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