Cited 21 times in
Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans
DC Field | Value | Language |
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dc.contributor.author | 김성한 | - |
dc.contributor.author | 박철환 | - |
dc.contributor.author | 박혜정 | - |
dc.contributor.author | 변민광 | - |
dc.contributor.author | 양서연 | - |
dc.contributor.author | 이경아 | - |
dc.contributor.author | 이근동 | - |
dc.contributor.author | 이상은 | - |
dc.contributor.author | 이성수 | - |
dc.contributor.author | 김태훈 | - |
dc.contributor.author | 김형중 | - |
dc.contributor.author | 안철민 | - |
dc.date.accessioned | 2017-11-01T09:06:11Z | - |
dc.date.available | 2017-11-01T09:06:11Z | - |
dc.date.issued | 2017 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/154019 | - |
dc.description.abstract | PURPOSE: Birt-Hogg-Dube syndrome (BHD) is a rare disorder caused by mutations in the gene that encodes folliculin (FLCN) and is inherited in an autosomal dominant manner. BHD is commonly accompanied by fibrofolliculomas, renal tumors, multiple pulmonary cysts, and spontaneous pneumothorax. The aim of this study was to detect BHD prospectively in patients undergoing chest computed tomography (CT) scans and to evaluate further the characteristics of BHD in Korea. METHODS: We prospectively checked and reviewed the chest CT scans obtained for 10,883 patients at Gangnam Severance Hospital, Seoul, Korea, from June 1, 2015 to May 31, 2016. Seventeen patients met the study inclusion criteria and underwent screening for FLCN mutation to confirm BHD. We analyzed the characteristics of the patients confirmed to have BHD and those for a further 6 patients who had previously been described in Korea. RESULTS: Six (0.06%) of the 10,883 patients reviewed were diagnosed with BHD. There was no difference in demographic or clinical features between the patients with BHD (n = 6) and those without BHD (n = 11). Pneumothorax was present in 50% of the patients with BHD but typical skin and renal lesions were absent. The maximum size of the cysts in the BHD group (median 39.4 mm; interquartile range [IQR] 11.4 mm) was significantly larger than that in the non-BHD group (median 15.8 mm; IQR 7.8 mm; P = 0.001). Variable morphology was seen in 100.0% of the cysts in the BHD group but in only 18.2% of the cysts in the non-BHD group (P = 0.002). Nine (95%) of the total of 12 Korean patients with BHD had experienced pneumothorax. Typical skin and renal lesions were present in 20.0% of patients with BHD. CONCLUSIONS: Our findings suggest that BHD can be detected if chest CT scans are read in detail. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.language | English | - |
dc.publisher | Public Library of Science | - |
dc.relation.isPartOf | PLOS ONE | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Birt-Hogg-Dube Syndrome/complications | - |
dc.subject.MESH | Birt-Hogg-Dube Syndrome/diagnosis* | - |
dc.subject.MESH | Birt-Hogg-Dube Syndrome/diagnostic imaging* | - |
dc.subject.MESH | Birt-Hogg-Dube Syndrome/genetics | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Middle Aged | - |
dc.subject.MESH | Pneumothorax/complications | - |
dc.subject.MESH | Pneumothorax/diagnosis* | - |
dc.subject.MESH | Pneumothorax/diagnostic imaging | - |
dc.subject.MESH | Prospective Studies | - |
dc.subject.MESH | Proto-Oncogene Proteins/genetics | - |
dc.subject.MESH | Republic of Korea | - |
dc.subject.MESH | Respiratory Function Tests | - |
dc.subject.MESH | Thorax/diagnostic imaging* | - |
dc.subject.MESH | Thorax/pathology | - |
dc.subject.MESH | Tomography, X-Ray Computed | - |
dc.subject.MESH | Tumor Suppressor Proteins/genetics | - |
dc.title | Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans | - |
dc.type | Article | - |
dc.publisher.location | United States | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Dept. of Internal Medicine | - |
dc.contributor.googleauthor | Hye Jung Park | - |
dc.contributor.googleauthor | Chul Hwan Park | - |
dc.contributor.googleauthor | Sang Eun Lee | - |
dc.contributor.googleauthor | Geun Dong Lee | - |
dc.contributor.googleauthor | Min Kwang Byun | - |
dc.contributor.googleauthor | Sungsoo Lee | - |
dc.contributor.googleauthor | Kyung-A Lee | - |
dc.contributor.googleauthor | Tae Hoon Kim | - |
dc.contributor.googleauthor | Seong Han Kim | - |
dc.contributor.googleauthor | Seo Yeon Yang | - |
dc.contributor.googleauthor | Hyung Jung Kim | - |
dc.contributor.googleauthor | Chul Min Ahn | - |
dc.identifier.doi | 10.1371/journal.pone.0170713 | - |
dc.contributor.localId | A01722 | - |
dc.contributor.localId | A01769 | - |
dc.contributor.localId | A01848 | - |
dc.contributor.localId | A02269 | - |
dc.contributor.localId | A04974 | - |
dc.contributor.localId | A02647 | - |
dc.contributor.localId | A04621 | - |
dc.contributor.localId | A02826 | - |
dc.contributor.localId | A02866 | - |
dc.contributor.localId | A01086 | - |
dc.contributor.localId | A01158 | - |
dc.contributor.localId | A04898 | - |
dc.relation.journalcode | J02540 | - |
dc.identifier.eissn | 1932-6203 | - |
dc.identifier.pmid | 28151982 | - |
dc.contributor.alternativeName | Kim, Seong Han | - |
dc.contributor.alternativeName | Park, Chul Hwan | - |
dc.contributor.alternativeName | Park, Hye Jung | - |
dc.contributor.alternativeName | Byun, Min Kwang | - |
dc.contributor.alternativeName | Ahn, Chul Min | - |
dc.contributor.alternativeName | Yang, Seo Yeon | - |
dc.contributor.alternativeName | Lee, Kyung A | - |
dc.contributor.alternativeName | Lee, Geun Dong | - |
dc.contributor.alternativeName | Lee, Sang Eun | - |
dc.contributor.alternativeName | Lee, Sung Soo | - |
dc.contributor.alternativeName | Kim, Tae Hoon | - |
dc.contributor.alternativeName | Kim, Hyung Jung | - |
dc.contributor.affiliatedAuthor | Park, Chul Hwan | - |
dc.contributor.affiliatedAuthor | Park, Hye Jung | - |
dc.contributor.affiliatedAuthor | Byun, Min Kwang | - |
dc.contributor.affiliatedAuthor | Ahn, Chul Min | - |
dc.contributor.affiliatedAuthor | Yang, Seo Yeon | - |
dc.contributor.affiliatedAuthor | Lee, Kyung A | - |
dc.contributor.affiliatedAuthor | Lee, Geun Dong | - |
dc.contributor.affiliatedAuthor | Lee, Sang Eun | - |
dc.contributor.affiliatedAuthor | Lee, Sung Soo | - |
dc.contributor.affiliatedAuthor | Kim, Tae Hoon | - |
dc.contributor.affiliatedAuthor | Kim, Hyung Jung | - |
dc.contributor.affiliatedAuthor | Kim, Seong Han | - |
dc.citation.title | PLoS One | - |
dc.citation.volume | 12 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | e0170713 | - |
dc.identifier.bibliographicCitation | PLOS ONE, Vol.12(2) : e0170713, 2017 | - |
dc.date.modified | 2017-11-01 | - |
dc.identifier.rimsid | 44185 | - |
dc.type.rims | ART | - |
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