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천식 치료 중 우연히 발견된 Birt-Hogg-Dube 증후군 1예

Other Titles
 Birt-Hogg-Dub? syndrome incidentally diagnosed during asthma management 
Authors
 김준호  ;  박경희  ;  김동현  ;  김영주  ;  박중원  ;  박혜정  ;  이진성  ;  최종락  ;  이재현 
Citation
 ALLERGY ASTHMA & RESPIRATORY DISEASE, Vol.3(3) : 232-235, 2015 
Journal Title
 ALLERGY ASTHMA & RESPIRATORY DISEASE 
ISSN
 2288-0402 
Issue Date
2015
Keywords
Birt-Hogg-Dubé syndrome ; Human FLCN protein ; Kidney neoplasms ; Asthma
Abstract
Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant hereditary disorder characterized by 3 clinical manifestations, including skin fibrofolliculomas, multiple pulmonary cysts with or without spontaneous pneumothorax, and spontaneous renal tumor. A 60-year-old Korean male who had suffered from bronchial asthma incidentally diagnosed with multiple pulmonary cysts by computed tomography during a regular follow-up. Genetic studies revealed folliculin gene mutation that was a confirmative finding of BHD syndrome. Although this case showed no cutaneous manifestations or renal abnormality, genetic studies of his family and regular follow-up are recommended.
Files in This Item:
T201504734.pdf Download
DOI
10.4168/aard.2015.3.3.232
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Dong Hyun(김동현)
Kim, Young Ju(김영주)
Kim, Junho(김준호)
Park, Kyung Hee(박경희) ORCID logo https://orcid.org/0000-0003-3605-5364
Park, Jung Won(박중원) ORCID logo https://orcid.org/0000-0003-0249-8749
Park, Hye Jung(박혜정) ORCID logo https://orcid.org/0000-0002-1862-1003
Lee, Jae Hyun(이재현) ORCID logo https://orcid.org/0000-0002-0760-0071
Lee, Jin Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/156823
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