Journal of Chest Surgery

The Korean Society for Thoracic and Cardiovascular Surgery (대한심장혈관흉부외과학회)
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A Case of Primary Spontaneous Pneumothorax with a Three Nucleotide Deletion Mutation of the FLCN Gene

FLCN 유전자의 삼염기 결손 돌연변이를 동반한 일차성 자발성 기흉 1예

  • Park, Geon (Department of Laboratory Medicine, Chosun University School of Medicine) ;
  • Seo, Hong-Joo (Department of Thoracic and Cardiovascular Surgery, Chosun University School of Medicine) ;
  • Jang, Sook-Jin (Department of Laboratory Medicine, Chosun University School of Medicine) ;
  • Shin, Bong-Seok (Department of Dermatology, Chosun University School of Medicine) ;
  • Hong, Ran (Department of Pathology, Chosun University School of Medicine) ;
  • Lee, Seog-Ki (Department of Thoracic and Cardiovascular Surgery, Chosun University School of Medicine)
  • 박건 (조선대학교 의학전문대학원 진단검사의학교실) ;
  • 서홍주 (조선대학교 의학전문대학원 흉부외과학교실) ;
  • 장숙진 (조선대학교 의학전문대학원 진단검사의학교실) ;
  • 신봉석 (조선대학교 의학전문대학원 피부과학교실) ;
  • 홍란 (조선대학교 의학전문대학원 병리학교실) ;
  • 이석기 (조선대학교 의학전문대학원 흉부외과학교실)
  • Received : 2010.05.25
  • Accepted : 2010.08.17
  • Published : 2010.12.05
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Abstract

The cause of primary spontaneous pneumothorax (PSP) is obvious. Recently, the FLCN mutation was suggested to be a causal factor in PSP. A 47-year-old Korean male patient with chief complaint of repetitive PSP had numerous emphysematous bullae and multiple large cysts based upon high resolution computer tomography. Here we report a case of PSP with an FLCN c.468_470delTTC mutation.

일차성 자발성 기흉(primary spontaneous pneumothorax, PSP)의 원인은 명확하지 않다. 최근, FLCN 유전자의 돌연변이가 PSP의 한 원인인자으로 소개되고 있다. 반복적인 PSP를 주소로 한 47세 남성에서 고해상도 컴퓨터 단층 촬영 소견상 많은 폐기포와 다수의 큰 낭종과 함께 FLCN c.468_470 delTTC 돌연변이를 발견하여 문헌 고찰과 함께 보고하는 바이다.

Keywords

References

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  1. Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene vol.50, pp.5, 2017, https://doi.org/10.5090/kjtcs.2017.50.5.386