The Korean Journal of Medicine

The Korean Association of Internal Medicine (대한내과학회)
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A Case of Birt-Hogg-Dube Syndrome Diagnosed by a Folliculin Gene Mutation

Folliculin 유전자 변이로 진단된 Birt-Hogg-Dube 증후군 1예

  • Yoon, Seung-Bae (Department of Internal Medicine, The Catholic University of Korea School of Medicine) ;
  • Park, Chan-Kwon (Department of Internal Medicine, The Catholic University of Korea School of Medicine) ;
  • Kang, Min-Kyu (Department of Internal Medicine, The Catholic University of Korea School of Medicine) ;
  • Lee, Seok-Jong (Department of Internal Medicine, The Catholic University of Korea School of Medicine) ;
  • Han, Dae-Hee (Department of Radiology, The Catholic University of Korea School of Medicine) ;
  • Ki, Chang-Seok (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Young-Kyoon (Department of Internal Medicine, The Catholic University of Korea School of Medicine)
  • 윤승배 (가톨릭대학교 의과대학 내과학교실) ;
  • 박찬권 (가톨릭대학교 의과대학 내과학교실) ;
  • 강민규 (가톨릭대학교 의과대학 내과학교실) ;
  • 이석종 (가톨릭대학교 의과대학 내과학교실) ;
  • 한대희 (가톨릭대학교 의과대학 영상의학교실) ;
  • 기창석 (성균관대학교 의과대학 삼성서울병원 진단검사의학과) ;
  • 김영균 (가톨릭대학교 의과대학 내과학교실)
  • Published : 2011.07.01
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Abstract

Birt-Hogg-$Dub{\acute{e}}$ (BHD) syndrome is a rare, autosomal-dominant disorder that is caused by germ-line mutations in the folliculin gene. Clinically, BHD syndrome is characterized by cutaneous follicle tumors, pulmonary cysts, spontaneous pneumothorax, and an increased risk of renal cancer. A 65-year-old woman was admitted to Seoul St. Mary's Hospital to treat pneumonia, and we found that she had experienced recurrent spontaneous pneumothorax and had bilateral multiple pulmonary cysts with no history of smoking. Mutation analysis of the folliculin gene identified a novel mutation in exon 9 (c.997_998delTC; p.Ser333ArgfsX56). Except for the lung manifestation, no other features of BHD syndrome were detected in this case. Here, we report a case of BHD syndrome that manifested only as lung disease with a novel mutation.

저자 등은 폐렴으로 치료받은 65세 여자 환자에서 흡연력이 전혀 없음에도 자발성 기흉 기왕력과 양측성 다발성 폐낭종 소견이 관찰되어 BHD 증후군을 의심하였고 folliculin 유전자 변이 검사를 통하여 이를 확인하였다. 특징적인 피부병변 없이도 BHD 증후군의 발생 가능성이 있으므로 폐질환이 임상적으로 이 질환에 합당한 경우에는 folliculin 유전자변이 검사를 고려해 보아야 할 것으로 생각한다.

Keywords

References

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