대한영상의학회지 (Journal of the Korean Society of Radiology)

  • 제84권6호
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  • Pages.1257-1265
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  • 2023
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  • 1738-2637(pISSN)
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  • 2951-0805(eISSN)
대한영상의학회 (The Korean Society of Radiology)
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한국인 소아에서의 낭포성 섬유증의 임상 및 영상 소견

Clinical and Imaging Features of Cystic Fibrosis in Korean Children

  • 권용재 (성균관대학교 의과대학 삼성서울병원 영상의학과) ;
  • 유소영 (성균관대학교 의과대학 삼성서울병원 영상의학과) ;
  • 전태연 (성균관대학교 의과대학 삼성서울병원 영상의학과) ;
  • 김지혜 (성균관대학교 의과대학 삼성서울병원 영상의학과) ;
  • 박지은 (성균관대학교 의과대학 삼성서울병원 영상의학과)
  • Yong Jae Kwon (Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • So-Young Yoo (Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Tae Yeon Jeon (Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Ji Hye Kim (Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Ji Eun Park (Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 투고 : 2023.06.16
  • 심사 : 2023.08.21
  • 발행 : 2023.11.01
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초록

낭포성 섬유증(cystic fibrosis)은 주로 백인에게 영향을 미치는 치명적인 유전 질환으로 한국을 포함한 아시아 인구에서는 드물다. 낭포성 섬유증의 진단은 질환의 희소성과 비 낭포성 섬유증과의 중복되는 특징으로 인해 종종 어렵고 지연되어 궁극적으로 환자 예후에 영향을 주게 된다. 영상의학과 의사는 임상적으로 의심되지 않는 경우에도 초기 단서를 제공할 수 있으며 조기 진단을 확립하는 데 중요한 역할을 한다. 본 임상화보는 국내 소아에서 유전적으로 확인된 낭포성 섬유증의 임상 및 영상 의학적 특징에 대해 알아보고 이 희귀 질환의 인식을 높여서 조기에 진단하는 데 도움을 주고자 한다.

Cystic fibrosis (CF) is a fatal hereditary disorder that primarily affects Caucasians and is rare in Asian populations, including Koreans. Diagnosing CF is often challenging and delayed owing to its rarity and its overlapping features with non-CF diseases, ultimately affecting the patient prognosis. Radiologists can provide initial clues for clinically unsuspected cases and play a crucial role in establishing an early childhood diagnosis. This pictorial essay reviews the clinical and imaging features of genetically confirmed CF in Korean children and increases awareness of this rare disease, thereby facilitating early diagnosis.

키워드

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