Clinical Endoscopy

  • 제41권6호
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  • Pages.360-363
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  • 2010
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  • 2234-2400(pISSN)
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  • 2234-2443(eISSN)
대한소화기내시경학회 (The Korean Society of Gastrointestinal Endoscopy)
권호 표지

X 연관성 무감마글로불린혈증 환자에서 발생한 직장암 1예

A Case of Rectal Cancer in a Patient with X-linked Agammagloubulinemia

  • 전병준 (전북대학교 의학전문대학원 내과학교실) ;
  • 김상욱 (전북대학교 의학전문대학원 임상연구소) ;
  • 고강석 (전북대학교 의학전문대학원 내과학교실) ;
  • 김성훈 (전북대학교 의학전문대학원 임상연구소) ;
  • 김인희 (전북대학교 의학전문대학원 임상연구소) ;
  • 이승옥 (전북대학교 의학전문대학원 임상연구소) ;
  • 이수택 (전북대학교 의학전문대학원 임상연구소) ;
  • 김대곤 (전북대학교 의학전문대학원 임상연구소)
  • Jeon, Byung-Jun (Department of Internal Medicine, Chonbuk National University Medical School) ;
  • Kim, Sang-Wook (The Research Institute of Clinical Medicine, Chonbuk National University Medical School) ;
  • Ko, Kang-Suk (Department of Internal Medicine, Chonbuk National University Medical School) ;
  • Kim, Seong-Hun (The Research Institute of Clinical Medicine, Chonbuk National University Medical School) ;
  • Kim, In-Hee (The Research Institute of Clinical Medicine, Chonbuk National University Medical School) ;
  • Lee, Seung-Ok (The Research Institute of Clinical Medicine, Chonbuk National University Medical School) ;
  • Lee, Soo-Teik (The Research Institute of Clinical Medicine, Chonbuk National University Medical School) ;
  • Kim, Dae-Ghon (The Research Institute of Clinical Medicine, Chonbuk National University Medical School)
  • 투고 : 2010.06.21
  • 심사 : 2010.10.21
  • 발행 : 2010.12.30
⟨ 이전 논문 다음 논문 ⟩

초록

X연관 무감마글로불린혈증(X-linked agammaglobulinemia)은 Bruton's tyrosine kinase (BTK) 유전자의 돌연변이에 의해 발생하는 드문 일차성 면역결핍 질환이다. X연관 무감마글로불린혈증 환자의 대부분은 반복적인 호흡기 및 위장관 감염을 겪게 되며, 여러 연구에서 림프종, 위암, 대장암 등 악성 종양의 발생빈도가 높음을 보고하였다. 저자들은 13세에 무감마글로불린혈증으로 진단되어 외래 추적관찰 하던 중 혈변을 주소로 대장내시경을 시행하여 중증도 분화도를 가진 선암종이 확인되어 전방 절제술을 시행한 32세 남자환자의 증례를 문헌고찰과 함께 보고한다.

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutation of the Bruton tyrosine kinase (BTK) gene. Most of the patients diagnosed X-LA suffer from recurrent infections of the respiratory and gastrointestinal tracts. Increased risk of malignancy in X-LA patients include lymphoma, gastric cancer, colorectal cancer. We report a case of 32-years-old male patient with X-linked agammagolbulinemia and rectal cancer. Agammaglobulinemia was diagnosed at 13 years old. He underwent colonoscopy for hematochezia. An ulceroinfiltrative mass was found during colonscopy and biopsy revealed moderately differentiated adenocarcinoma. Subsequently, he underwent a anterior resection.

키워드

참고문헌

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