Korean J Gastrointest Endosc > Volume 41(6); 2010 > Article
Korean Journal of Gastrointestinal Endoscopy 2010;41(6): 360-363.
X 연관성 무감마글로불린혈증 환자에서 발생한 직장암 1예
전병준ㆍ김상욱*ㆍ고강석ㆍ김성훈*ㆍ김인희*ㆍ이승옥*ㆍ이수택*ㆍ김대곤*
전북대학교 의학전문대학원 내과학교실, *임상연구소
A Case of Rectal Cancer in a Patient with X-linked Agammagloubulinemia
Byung Jun Jeon, M.D., Sang Wook Kim, M.D.*, Kang Suk Ko, M.D., Seong Hun Kim, M.D.*, In Hee Kim, M.D.*, Seung Ok Lee, M.D.*, Soo Teik Lee, M.D.* and Dae Ghon Kim, M.D.*
Department of Internal Medicine, *The Research Institute of Clinical Medicine, Chonbuk National University Medical School, Jeonju, Korea
Abstract
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. (Korean J Gastrointest Endosc 2010;41:360-363)
Key Words: X-linked agammaglobulinemia, Rectal cancer
주요어: X연관 무감마글로불린혈증, 직장암
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