患儿男，12岁，反复肛周脓肿10年余，伴有反复口腔溃疡及手足关节变形，胃肠镜、胶囊内镜检查结果示消化道多发溃疡，结合组织病理等检查，诊断为克罗恩病。全外显子组测序及外周血染色体核型分析示染色体核型为47,XY,+8，予以升阶梯方案进行治疗，患儿临床症状得到控制，内镜下表现显著好转。该病例提示，极早发型炎症性肠病具有遗传易感性，当伴有其他多系统受累时，需考虑存在染色体异常的可能，如8号染色体三体，应引起重视。
Abstract
The patient is a 12-year-old male who has experienced recurrent perianal abscesses for over 10 years, along with recurrent oral ulcers and deformities in the joints of hands and feet. Gastrointestinal endoscopy and capsule endoscopy revealed multiple ulcers in the digestive tract. Combined with his histopathological examinations, the patient was diagnosed with Crohn's disease. Whole exome sequencing and peripheral blood karyotype analysis indicated a karyotype of 47,XY,+8. The patient was treated with a "step-up" strategy. His clinical symptoms were under control, with significant improvement observed during endoscopic examination. This case suggests that early-onset inflammatory bowel disease may have genetic susceptibility, and when accompanied by other multi-system involvement, the possibility of chromosomal abnormalities, such as trisomy 8, should be considered and given due attention.
关键词
克罗恩病 /
8号染色体三体 /
极早发型炎症性肠病 /
肛周脓肿 /
儿童
Key words
Crohn's disease /
Trisomy 8 /
Early-onset inflammatory bowel disease /
Perianal abscess /
Child
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