Cronkhite-Canada综合征一例  

One case of Cronkhite-Canada syndrome

作　　者：田玲琳[1] 姜丽君 殷云勤[1] 郭俊芝[1] Tian Linglin;Jiang Lijun;Yin Yunqin;Guo Junzhi(Department of Gastroenterology,the First Hospital,Shanxi Medical University,Taiyuan 030001,China)

机构地区：[1]山西医科大学第一医院消化内科,太原030001

出　　处：《中华炎性肠病杂志（中英文）》2022年第4期369-371,共3页Chinese Journal of Inflammatory Bowel Diseases

摘　　要：Cronkhite-Canada综合征(CCS)是一种罕见疾病,以弥漫性胃肠道息肉、毛发及指甲脱落和皮肤色素沉着为临床特征,发病机制不明。本文报道1例CCS患者,经糖皮质激素治疗有效,基因检测发现结肠腺瘤样息肉基因突变,以期为临床诊治提供参考。Cronkhite-Canada syndrome(CCS)is a rare disease characterized by diffuse gastrointestinal polyps,hair and nail loss and skin pigmentation.Its pathogenesis is unknown.This article reports a case of CCS,who was effectively treated with glucocorticoid and the gene mutation of colonic adenomatous polyp was detected by genetic testing,in order to provide reference for clinical diagnosis and treatment.

关 键 词：CRONKHITE-CANADA综合征 结肠腺瘤样息肉基因 基因变异 腹泻 内镜 糖皮质激素 

分 类 号：R596[医药卫生—内科学]