婴儿型炎症性肠病临床特征及基因分析
Analysis of clinical features and genotype of 6 infantile-onset inflammatory bowel disease
李晓雷 1赵雅男 2付海燕 2白革兰 2赵世光 2赵瑞芹2
作者信息
- 1. 陆军军医大学士官学校,河北石家庄 050081
- 2. 河北省儿童医院,河北石家庄 050031
- 折叠
摘要
[目的]总结婴儿型炎症性肠病(IO-IBD)患儿的临床和遗传学特征.[方法]收集确诊的IO-IBD患儿,6例(男5例,女1例),回顾性总结患儿临床资料,完善结肠镜、病理及基因检查.[结果]6例患儿中,克罗恩病5例,溃疡性结肠炎1例;起病中位年龄7.9(0.5～22.0)个月龄,其中3个月龄内起病患儿4例.临床症状以腹泻(6/6例,100％)、便血(4/6例,66.7％)、发热(4/6例,66.7％)为主,肠外表现以肛周病变最常见,其中肛周脓肿3例,肛瘘1例.5例克罗恩病患儿病变部位3例为L2型,2例为L2+L4型,疾病行为以非狭窄非穿透(B1)型为主(4/5例,80％);1例溃疡性结肠炎患儿病变范围为左半结肠(E2)型.6例IO-IBD中仅1例获得临床缓解,1例部分缓解,2例未缓解,2例死亡.6例IO-IBD患儿行基因检测,均存在单基因突变,其中4例为IL-10 RA基因突变,1例为XIAP基因变异,另1例为CYBB基因变异.[结论]IO-IBD患儿的单基因突变阳性率较高,IL-10 RA基因突变最为常见,具有起病年龄早、临床症状重、易合并肛周病变及临床缓解率低特点.
Abstract
[Objective]To summarize clinical and genetic features of infantile-onset inflammatory bowel disease(IO-IBD)patients..[Methods]Total 6 cases of IO-IBD patients,in which 5 cases were male,1 case was female,were enrolled and the clinical data of the children,improvement of the colonoscopy,pathologic examination and gene were retrospectively analyzed.[Results]Among the 6 children with IO-IBD,5 had Crohn's disease(CD)and 1 had ulcerative colitis(UC).The median age of onset was 7.9(0.5-22.0)months,of which 4 cases had onset within 3 months.The main clinical symptoms were diarrhea(6/6 cases,100％),hematochezia(4/6 cases,66.7％)and fever(4/6 cases,66.7％).The most common extraintestinal manifestations were perianal lesions,including 3 cases of perianal abscess and 1 case of anal fistula.Among the 5 children with CD,3 cases were L2 type,2 cases were L2+L4 type,and the disease behavior was main-ly non-stenosis and non-penetration(B1)type(4/5 cases,80％).One child with UC had E2 type lesions in the left colon.Of the 6 patients with IO-IBD,only 1 achieved clinical remission,1 partial remission,2 no re-mission,and 2 died.Genetic testing was performed in 6 children with IO-IBD,and single gene mutation was found in all of them,including 4 cases of IL-10 RA gene mutation,1 case of XIAP gene mutation,and 1 case of CYBB gene mutation.[Conclusion]The positive rate of single gene mutation was higher in children with IO-IBD,and il-10 RA gene mutation was the most common,which was characterized by early onset age,se-vere clinical symptoms,easy perianal lesions and low clinical remission rate.
关键词
炎症性肠病/婴儿型/白细胞介素-10受体Key words
extremely early inflammatory bowel disease/infantile-onset/interleukin-10 receptor引用本文复制引用
出版年
2024
NETL
NSTL
万方数据