极早发型炎症性肠病患儿的临床特征及基因型特点分析  

Analysis of clinical and genotypic characteristics of very early onset infl ammatory bowel disease

作　　者：杨子章 赵瑞芹[1] 付海燕[1] 李桂桂 张梦月 Yang Zizhang;Zhao Ruiqin;Fu Haiyan;Li Guigui;Zhang Mengyue(Department of Gastroenterology,Hebei Children's Hospital,Shijiazhuang Hebei 050031,China)

机构地区：[1]河北省儿童医院消化内科,河北石家庄050031

出　　处：《中国医刊》2024年第11期1222-1228,共7页Chinese Journal of Medicine

基　　金：河北省卫生健康委2023年政府资助临床医学优秀人才培养项目(ZF2023211)。

摘　　要：目的分析极早发型炎症性肠病(VEO-IBD)患儿的临床特征及基因型特点。方法回顾性分析2016年1月至2024年2月河北省儿童医院的39例VEO-IBD患儿的临床资料。其中26例患儿进行了基因检测,根据检测结果将其分为单基因致病组(19例)和非单基因致病组(7例),比较两组患儿的临床特征。结果39例VEO-IBD患儿中,男23例,女16例,发病年龄12.0(7.0~36.0)月龄。临床表现以腹泻(66.67%)、便血(66.67%)最常见,结肠镜检查显示71.79%的患儿存在结肠溃疡、20.51%的患儿存在结肠和/或直肠炎、2.56%的患儿存在回肠末端溃疡并结肠炎、5.13%的患儿存在直肠溃疡。26例进行基因检测的患儿中19例(73.08%)为单基因突变,以IL10RA为主(7例)。与非单基因致病组相比,单基因致病组患儿发病年龄更早、发病年龄<2岁的比例更高、诱导缓解期治疗的有效率更低、药物难治和/或临床症状反复的发生率更高,差异均有统计学意义(P<0.05)。结论VEO-IBD的临床表现以腹泻和便血为主。单基因突变以IL10RA突变最为常见。单基因致病组患儿起病年龄早、常规治疗效果差、症状易反复。对于VEO-IBD患儿应尽早完善基因检测,提供精准的个体化治疗措施。Objective To analyze the clinical and genotypic features of very early onset inflammatory bowel disease(VEO-IBD).Method Retrospective analysis of clinical data of 39 children with VEO-IBD diagnosed at Hebei Children’s Hospital from January 2016 to February 2024.Among them,26 children underwent the next generation sequencing(NGS),and based on the results of NGS,the children were grouped to compare the clinical characteristics of VEO-IBD patients in the monogenic group(19 cases)and the non-monogenic group(7 cases).Result Among 39 children with VEO-IBD,there were 23 males and 16 females,with an onset age of 12.0(7.0-36.0)months.The most common clinical manifestations are diarrhea(66.67%)and rectal bleeding(66.67%).Under endoscopy,71.79%of patients have colon ulcers,20.51%have colon and/or proctitis,2.56%have terminal ileum ulcers with colitis,and 5.13%have rectal ulcers.Among the 26 children who underwent gene detection,19(73.08%)had pathogenic genetic mutations,mainly IL10RA(7 cases).Compared with the non-monogenic group,the monogenic group had earlier onset age,higher incidence of onset under 2 years old,lower efficacy of induced remission treatment,and higher incidence of drug resistance and/or clinical symptom recurrence,all of which were statistically significant(P<0.05).Conclusion The main clinical manifestations of VEO-IBD were diarrhea and hematochezia.IL10RA was the most common gene mutation.The monogenic group children had early onset age,poor treatment prognosis,and the clinical manifestations were recurrent.For VEO-IBD children,Gene mutation detection should be performed as soon as possible to provide accurate individualized treatment measures.

关 键 词：极早发型炎症性肠病 基因型 白介素-10受体 临床特征 

分 类 号：R725[医药卫生—儿科]