单基因与非单基因早发型炎症性肠病的临床特征分析  

Clinical characteristics of monogenic and non-monogenic early-onset inflammatory bowel disease

作　　者：宫幼喆[1] 陈燕飞[1] 王福萍 王姣 孟莉 贺玺 钟雪梅[1] Gong Youzhe;Chen Yanfei;Wang Fuping;Wang Jiao;Meng Li;He Xi;Zhong Xuemei(Department of Gastroenterology,Children's Hospital Affilated to Capital Institute of Pediatrics,Beijing 100020,China)

机构地区：[1]首都儿科研究所附属儿童医院消化内科,北京100020

出　　处：《中华炎性肠病杂志(中英文)》2025年第2期143-148,共6页Chinese Journal of Inflammatory Bowel Diseases

基　　金：首都儿科研究所所级科研项目(LCYJ-2023-21)。

摘　　要：目的比较早发型炎症性肠病(EO-IBD)中单基因与非单基因患儿的临床特征。方法回顾性分析2017年1月至2023年12月期间首都儿科研究所附属儿童医院确诊的73例EO-IBD患儿的临床资料。使用二代基因测序技术进行基因分析,根据有无基因突变分为单基因组和非单基因组,并比较两组EO-IBD的临床特征。结果73例EO-IBD中,27例(37%)诊断为单基因IBD,46例(63%)为非单基因IBD。与非单基因组相比,单基因组发病年龄更小[1(0.2,3.0)个月比15(4.1,51.3)个月,P<0.001],出生后1个月内的发病比例更高(70.4%比13.0%,P<0.001),单基因组的CD表型(88.9%比52.2%,P=0.003)以及CD疾病部位为结肠型(L2)更多见(91.7%比62.5%,P<0.001),而表现为非穿透非狭窄型(B1)更少(87.5%比95.8%,P=0.019),单基因组患儿更易合并重度营养不良(74.1%比21.3%,P<0.001)、肛周脓肿(40.7%比8.7%,P<0.001)、肛周赘生物(22.2%比0%,P=0.004),更易出现发热(74.1%比23.9%,P<0.001)、口腔溃疡(44.4%比6.5%,P<0.001)、皮肤病变(33.3%比2.2%,P<0.001);治疗方面,与非单基因组相比,单基因组使用沙利度胺(88.9%比54.3%,P=0.002)和造血干细胞比例更高(37.0%比0%,P<0.001),单基因组患儿病死率更高(22.2%比2.2%,P=0.017)。结论对于发病年龄早,尤其1个月以内发病的IBD患儿,且合并发热、口腔溃疡、皮肤病变、重度营养不良、肛周疾病等表现,警惕单基因IBD可能,基因检测结果有助于制定治疗决策。Objective To compare the clinical characteristics of monogenic and non-monogenic early-onset inflammatory bowel disease(EO-IBD)in children and to explore the necessity of genetic analysis in EO-IBD research.Methods A retrospective analysis of clinical data was conducted on 73 children diagnosed with EO-IBD at the Children's Hospital affiliated with Capital Institute of Pediatrics between January 2017 and December 2023.Genetic analysis was performed utilizing next-generation sequencing technology,with patients stratified into monogenic and non-monogenic groups based on the presence or absence of pathogenic mutations.Subsequently,a comparative analysis of clinical characteristics was conducted between these two cohorts of EO-IBD patients.Results Among the 73 EO-IBD cases,27(37%)were diagnosed as monogenic IBD,and 46(63%)as non-monogenic IBD.Compared to the non-monogenic group,the monogenic group had an earlier age of onset[1(0.2,3.0)months vs.15(4.1,51.3)months,P<0.001],with a higher incidence within the first month of life(70.4%vs.13.0%,P<0.001).Monogenic IBD cases were more likely to present with Crohn's disease(CD)phenotypes(88.9%vs.52.2%,P=0.003)and colonic involvement(L2)(91.7%vs.62.5%,P<0.001),but were less likely to present with non-penetrating,non-stricturing(B1)disease(87.5%vs.95.8%,P=0.019).Children in the monogenic group were more prone to severe malnutrition(74.1%vs.21.3%,P<0.001),perianal abscesses(40.7%vs.8.7%,P<0.001),perianal tags(22.2%vs.0%,P=0.004),fever(74.1%vs.23.9%,P<0.001),oral ulcers(44.4%vs.6.5%,P<0.001),and skin lesions(33.3%vs.2.2%,P<0.001).Regarding treatment,the monogenic group had higher usage of thalidomide(88.9%vs.54.3%,P=0.002)and hematopoietic stem cell transplantation(HSCT)(37.0%vs.0,P<0.001)and a higher mortality rate(22.2%vs.2.2%,P=0.017).Conclusions For children with IBD presenting at an early age,especially within the first month of life,and showing symptoms like fever,oral ulcers,skin lesions,severe malnutrition,and perianal disease,monogenic IBD should be considered.Genetic t

关 键 词：炎症性肠病 儿童 早发型 基因 临床特征 二代基因测序 

分 类 号：R725.7[医药卫生—儿科]