极早发型炎性肠病的诊断及治疗策略  

Diagnosis and treatment strategy of very early-onset infla-mmatory bowel disease

作　　者：黄瑛 叶孜清 HUANG Ying;YE Zi-qing(Department of Gastroenterology Pediatric Hospital,Fudan University,Shanghai 201102,China)

机构地区：[1]复旦大学附属儿科医院消化科,上海201102

出　　处：《中国实用儿科杂志》2023年第4期254-258,共5页Chinese Journal of Practical Pediatrics

摘　　要：极早发型炎性肠病(very early-onset inflammatory bowel disease,VEO-IBD)患儿发病早、环境暴露时间有限、具有较强家族史,且多由于单基因缺陷所导致。该病与儿童及青少年IBD发病机制、疾病自然病程不同,VEO-IBD患儿临床症状重,以炎性反应为主,多表现为广泛性结肠病变,伴发严重全身表现,具有较高的病死率。针对VEOIBD,需要尽早开展精准诊断及治疗策略,以改善患儿治疗结局及预后。Patients with very early-onset inflammatory bowel disease(VEO-IBD)have early disease onset,limited environ-mental exposure,and strong family history.Most cases are due to single gene defect.This entity is different from pediatric and adolescent IBD in pathogenesis and natural disease history.VEO-IBD patients have severe inflammatory manifestations and extensive colitis with systemic involvement.Patients suffer from high mortality.In order to improve outcome and prognosis,prompt precise diagnosis and treatment should be carried out.

关 键 词：极早发型炎性肠病 单基因疾病 基因检测 精准诊治 

分 类 号：R72[医药卫生—儿科]