分子诊断技术在儿童炎症性肠病诊治中的意义

Significance of molecular diagnostic technology in the diagnosis and treatment of inflammatory bowel disease in children

随着生物学信息技术的不断发展,分子诊断越来越多地被应用于临床实践与治疗。儿童炎症性肠病(IBD)是感染、免疫、环境等因素作用于特定遗传背景下引起的慢性肠道炎症。儿童IBD,尤其是早发、极早发IBD的发病与单基因缺陷关系更为密切。在临床工作中早期识别这类患儿,及时完善基因检测,不仅可以明确基因缺陷类型,而且可以揭示其炎症信号传导通路,为治疗方案选择提供理论依据。同时IBD治疗药物相关的药物遗传学直接影响机体对药物的应答率,从而影响临床缓解及肠黏膜修复,因此尽快了解与揭示亚裔人口的自身药物免疫原性,对减少不必要的医疗资源浪费、减少患儿在诱导缓解及维持缓解期不必要的药物不良反应、减少并发症及复发十分重要。总之,分子诊断在儿童IBD诊治中的意义不仅仅限于病因诊断,对治疗方法及药物选择也有指导意义。

With the development of biological technology,molecular diagnosis has been increasingly applied in clinical practice and treatment.Inflammatory bowel disease(IBD)in children is a chronic intestinal inflammation caused by infection,immunity,environment and other factors in a specific genetic background.Children with IBD,especially early-onset and very early-onset IBD,can be considered a monogenic disease.Early identification of such children in clinical work and timely improvement of gene detection can identify the types of gene defects and reveal the inflammatory signal transduction pathways,providing a theoretical basis for the selection of treatment options.Moreover,drug-related pharmacogenetics in the treatment of IBD directly affects the organism′s response rate to drugs,thereby affecting the clinical remission and intestinal mucosal repair.Therefore,the understanding of the characteristics of drug immunogenicity of the Asian population,which can reduce the unnecessary waste of medical resources,the adverse drug reactions in children during the induction and maintenance of remission and complications and recurrence rate,is of great importance.