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Reflections on some problems of individual precise treatment for asthma in children

  

  1. Department of Respiratory Medicine,Children’s Hospital of Capital Institute of Pediatrics, Beijing 100020,China
  • Online:2020-03-06 Published:2020-04-16

对儿童哮喘个体精准治疗若干问题的思考

  

  1. 首都儿科研究所附属儿童医院呼吸内科,北京 100020

Abstract: Asthma is the most common chronic respiratory disease. The specialists are increasingly advocating precise treatment. There are many phenotypes of asthma:onset age, trigger factors,severity,medical?treatment response,etc.,but the phenotype is too rough to guide the treatment of asthma. There are also endotypes of asthma(also known as molecular phenotypes), which reflect the characteristics observed in the phenotype through some special biomarkers. Among them,induced sputum eosinophil count,exhaled nitric oxide(FeNO),bronchial hyperresponsiveness and so on,are very important biomarkers,which can guide personalized treatment. In addition,according to gene mutation,abnormality and polymorphism,asthma genotypes are classified. Theoretically,this classification is the most accurate way to guide the precise treatment. However,due to the gene polymorphism,the accuracy of detection technology,the correlation between gene variation and clinics,and other factors outside the body,it is not easy to directly use gene sequencing results analysis to guide clinical practice.

Key words: childhood asthma, precise treatment, phenotype, endotype, genotype

摘要: 哮喘是最常见的慢性呼吸道疾病,目前提倡精准医疗。哮喘的表型很多,包括发作年龄、触发因素、严重程度、药物治疗反应等,但表型过于粗略,指导哮喘治疗作用有限。此外,还有哮喘内型(又称分子表型),可通过一些特殊的生物标志物来反映表型中观察到的特性,其中诱导痰嗜酸细胞计数、呼出气一氧化氮(FeNO)、支气管高反应性程度等都是非常重要的生物标志物,可以指导个体化治疗。另外根据基因突变、异常、多态性对哮喘进行基因型的分类,理论上这种分类是最能指导精准治疗的分类方式。但是由于哮喘涉及的基因多态性、检测技术的准确性、基因变异和临床的相关性,以及其他机体外影响因素过多,目前还不能直接采用基因测序结果分析来指导临床用药。

关键词: 儿童哮喘, 精准医疗, 表型, 内型, 基因型