精准医学诊断学龄前儿童哮喘:临床评分、肺功能、生物标志物和基因检测的比较

IF 4 3区 医学 Q1 PEDIATRICS
Jose A Castro-Rodriguez, Gustavo Nino, Asher Tal, Erick Forno
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引用次数: 0

摘要

哮喘是几种表型和内型的总称。它最常发生在6岁之前,在所有儿童年龄组中都有显著的发病率和肺功能下降。学龄前儿童哮喘诊断的延迟与更严重的恶化有关。临床医生面临的一个问题是如何在病程早期诊断哮喘;流行病学表型(即短暂性、持续性、迟发性和儿童期中期缓解性喘息)只能回顾性确定,临床表型(例如,发作性病毒性和多诱因喘息)具有高度可变性,与潜在的病理性气道标志物无关。国际指南建议在诊断5岁以下儿童哮喘之前进行肺功能测试和生物标志物。然而,在大多数患有哮喘的学龄前儿童中,肺活量测定和气道阻力测量通常是正常的,而血液嗜酸性粒细胞计数(吸入皮质类固醇治疗的最可靠的生物标志物)随着时间的推移变化很大。临床预测指标有助于学龄前儿童哮喘的预测和诊断。至少有8项临床预测指标已发表,其中4项已得到验证(API、PIAMA、APT和PARS)。在这里,我们将回顾诊断学龄前哮喘的挑战,几种临床指标的效用,以及结合生物标志物(如挥发性有机成分,呼出气体冷凝物和基因表达)的有用性。最后,我们将讨论该领域现有的差距和未来的研究方向。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Precision medicine to diagnose asthma in preschool children: comparison of clinical scores, lung function, biomarkers, and genetic tests.

Asthma is an umbrella term for several phenotypes and endotypes. It most frequently begins before the age of 6, with significant morbidity and decline in lung function occurring among all pediatric age groups. A delay in the diagnosis of asthma in preschoolers is associated with more severe exacerbations. One problem clinicians face is how to diagnose asthma early in its course; epidemiological phenotypes (i.e., transient, persistent, late-onset, and mid-childhood remitting wheeze) can only be ascertained retrospectively, and clinical phenotypes (e.g., episodic viral and multi-trigger wheeze) suffer from high variability and no relation with underlying pathological airway markers. International guidelines recommend that lung function tests and biomarkers be performed before diagnosing asthma in children under 5 years old. However, spirometry and airway resistance measures are typically normal in most preschoolers with asthma, and blood eosinophil counts, the most reliable biomarker for inhaled corticosteroid therapy, vary widely over time. Clinical predictive indices can help in predicting and diagnosing asthma in preschoolers. At least eight clinical predictive indices have been published, and four have been validated (API, PIAMA, APT, and PARS). Here, we will review the challenges of diagnosing asthma in the preschool age, the utility of several clinical indices, and the usefulness of incorporating biomarkers such as volatile organic components, exhaled breath condensate, and gene expression. Finally, we will discuss existing gaps and future directions for research in the field.

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来源期刊
Paediatric Respiratory Reviews
Paediatric Respiratory Reviews 医学-呼吸系统
CiteScore
12.50
自引率
0.00%
发文量
40
审稿时长
23 days
期刊介绍: Paediatric Respiratory Reviews offers authors the opportunity to submit their own editorials, educational reviews and short communications on topics relevant to paediatric respiratory medicine. These peer reviewed contributions will complement the commissioned reviews which will continue to form an integral part of the journal. Subjects covered include: • Epidemiology • Immunology and cell biology • Physiology • Occupational disorders • The role of allergens and pollutants A particular emphasis is given to the recommendation of "best practice" for primary care physicians and paediatricians. Paediatric Respiratory Reviews is aimed at general paediatricians but it should also be read by specialist paediatric physicians and nurses, respiratory physicians and general practitioners. It is a journal for those who are busy and do not have time to read systematically through literature, but who need to stay up to date in the field of paediatric respiratory and sleep medicine.
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