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生物标志物在慢性气道疾病

2026/02/25

    摘要慢性气道疾病,包括哮喘、慢性阻塞性肺疾病、支气管扩张症和囊性纤维化,日益被认为是具有异质性和重叠性的综合征,它们共享可治疗的生物学和临床特征。“可治疗特征”策略是一种超越诊断标签的精准医学框架,旨在识别并干预每位患者可纠正的肺部、肺外及行为学特征。生物标志物是该范式中的核心要素,它们将潜在的内型转化为可测量的特征,为诊断、治疗选择和长期监测提供依据。本综述整合了当代证据,阐述生物标志物在慢性气道疾病中实施“可治疗特征”模型的作用。外周血和气道生物标志物,包括血嗜酸性粒细胞计数、呼出气一氧化氮(FENO)和痰液细胞谱,有助于识别2型炎症特征并预测糖皮质激素或生物制剂的反应性。影像学和定量CT指标将特征定义扩展至结构和功能领域。同时,多组学和微生物组特征揭示了支撑疾病异质性的分子内型。典型例证包括血嗜酸性粒细胞计数可预测慢阻肺患者吸入糖皮质激素的获益,而FENO则提示哮喘患者的激素反应性。此外,新兴数据表明,在急性加重期间快速识别特征可能有助于靶向生物治疗的实施,将精准医疗延伸至急性管理场景。将生物标志物指导的评估与个体化治疗相结合,通过提供一条通向生物学精准、动态适应的照护路径,正在重新定义慢性气道疾病的管理。未来的研究应聚焦于标准化生物标志物的阈值、验证复合指标组合,并将组学和影像学发现转化为常规临床工具,以优化整个慢性气道疾病谱系的治疗结局。
    关键词: 哮喘;生物标志物;支气管扩张症;慢性阻塞性肺疾病;囊性纤维化;可治疗特征
南方医科大学南方医院  陈垚欣 赵文驱 赵海金)
 (Cazzola M, et al.The importance of biomarkers in the treatable-trait approach to chronic airway diseasesPulm Pharmacol Ther. 2026 Feb 2:92:102410.)

Abstract
Chronic airway diseases (CAD), including asthma, chronic obstructive pulmonary disease (COPD), bronchiectasis, and cystic fibrosis, are increasingly recognized as heterogeneous and overlapping syndromes that share treatable biological and clinical characteristics. The Treatable Traits (TT) approach is a precision medicine framework that transcends diagnostic labels. It identifies and targets modifiable pulmonary, extrapulmonary, and behavioral characteristics in each patient. Biomarkers are central to this paradigm, translating latent endotypes into measurable traits that inform diagnosis, treatment selection, and longitudinal monitoring. This review synthesizes contemporary evidence on the role of biomarkers in implementing the TT model across CAD. Peripheral and airway biomarkers, including blood eosinophil count (BEC), fractional exhaled nitric oxide (FeNO), and sputum cell profiles, enable the identification of type 2 inflammatory traits and the prediction of corticosteroid or biologic responsiveness. Imaging and quantitative computed tomography metrics extend trait definition to structural and functional domains. Meanwhile, multi-omic and microbiome signatures reveal the molecular endotypes that underpin disease heterogeneity. Canonical examples include BEC predicting the benefit of inhaled corticosteroids in COPD and FeNO indicating steroid responsiveness in asthma. Additionally, emerging data suggest that rapid trait identification during acute exacerbations may facilitate targeted biologic therapy, extending precision care into acute management contexts. Integrating biomarker-guided assessment with individualized therapy redefines the management of CAD by offering a pathway toward biologically precise, dynamically adaptive care. Continued research should focus on standardizing biomarker thresholds, validating composite panels, and translating omic and imaging discoveries into routine clinical tools to optimize outcomes across the chronic airway disease spectrum.
Keywords: Asthma; Biomarkers; Bronchiectasis; Chronic obstructive pulmonary disease; Cystic fibrosis; Treatable traits.


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