Pulmonology Department, Centro Hospitalar Universitário de São João, Porto, Portugal.
Division of Molecular and Clinical Medicine, Ninewells Hospital and Medical School, Dundee, DD1 9SY, Scotland, United Kinkdom.
Pulmonology. 2023 Nov-Dec;29(6):505-517. doi: 10.1016/j.pulmoe.2023.03.004. Epub 2023 Apr 6.
Bronchiectasis is a highly complex entity that can be very challenging to investigate and manage. Patients are diverse in their aetiology, symptoms, risk of complications and outcomes. "Endotypes"- subtypes of disease with distinct biological mechanisms, has been proposed as a means of better managing bronchiectasis. This review discusses the emerging field of endotyping in bronchiectasis. We searched PubMed and Google Scholar for randomized controlled trials (RCT), observational studies, systematic reviews and meta-analysis published from inception until October 2022, using the terms: "bronchiectasis", "endotypes", "biomarkers", "microbiome" and "inflammation". Exclusion criteria included commentaries and non-English language articles as well as case reports. Duplicate articles between databases were initially identified and appropriately excluded. Studies identified suggest that it is possible to classify bronchiectasis patients into multiple endotypes deriving from their co-morbidities or underlying causes to complex infective or inflammatory endotypes. Specific biomarkers closely related to a particular endotype might be used to determine response to treatment and prognosis. The most clearly defined examples of endotypes in bronchiectasis are the underlying causes such as immunodeficiency or allergic bronchopulmonary aspergillosis where the underlying causes are clearly related to a specific treatment. The heterogeneity of bronchiectasis extends, however, far beyond aetiology and it is now possible to identify subtypes of disease based on inflammatory mechanisms such airway neutrophil extracellular traps and eosinophilia. In future biomarkers of host response and infection, including the microbiome may be useful to guide treatments and to increase the success of randomized trials. Advances in the understanding the inflammatory pathways, microbiome, and genetics in bronchiectasis are key to move towards a personalized medicine in bronchiectasis.
支气管扩张症是一种高度复杂的疾病，其研究和管理极具挑战性。患者在病因、症状、并发症风险和结局方面存在多样性。“表型”——具有不同生物学机制的疾病亚型，被提出作为更好地管理支气管扩张症的一种方法。本文综述了支气管扩张症表型研究的新进展。我们检索了 PubMed 和 Google Scholar 中从建库至 2022 年 10 月发表的随机对照试验（RCT）、观察性研究、系统综述和荟萃分析，使用的术语包括：“支气管扩张症”、“表型”、“生物标志物”、“微生物组”和“炎症”。排除标准包括评论和非英语语言文章以及病例报告。首先确定数据库之间的重复文章，并适当排除。已确定的研究表明，有可能根据合并症或潜在病因将支气管扩张症患者分为多种表型，从而衍生出复杂的感染或炎症表型。与特定表型密切相关的特定生物标志物可能用于确定治疗反应和预后。在支气管扩张症中，最明确的表型定义是潜在病因，如免疫缺陷或变应性支气管肺曲霉病，潜在病因与特定治疗明显相关。然而，支气管扩张症的异质性远远超出病因，现在可以根据炎症机制（如气道中性粒细胞细胞外陷阱和嗜酸性粒细胞增多）来识别疾病亚型。宿主反应和感染的生物标志物（包括微生物组）的进步可能有助于指导治疗并提高随机试验的成功率。在支气管扩张症中，对炎症途径、微生物组和遗传学的理解的进展是迈向个体化医学的关键。
