Griese Matthias
Department of Pediatric Pneumology, Dr. von Haunersches Kinderspital, University of Munich, German Center for Lung Research, Lindwurmstr. 4a, D-80337 Munich, Germany.
J Clin Med. 2022 Mar 21;11(6):1747. doi: 10.3390/jcm11061747.
Interstitial lung diseases (ILD) or diffuse parenchymal lung diseases (DPLD) comprise a large number of disorders. Disease definition and classification allow advanced and personalized judgements on clinical disease, risks for genetic or environmental transmissions, and precision medicine treatments. Registers collect specific rare entities and use ontologies for a precise description of complex phenotypes. Here we present a brief history of ILD classification systems from adult and pediatric pneumology. We center on an etiologic classification, with four main categories: lung-only (native parenchymal) disorders, systemic disease-related disorders, exposure-related disorders, and vascular disorders. Splitting diseases into molecularly defined entities is key for precision medicine and the identification of novel entities. Lumping diseases targeted by similar diagnostic or therapeutic principles is key for clinical practice and register work, as our experience with the European children's ILD register (chILD-EU) demonstrates. The etiologic classification favored combines pediatric and adult lung diseases in a single system and considers genomics and other -omics as central steps towards the solution of "idiopathic" lung diseases. Future tasks focus on a systems' medicine approach integrating all data and bringing precision medicine closer to the patients.
间质性肺疾病（ILD）或弥漫性实质性肺疾病（DPLD）包括大量病症。疾病的定义和分类有助于对临床疾病、遗传或环境传播风险以及精准医学治疗进行深入和个性化的判断。登记处收集特定的罕见病种，并使用本体论精确描述复杂的表型。在此，我们介绍成人和儿童肺病ILD分类系统的简史。我们重点介绍病因分类，主要分为四大类：仅累及肺部（原发性实质）疾病、与全身性疾病相关的疾病、与暴露相关的疾病以及血管疾病。将疾病细分为分子定义的病种是精准医学和识别新病种的关键。正如我们在欧洲儿童ILD登记处（chILD-EU）的经验所示，根据相似的诊断或治疗原则对疾病进行归类是临床实践和登记工作的关键。所推崇的病因分类将儿童和成人肺部疾病整合在一个系统中，并将基因组学和其他“组学”视为解决“特发性”肺部疾病的核心步骤。未来的任务集中在系统医学方法上，整合所有数据，使精准医学更贴近患者。
