1 Department of Medicine, Johns Hopkins University School of Medicine, Baltimore Maryland.
2 Department of Public Health Sciences, Henry Ford Hospital, Detroit, Michigan.
Ann Am Thorac Soc. 2017 Dec;14(Supplement_6):S429-S436. doi: 10.1513/AnnalsATS.201707-565OT.
Sarcoidosis is a multisystem disease with tremendous heterogeneity in disease manifestations, severity, and clinical course that varies among different ethnic and racial groups. To better understand this disease and to improve the outcomes of patients, a National Heart, Lung, and Blood Institute workshop was convened to assess the current state of knowledge, gaps, and research needs across the clinical, genetic, environmental, and immunologic arenas. We also explored to what extent the interplay of the genetic, environmental, and immunologic factors could explain the different phenotypes and outcomes of patients with sarcoidosis, including the chronic phenotypes that have the greatest healthcare burden. The potential use of current genetic, epigenetic, and immunologic tools along with study approaches that integrate environmental exposures and precise clinical phenotyping were also explored. Finally, we made expert panel-based consensus recommendations for research approaches and priorities to improve our understanding of the effect of these factors on the health outcomes in sarcoidosis.
结节病是一种多系统疾病，其临床表现、严重程度和临床过程在不同种族和人群中存在巨大异质性。为了更好地了解这种疾病并改善患者的预后，美国国立心肺血液研究所召集了一次研讨会，以评估临床、遗传、环境和免疫学领域的现有知识、差距和研究需求。我们还探讨了遗传、环境和免疫因素的相互作用在多大程度上可以解释结节病患者不同的表型和结局，包括对医疗保健造成最大负担的慢性表型。还探讨了当前遗传、表观遗传和免疫学工具的潜在用途以及整合环境暴露和精确临床表型的研究方法。最后，我们基于专家小组的共识，提出了研究方法和优先事项的建议，以提高我们对这些因素对结节病患者健康结局影响的理解。
