提取
特发性肺纤维化(IPF)是一种罕见的上皮损伤疾病,导致持续的纤维化,肺部进行重塑,慢性呼吸衰竭[1]。IPF可以通过常用的间质肺炎(UIP)的放射学和组织病理学特征以及缺乏已知的引发剂(例如occupational dusts, autoimmunity; reviewed in [2]). Despite attempts to define IPF as a uniform disease entity based on clinical and radiological criteria [3], clinicians continue to struggle with significant variability in radiological appearance, disease progression and response to interventions, which can lead to delays in diagnosis or uncertainty in patient management. This “heterogeneity” arises from genetic and environmental influences which, despite major advances in the field, have thus far been incompletely characterised. As is the case for other rare diseases, policy makers and patients have advocated for the accelerated development of individualised approaches to patient management [4, 5]. Promising advances in the field include the ability to comprehensively characterise molecular and genetic features of disease using state-of-the art technologies, and orphan disease policies that facilitate the development of diagnostic and therapeutic modalities in the public and private sectors [6].
抽象
Nathan和官方工人对家族IPF患者遗传变异的研究表明了稀有疾病研究联盟的力量,并突出了开发IPF患者的个性化方法方面的挑战https://bit.ly/35uc5lw
脚注
Conflict of interest: A.S. Kristof has nothing to disclose.
支持声明:此工作得到了加拿大卫生研究院的支持,PJT 155971.本文的资助信息已存入CrossRef Resder注册表。
- 收到2020年8月24日。
- 公认9月6日,2020年。
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