The genetics of interstitial lung diseases.

Eur Respir Rev

Service de Pneumologie A, Hôpital Bichat, AP-HP, Paris, France

Published: September 2019

Interstitial lung diseases (ILDs) are a set of heterogeneous lung diseases characterised by inflammation and, in some cases, fibrosis. These lung conditions lead to dyspnoea, cough, abnormalities in gas exchange, restrictive physiology (characterised by decreased lung volumes), hypoxaemia and, if progressive, respiratory failure. In some cases, ILDs can be caused by systemic diseases or environmental exposures. The ability to treat or cure these ILDs varies based on the subtype and in many cases lung transplantation remains the only curative therapy. There is a growing body of evidence that both common and rare genetic variants contribute to the development and clinical manifestation of many of the ILDs. Here, we review the current understanding of genetic risk and ILD.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9488931PMC
http://dx.doi.org/10.1183/16000617.0053-2019DOI Listing

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