Clinical Genetics in Interstitial Lung Disease

Frontiers in Medicine
Chad A NewtonJustin M Oldham

Abstract

Interstitial lung disease (ILD) comprises a heterogeneous group of diffuse parenchymal lung processes with overlapping clinical, radiographic, and histopathologic features. Among the most common and deadly ILDs are idiopathic pulmonary fibrosis (IPF) and chronic hypersensitivity pneumonitis (CHP). As the name implies, the cause of IPF remains elusive, but a variety of genetic and infectious risk factors have been identified. CHP results from chronic inhalation of an organic antigen, usually of avian or mold origin, and may occur in patients with a genetic predisposition. While IPF is treated with anti-fibrotic compounds, CHP is generally treated by suppression of the immune system and elimination of the causative antigen. Despite advances in our understanding of IPF and CHP, there exists substantial variability in the diagnosis and treatment of these disease processes. Furthermore, IPF and CHP natural history and treatment response remain far from uniform, leaving it unclear which patients derive the most benefit from disease-specific therapy. While clinical prediction models have improved our understanding of outcome risk in patients with various forms of ILD, recent advances in genomic technology provides a valuable opportuni...Continue Reading

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Citations

Dec 12, 2018·Expert Review of Respiratory Medicine·Riccardo InchingoloLuca Richeldi
Jul 20, 2019·BMC Pulmonary Medicine·Ekaterina KraussAndreas Guenther
Mar 18, 2020·Molecular Biology Reports·Yujuan WangJunling Yang
Apr 4, 2021·Journal of Clinical Medicine·Carmel J W Stock, Elisabetta A Renzoni
Jun 27, 2021·Current Opinion in Pulmonary Medicine·Marissa O'CallaghanCormac McCarthy
Jun 22, 2020·La Presse médicale·Nadia NathanAnnick Clement

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Methods Mentioned

BETA
genotyping
bronchoalveolar
PCR
electrophoresis
lavage

Clinical Trials Mentioned

ISRCTN17464641
NCT02759120

Software Mentioned

PANTHER

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