Genetic Interstitial Lung Disease

Technological advances have led to an explosion of genetic discoveries, shedding new light on the underlying pathogenesis of interstitial lung disease (ILD). Identification of the genetic etiology provides a molecular explanation for the ILD and other patient phenotypes. The goal of this chapter is to summarize (1) genetic syndromes involving multiple organs, in which ILD is one of many different phenotypes and (2) genetic disorders in which ILD is the dominant phenotype. Discoveries of the genetic underpinnings of ILD have identified common pathways of lung fibrosis, including altered surfactant metabolism, increased endoplasmic reticulum stress signaling, and telomere shortening.