ABSTRACT
Pulmonary fibrosis is a devastating disease that occurs in association with environmental
exposures, several inherited diseases, collagen vascular disease, as well as in an
idiopathic form. Epithelial cell damage, excessive fibroblast proliferation, upregulation
of extracellular matrix production, and attenuated matrix degradation are shared pathophysiological
features of these different forms of pulmonary fibrosis. Several observations suggest
that genetic predisposition plays an important role in the pathophysiology of pulmonary
fibrosis. There is significant inter-individual variation in the degree of pulmonary
fibrosis resulting from exposure to similar levels of an inhaled fibrogenic agent.
There are several inherited diseases with known genetic mutations that have high rates
of pulmonary fibrosis. Idiopathic pulmonary fibrosis can occur in multiple first-degree
relatives, including those separated at an early age. Finally, recent studies have
identified polymorphisms within genes for cytokines, histocompatability antigens,
and extracellular matrix components that are associated with the development of pulmonary
fibrosis. Identification of putative pulmonary fibrosis gene/s (PF gene/s) may result in novel diagnostic and therapeutic
interventions for those at risk for development of pulmonary fibrosis.
KEYWORD
Pulmonary fibrosis - usual interstitial pneumonitis - genetic predisposition - inherited
disorders - fibroproliferation
