Idiopathic pulmonary fibrosis (IPF) appears during adulthood and presents a high mortality with an unpredictable clinical course. In the last few years numerous studies have been published in which the role of certain candidate genes has been assessed with regards to their pathogenesis and prognosis. Mutations in genes related with surfactant metabolism have been described, as well as in genes related with maintenance-protection of telomeres with influence on survival, lung function deterioration, and response to drug treatment.
Familial pulmonary fibrosis (FPF), of dominant autosomal inheritance, shares radiological and anatomopathological characteristics similar to IPF (Usual Interstitial Pneumonia histological pattern) and is responsible for at least 4% of all IPF cases diagnosed as IPF. It has a more precocious onset in young adults. Several genes have been identified as a cause of this disease, fundamentally related with the telomerase complex and with surfactant metabolism.
Pulmonary fibrosis is a complication that also appears in other multisystem genetic diseases that are included in the telomeropathy group, such as dyskeratosis congenita.
The genetic application in the study of interstitial pulmonary disease has opened a door for the understanding of this heterogeneous group of diseases that share pathogenic mechanisms, for the study of new therapeutic targets, and the use of the genetic profile as a prognosis and response to treatment marker.
