Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective - Inserm - Institut national de la santé et de la recherche médicale Accéder directement au contenu
Article Dans Une Revue (Article De Synthèse) Diagnostics Année : 2022

Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective

Résumé

Background: Unraveling the genetic background in a significant proportion of patients with both sporadic and familial IPF provided new insights into the pathogenic pathways of pulmonary fibrosis. Aim: The aim of the present study is to overview the clinical significance of genetics in IPF. Perspective: It is fascinating to realize the so-far underestimated but dynamically increasing impact that genetics has on aspects related to the pathophysiology, accurate and early diagnosis, and treatment and prevention of this devastating disease. Genetics in IPF have contributed as no other in unchaining the disease from the dogma of a “a sporadic entity of the elderly, limited to the lungs” and allowed all scientists, but mostly clinicians, all over the world to consider its many aspects and “faces” in all age groups, including its co-existence with several extra pulmonary conditions from cutaneous albinism to bone-marrow and liver failure. Conclusion: By providing additional evidence for unsuspected characteristics such as immunodeficiency, impaired mucus, and surfactant and telomere maintenance that very often co-exist through the interaction of common and rare genetic variants in the same patient, genetics have created a generous and pluralistic yet unifying platform that could lead to the understanding of the injurious and pro-fibrotic effects of many seemingly unrelated extrinsic and intrinsic offending factors. The same platform constantly instructs us about our limitations as well as about the heritability, the knowledge and the wisdom that is still missing.
Fichier principal
Vignette du fichier
diagnostics-12-02928-v2.pdf (2.56 Mo) Télécharger le fichier
Origine : Fichiers éditeurs autorisés sur une archive ouverte

Dates et versions

inserm-04015679 , version 1 (06-03-2023)

Identifiants

Citer

Spyros Papiris, Caroline Kannengiesser, Raphael Borie, Lykourgos Kolilekas, Maria Kallieri, et al.. Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective. Diagnostics, 2022, 12 (12), pp.2928. ⟨10.3390/diagnostics12122928⟩. ⟨inserm-04015679⟩
14 Consultations
54 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More