Management of suspected monogenic lung fibrosis in a specialised centre.

Abstract excerpt

At least 10% of patients with interstitial lung disease present monogenic lung fibrosis suspected on familial aggregation of pulmonary fibrosis, specific syndromes or early age of diagnosis. Approximately 25% of families have an identified mutation in genes mostly involved in telomere homeostasis, and more rarely in surfactant homeostasis.Beyond pathophysiological knowledge, detection of these mutations has...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic Testing
• Share to Interdisciplinary Communication