Pulmonary Fibrosis and Telomerase Mutation Study

Phenotype of Pulmonary Fibrosis Associated With a Mutation of Telomerase

This study is an observational and retrospective study of patients with pulmonary fibrosis associated or not with telomerase mutation.

The purpose of this study is to describe in detail the cases with telomerase mutation in terms of features on CT scan, respiratory function and evolution, in comparison to control subjects with idiopathic pulmonary fibrosis and no telomerase mutation identified or family history.

Two "control" subjects will be enrolled for one subject with telomerase mutation.

The data are all the results of investigations conducted for the diagnosis of idiopathic pulmonary fibrosis and during routine follow up of patients.

The CT scans will reviewed centrally to homogenize the description.

Inclusion Criteria:

• Diffuse interstitial lung disease on CT scan
• Telomerase mutation analysis

Exclusion Criteria:

• Presence of connective tissue disease, or pneumoconiosis or drug induced lung disease