Abstract
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 practical consequence for patients. For instance, mutations involved in telomere homeostasis are associated with haematological complications after lung transplantation and may require adapted immunosuppression. Moreover, relatives may benefit from a clinical and genetic evaluation that should be specifically managed.
The field of genetics of pulmonary fibrosis has made great progress in the last 10 years, raising specific problems that should be addressed by a specialised team.
Abstract
Monogenic pulmonary fibrosis raises specific problems that should be addressed by a specialised team http://ow.ly/YJUM30aoREG
Footnotes
Support statement: This work was supported by the Chancellerie des Universités de Paris (legs Poix), la Fondation du Souffle and by a grant “FPI-SPC” from the Université Sorbonne Paris Cité and a grant from Roche. Funding information for this article has been deposited with the Crossref Funder Registry.
Conflict of interest: Disclosures can be found alongside this article at err.ersjournals.com
Provenance: Commissioned article, peer reviewed.
- Received December 23, 2016.
- Accepted February 21, 2017.
- Copyright ©ERS 2017.
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