RT Journal Article
SR Electronic
T1 Management of suspected monogenic lung fibrosis in a specialised centre
JF European Respiratory Review
JO EUROPEAN RESPIRATORY REVIEW
FD European Respiratory Society
SP 160122
DO 10.1183/16000617.0122-2016
VO 26
IS 144
A1 Borie, Raphael
A1 Kannengiesser, Caroline
A1 Sicre de Fontbrune, Flore
A1 Gouya, Laurent
A1 Nathan, Nadia
A1 Crestani, Bruno
YR 2017
UL http://err.ersjournals.com/content/26/144/160122.abstract
AB 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.Monogenic pulmonary fibrosis raises specific problems that should be addressed by a specialised team http://ow.ly/YJUM30aoREG