Management of suspected monogenic lung fibrosis in a specialised centre
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, a...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
European Respiratory Society
2017-04-01
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| Series: | European Respiratory Review |
| Online Access: | http://err.ersjournals.com/content/26/144/160122.full |
| _version_ | 1811233401433227264 |
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| author | Raphael Borie Caroline Kannengiesser Flore Sicre de Fontbrune Laurent Gouya Nadia Nathan Bruno Crestani |
| author_facet | Raphael Borie Caroline Kannengiesser Flore Sicre de Fontbrune Laurent Gouya Nadia Nathan Bruno Crestani |
| author_sort | Raphael Borie |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T11:19:51Z |
| format | Article |
| id | doaj.art-2362e2306e014b2bb0523186089dc892 |
| institution | Directory Open Access Journal |
| issn | 0905-9180 1600-0617 |
| language | English |
| last_indexed | 2024-04-12T11:19:51Z |
| publishDate | 2017-04-01 |
| publisher | European Respiratory Society |
| record_format | Article |
| series | European Respiratory Review |
| spelling | doaj.art-2362e2306e014b2bb0523186089dc8922022-12-22T03:35:24ZengEuropean Respiratory SocietyEuropean Respiratory Review0905-91801600-06172017-04-012614410.1183/16000617.0122-20160122-2016Management of suspected monogenic lung fibrosis in a specialised centreRaphael Borie0Caroline Kannengiesser1Flore Sicre de Fontbrune2Laurent Gouya3Nadia Nathan4Bruno Crestani5 Service de Pneumologie A, Centre de Compétence des Maladies Pulmonaires Rares, Paris, France Université Paris Diderot, Paris, France Service d'Hématologie Greffe de Moelle, CMRM Aplasies médullaires, Hôpital Saint Louis, APHP, Paris, France Université Paris Diderot, Paris, France Service de Pneumologie Pédiatrique, Centre National de Référence des Maladies Respiratoires Rares, Hôpital Armand-Trousseau, APHP, Paris, France Service de Pneumologie A, Centre de Compétence des Maladies Pulmonaires Rares, Paris, France 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.http://err.ersjournals.com/content/26/144/160122.full |
| spellingShingle | Raphael Borie Caroline Kannengiesser Flore Sicre de Fontbrune Laurent Gouya Nadia Nathan Bruno Crestani Management of suspected monogenic lung fibrosis in a specialised centre European Respiratory Review |
| title | Management of suspected monogenic lung fibrosis in a specialised centre |
| title_full | Management of suspected monogenic lung fibrosis in a specialised centre |
| title_fullStr | Management of suspected monogenic lung fibrosis in a specialised centre |
| title_full_unstemmed | Management of suspected monogenic lung fibrosis in a specialised centre |
| title_short | Management of suspected monogenic lung fibrosis in a specialised centre |
| title_sort | management of suspected monogenic lung fibrosis in a specialised centre |
| url | http://err.ersjournals.com/content/26/144/160122.full |
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