Fiche publication
Date publication
décembre 2019
Journal
Orphanet journal of rare diseases
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BONNIAUD Philippe
Tous les auteurs :
Borie R, Kannengiesser C, Gouya L, Dupin C, Amselem S, Ba I, Bunel V, Bonniaud P, Bouvry D, Cazes A, Clement A, Debray MP, Dieude P, Epaud R, Fanen P, Lainey E, Legendre M, Plessier A, Sicre de Fontbrune F, Wemeau-Stervinou L, Cottin V, Nathan N, Crestani B
Lien Pubmed
Résumé
Genetic testing is proposed for suspected cases of monogenic pulmonary fibrosis, but clinicians and patients need specific information and recommendation about the related diagnosis and management issues. Because multidisciplinary discussion (MDD) has been shown to improve accuracy of interstitial lung disease (ILD) diagnosis, we evaluated the feasibility of a genetic MDD (geneMDD) dedicated to the indication for and interpretation of genetic testing. The geneMDD group met monthly and included pediatric and adult lung specialists with ILD expertise, molecular and clinical geneticists, and one radiologist. Hematologists, rheumatologists, dermatologists, hepatologists, and pathologists were also invited to attend.
Mots clés
Familial; multidisciplinary discussion, Interstitial pulmonary fibrosis, Surfactant, TERT, Telomerase
Référence
Orphanet J Rare Dis. 2019 12 3;14(1):280
