Fiche publication
Date publication
mai 2020
Journal
Orphanet journal of rare diseases
Auteurs
Membres identifiés du Cancéropôle Est :
Dr COLLONGE-RAME Marie-Agnès
,
Pr BONNIAUD Philippe
Tous les auteurs :
Daccord C, Cottin V, Prévot G, Uzunhan Y, Mornex JF, Bonniaud P, Borie R, Briault A, Collonge-Rame MA, Crestani B, Devouassoux G, Freynet O, Gondouin A, Hauss PA, Khouatra C, Leroy S, Marchand-Adam S, Marquette C, Montani D, Naccache JM, Nadeau G, Poulalhon N, Reynaud-Gaubert M, Salaun M, Wallaert B, Cordier JF, Faouzi M, Lazor R,
Lien Pubmed
Résumé
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN gene coding for folliculin. Its clinical expression includes cutaneous fibrofolliculomas, renal tumors, multiple pulmonary cysts, and recurrent spontaneous pneumothoraces. Data on lung function in BHD are scarce and it is not known whether lung function declines over time. We retrospectively assessed lung function at baseline and during follow-up in 96 patients with BHD.
Mots clés
Birt-Hogg-Dube syndrome, FLCN protein, human, Pleurodesis, Respiratory function tests
Référence
Orphanet J Rare Dis. 2020 May 24;15(1):120
