Rémi Diesler, Marie Legendre, Salim Si-Mohamed, Pierre-Yves Brillet, Lidwine Wemeau, Effrosyni D Manali, Frédéric Gagnadoux, Sandrine Hirschi, Gwenaël Lorillon, Martine Reynaud-Gaubert, Vanessa Bironneau, Elodie Blanchard, Arnaud Bourdin, Stéphane Dominique, Aurélien Justet, Julie Macey, Sylvain Marchand-Adam, Hélène Morisse-Pradier, Hilario Nunes, Spyros A Papiris, Julie Traclet, Ibrahim Traore, Bruno Crestani, Serge Amselem, Nadia Nathan, Raphaël Borie, Vincent Cottin
BACKGROUND AND OBJECTIVE: Variants in surfactant genes SFTPC or ABCA3 are responsible for interstitial lung disease (ILD) in children and adults, with few studies in adults. METHODS: We conducted a multicentre retrospective study of all consecutive adult patients diagnosed with ILD associated with variants in SFTPC or ABCA3 in the French rare pulmonary diseases network, OrphaLung. Variants and chest computed tomography (CT) features were centrally reviewed. RESULTS: We included 36 patients (median age: 34 years, 20 males), 22 in the SFTPC group and 14 in the ABCA3 group...
February 12, 2024: Respirology: Official Journal of the Asian Pacific Society of Respirology