Efficacy and safety of CFTR modulators in patients with interstitial lung disease caused by ABCA3 transporter deficiency
Year: 2024
Type: article
Abstract: Extract Pulmonary surfactant is essential to reduce alveolar surface tension. Ultra-rare pathogenic variants in surfactant related genes (SRG) result in severe interstitial lung disease (ILD) in children and adults. Among SRG, ABCA3 encodes for the ATP-binding cassette (ABCA3) an intra-cellular surfactant transporter [1]. Bi-allelic pathogenic variants in ABCA3 are responsible for ILD ranging from fatal neonatal respiratory distress to adult-onset lung fibrosis [2].
Source: ERJ Open Research
Institutions: Inserm, Université Paris Cité, Assistance Publique – Hôpitaux de Paris, Hôpital Bichat-Claude-Bernard, Physiopathologie et Epidémiologie des Maladies Respiratoires, Sorbonne Université, Hôpital Armand-Trousseau, Maladies génétiques d’expression pédiatrique, Hôpital Marie Lannelongue, NeuroDiderot, Hôpital Cochin, Centre Hospitalier Universitaire de Tours
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $808
OpenAlex ID: W4404137852