Yang Li, Elias Seidl, Katrin Knoflach, Florian Gothe, Maria Elisabeth Forstner, Katarzyna Michel, Ingo Pawlita, Florian Gesenhues, Franziska Sattler, Xiaohua Yang, Carolin Kroener, Simone Reu-Hofer, Julia Ley-Zaporozhan, Birgit Kammer, Ingrid Krüger-Stollfuß, Julien Dinkel, Julia Carlens, Martin Wetzke, Antonio Moreno-Galdó, Alba Torrent-Vernetta, Joanna Lange, Katarzyna Krenke, Nisreen Rumman, Sarah Mayell, Tugba Sismanlar, Ayse Aslan, Nicolas Regamey, Marijke Proesmans, Florian Stehling, Lutz Naehrlich, Kilinc Ayse, Sebastian Becker, Cordula Koerner-Rettberg, Erika Plattner, Effrosyni D Manali, Spyridon A Papiris, Ilaria Campo, Matthias Kappler, Nicolaus Schwerk, Matthias Griese
BACKGROUND: The majority of patients with childhood interstitial lung disease (chILD) caused by pathogenic variants in ATP binding cassette subfamily A member 3 (ABCA3) develop severe respiratory insufficiency within their first year of life and succumb to disease if not lung transplanted. This register-based cohort study reviews patients with ABCA3 lung disease who survived beyond the age of 1 year. METHOD: Over a 21-year period, patients diagnosed as chILD due to ABCA3 deficiency were identified from the Kids Lung Register database...
February 20, 2023: Thorax