TY - JOUR T1 - Lung disease caused by <em>ABCA3</em> mutations JF - Thorax JO - Thorax SP - 213 LP - 220 DO - 10.1136/thoraxjnl-2016-208649 VL - 72 IS - 3 AU - Carolin Kröner AU - Thomas Wittmann AU - Simone Reu AU - Veronika Teusch AU - Mathias Klemme AU - Daniela Rauch AU - Meike Hengst AU - Matthias Kappler AU - Nazan Cobanoglu AU - Tugba Sismanlar AU - Ayse T Aslan AU - Ilaria Campo AU - Marijke Proesmans AU - Thomas Schaible AU - Susanne Terheggen-Lagro AU - Nicolas Regamey AU - Ernst Eber AU - Jürgen Seidenberg AU - Nicolaus Schwerk AU - Charalampos Aslanidis AU - Peter Lohse AU - Frank Brasch AU - Ralf Zarbock AU - Matthias Griese Y1 - 2017/03/01 UR - http://thorax.bmj.com/content/72/3/213.abstract N2 - Background Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort.Methods We retrospectively analysed baseline and outcome characteristics of 40 patients with two disease-causing ABCA3 mutations collected between 2001 and 2015.Results Of 22 homozygous (15 male) and 18 compound heterozygous patients (3 male), 37 presented with neonatal respiratory distress syndrome as term babies. At follow-up, two major phenotypes are documented: patients with (1) early lethal mutations subdivided into (1a) dying within the first 6 months or (1b) before the age of 5 years, and (2) patients with prolonged survival into childhood, adolescence or adulthood. Patients with null/null mutations predicting complete ABCA3 deficiency died within the 1st weeks to months of life, while those with null/other or other/other mutations had a more variable presentation and outcome. Treatment with exogenous surfactant, systemic steroids, hydroxychloroquine and whole lung lavages had apparent but many times transient effects in individual subjects.Conclusions Overall long-term (&gt;5 years) survival of subjects with two disease-causing ABCA3 mutations was &lt;20%. Response to therapies needs to be ascertained in randomised controlled trials. ER -