TY - JOUR
T1 - Lung disease caused by ABCA3 mutations
AU - Kröner, Carolin
AU - Wittmann, Thomas
AU - Reu, Simone
AU - Teusch, Veronika
AU - Klemme, Mathias
AU - Rauch, Daniela
AU - Hengst, Meike
AU - Kappler, Matthias
AU - Cobanoglu, Nazan
AU - Sismanlar, Tugba
AU - Aslan, Ayse T.
AU - Campo, Ilaria
AU - Proesmans, Marijke
AU - Schaible, Thomas
AU - Terheggen-Lagro, Susanne
AU - Regamey, Nicolas
AU - Eber, Ernst
AU - Seidenberg, Jürgen
AU - Schwerk, Nicolaus
AU - Aslanidis, Charalampos
AU - Lohse, Peter
AU - Brasch, Frank
AU - Zarbock, Ralf
AU - Griese, Matthias
PY - 2016/8/11
Y1 - 2016/8/11
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 diseasecausing 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 (>5 years) survival of subjects with two disease-causing ABCA3 mutations was
AB - 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 diseasecausing 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 (>5 years) survival of subjects with two disease-causing ABCA3 mutations was
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U2 - 10.1136/thoraxjnl-2016-208649
DO - 10.1136/thoraxjnl-2016-208649
M3 - Article
AN - SCOPUS:84981554535
JO - Thorax
JF - Thorax
SN - 0040-6376
ER -