Lung disease caused by ABCA3 mutations

C. Kroner, T. Wittmann, S. Reu, V. Teusch, M. Klemme, D. Rauch, M. Hengst, M. Kappler, N. Cobanoglu, T. Sismanlar, A. T. Aslan, I. Campo, M. Proesmans, T. Schaible, S. Terheggen-Lagro, N. Regamey, E. Eber, J. Seidenberg, N. Schwerk, C. AslanidisP. Lohse, F. Brasch, R. Zarbock, M. Griese

Research output: Contribution to journalArticlepeer-review


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 (>5 years) survival of subjects with two disease-causing ABCA3 mutations was
Original languageEnglish
Pages (from-to)213-220
Number of pages8
Issue number3
Publication statusPublished - Mar 1 2017


  • ATP-Binding Cassette Transporters/genetics
  • Adolescent
  • Adult
  • Biopsy
  • Bronchoalveolar Lavage Fluid/chemistry
  • Child
  • Child, Preschool
  • Consanguinity
  • Diagnostic Imaging
  • Female
  • Genotype
  • Humans
  • Immunohistochemistry
  • Infant
  • Infant, Newborn
  • Lung Diseases, Interstitial/genetics/mortality
  • Male
  • Microscopy, Electron
  • Mutation
  • Phenotype
  • Retrospective Studies
  • Survival Analysis
  • ABCA3
  • Paediatric interstitial lung disease
  • Surfactant protein


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