Lung disease caused by ABCA3 mutations
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 characteri...
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| Main Authors: | , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
2017
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| In: |
Thorax
Year: 2017, Volume: 72, Issue: 3, Pages: 213-220 |
| ISSN: | 1468-3296 |
| DOI: | 10.1136/thoraxjnl-2016-208649 |
| Online Access: | Verlag, Volltext: http://dx.doi.org/10.1136/thoraxjnl-2016-208649 Verlag, Volltext: https://thorax.bmj.com/content/72/3/213 Resolving-System, Informationsseite zum Volltext, Volltext: https://doi.org/10.1136/thoraxjnl-2016-208649 
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| Author Notes: | Carolin Kröner, Thomas Wittmann, Simone Reu, Veronika Teusch, Mathias Klemme, Daniela Rauch, Meike Hengst, Matthias Kappler, Nazan Cobanoglu, Tugba Sismanlar, Ayse T. Aslan, Ilaria Campo, Marijke Proesmans, Thomas Schaible, Susanne Terheggen-Lagro, Nicolas Regamey, Ernst Eber, Jürgen Seidenberg, Nicolaus Schwerk, Charalampos Aslanidis, Peter Lohse, Frank Brasch, Ralf Zarbock, Matthias Griese |
| Summary: | 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 <20%. Response to therapies needs to be ascertained in randomised controlled trials. |
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| Item Description: | First published: 11 August 2016 Gesehen am 12.07.2018 |
| Physical Description: | Online Resource |
| ISSN: | 1468-3296 |
| DOI: | 10.1136/thoraxjnl-2016-208649 |