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SHR Neuro Cancer Cardio Lipid Metab Microb
Kröner, C; Wittmann, T; Reu, S; Teusch, V; Klemme, M; Rauch, D; Hengst, M; Kappler, M; Cobanoglu, N; Sismanlar, T; Aslan, AT; Campo, I; Proesmans, M; Schaible, T; Terheggen-Lagro, S; Regamey, N; Eber, E; Seidenberg, J; Schwerk, N; Aslanidis, C; Lohse, P; Brasch, F; Zarbock, R; Griese, M.
Lung disease caused by ABCA3 mutations.
Thorax. 2017; 72(3):213-220
Doi: 10.1136/thoraxjnl-2016-208649
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- Eber Ernst
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- Abstract:
- 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. We retrospectively analysed baseline and outcome characteristics of 40 patients with two disease-causing ABCA3 mutations collected between 2001 and 2015. 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. 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. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.
- Find related publications in this database (using NLM MeSH Indexing)
- 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
- Lung Diseases, Interstitial - mortality
- Male -
- Microscopy, Electron -
- Mutation -
- Phenotype -
- Retrospective Studies -
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