Kroener, Carolin and Wittmann, Thomas and Reu, Simone and Teusch, Veronika and Klemme, Mathias and Rauch, Daniela and Hengst, Meike and Kappler, Matthias and Cobanoglu, Nazan and Sismanlar, Tugba and Aslan, Ayse T. and Campo, Ilaria and Proesmans, Marijke and Schaible, Thomas and Terheggen-Lagro, Susanne and Regamey, Nicolas and Eber, Ernst and Seidenberg, Juergen and Schwerk, Nicolaus and Aslanidis, Charalampos and Lohse, Peter and Brasch, Frank and Zarbock, Ralf and Griese, Matthias (2017) Lung disease caused by ABCA3 mutations. THORAX, 72 (3). pp. 213-220. ISSN 0040-6376, 1468-3296
Full text not available from this repository. (Request a copy)Abstract
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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | RESPIRATORY-FAILURE; PULMONARY-FIBROSIS; GENE-MUTATIONS; 2 SIBLINGS; DEFICIENCY; CHILDREN; TRANSPORTER; SUPERFAMILY; GENOTYPE; INFANTS; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 14 Dec 2018 13:01 |
| Last Modified: | 19 Feb 2019 15:16 |
| URI: | https://pred.uni-regensburg.de/id/eprint/334 |
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