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Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study
INTRODUCTION: Fabry disease (FD) is a lysosomal storage disorder leading to decreased α-galactosidase A enzyme activity and subsequent abnormal accumulation of glycosphingolipids in various organs. Although histological evidence of lung involvement has been demonstrated, the functional impact of the...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526574/ https://www.ncbi.nlm.nih.gov/pubmed/28742806 http://dx.doi.org/10.1371/journal.pone.0180437 |
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author | Franzen, Daniel P. Nowak, Albina Haile, Sarah R. Mottet, Dominique Bonani, Marco Dormond, Olivier Kohler, Malcolm Krayenbuehl, Pierre A. Barbey, Frederic |
author_facet | Franzen, Daniel P. Nowak, Albina Haile, Sarah R. Mottet, Dominique Bonani, Marco Dormond, Olivier Kohler, Malcolm Krayenbuehl, Pierre A. Barbey, Frederic |
author_sort | Franzen, Daniel P. |
collection | PubMed |
description | INTRODUCTION: Fabry disease (FD) is a lysosomal storage disorder leading to decreased α-galactosidase A enzyme activity and subsequent abnormal accumulation of glycosphingolipids in various organs. Although histological evidence of lung involvement has been demonstrated, the functional impact of these changes is less clear. MATERIALS AND METHODS: Adult patients with FD who had yearly pulmonary function tests (PFT) at two centers from 1999 thru 2015 were eligible for this observational study. Primary outcome measures were the change in forced expiratory volume in the first second (FEV(1)) and FEV(1)/FVC over time. As secondary outcome we investigated sex, smoking, enzyme replacement therapy (ERT), residual enzyme activity, and Mainz Severity Score Index as possible predictors. RESULTS: 95 patients (41% male, 38.2 ± 14.5 years) were included. The overall prevalence of bronchial obstruction (BO, (FEV(1)/FVC < 70%)) was 46%, with male sex, age and smoking as significant predictors. FEV(1) decreased 29 ml per year (95% CI -36, -22 ml, p<0.0001). FEV(1) decline was significantly higher in males (p = 0.009) and in patients on ERT (p = 0.004). Conclusion: Pulmonary involvement seems to be a relevant manifestation of Fabry disease, and routine PFTs should therefore be included in the multidisciplinary follow-up of these patients. |
format | Online Article Text |
id | pubmed-5526574 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-55265742017-08-07 Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study Franzen, Daniel P. Nowak, Albina Haile, Sarah R. Mottet, Dominique Bonani, Marco Dormond, Olivier Kohler, Malcolm Krayenbuehl, Pierre A. Barbey, Frederic PLoS One Research Article INTRODUCTION: Fabry disease (FD) is a lysosomal storage disorder leading to decreased α-galactosidase A enzyme activity and subsequent abnormal accumulation of glycosphingolipids in various organs. Although histological evidence of lung involvement has been demonstrated, the functional impact of these changes is less clear. MATERIALS AND METHODS: Adult patients with FD who had yearly pulmonary function tests (PFT) at two centers from 1999 thru 2015 were eligible for this observational study. Primary outcome measures were the change in forced expiratory volume in the first second (FEV(1)) and FEV(1)/FVC over time. As secondary outcome we investigated sex, smoking, enzyme replacement therapy (ERT), residual enzyme activity, and Mainz Severity Score Index as possible predictors. RESULTS: 95 patients (41% male, 38.2 ± 14.5 years) were included. The overall prevalence of bronchial obstruction (BO, (FEV(1)/FVC < 70%)) was 46%, with male sex, age and smoking as significant predictors. FEV(1) decreased 29 ml per year (95% CI -36, -22 ml, p<0.0001). FEV(1) decline was significantly higher in males (p = 0.009) and in patients on ERT (p = 0.004). Conclusion: Pulmonary involvement seems to be a relevant manifestation of Fabry disease, and routine PFTs should therefore be included in the multidisciplinary follow-up of these patients. Public Library of Science 2017-07-25 /pmc/articles/PMC5526574/ /pubmed/28742806 http://dx.doi.org/10.1371/journal.pone.0180437 Text en © 2017 Franzen et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Research Article Franzen, Daniel P. Nowak, Albina Haile, Sarah R. Mottet, Dominique Bonani, Marco Dormond, Olivier Kohler, Malcolm Krayenbuehl, Pierre A. Barbey, Frederic Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study |
title | Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study |
title_full | Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study |
title_fullStr | Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study |
title_full_unstemmed | Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study |
title_short | Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study |
title_sort | long-term follow-up of pulmonary function in fabry disease: a bi-center observational study |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526574/ https://www.ncbi.nlm.nih.gov/pubmed/28742806 http://dx.doi.org/10.1371/journal.pone.0180437 |
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