Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina
Evidence regarding long term effectiveness of enzyme replacement therapy (ERT) in Fabry disease (FD) is needed. The aim of this study was to analyze in a cohort of FD patients in Argentina, the long term effectiveness of ERT on renal, cardiac and cerebrovascular parameters. Methods: Patients with ge...
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| Format: | Article |
| Language: | English |
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Elsevier
2017-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426916301306 |
| _version_ | 1818518867632193536 |
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| author | Gustavo Cabrera Juan Politei Norberto Antongiovani Hernán Amartino |
| author_facet | Gustavo Cabrera Juan Politei Norberto Antongiovani Hernán Amartino |
| author_sort | Gustavo Cabrera |
| collection | DOAJ |
| description | Evidence regarding long term effectiveness of enzyme replacement therapy (ERT) in Fabry disease (FD) is needed. The aim of this study was to analyze in a cohort of FD patients in Argentina, the long term effectiveness of ERT on renal, cardiac and cerebrovascular parameters.
Methods: Patients with genetically proven FD were included from GADYTEF (Argentinean group for the treatment of FD) between 2001 and 2014. Renal, cardiac, and cerebral outcomes were prospectively studied in patients treated with ERT. Additionally, the occurrence of major cardiac complications, stroke, end-stage renal disease and death was analyzed during follow up.
Results: During the follow-up 8 major complications occurred in 5 patients (n = 2 deaths, n = 4 cases of end stage renal disease and n = 1 atrial fibrillation), 4 of them males and only 1 female who suffered an atrial fibrillation. Sudden death or stroke did not occur. Four (40%) of 10 males with baseline left ventricular hypertrophy (LVH) reduced left ventricular mass index (LVMI) from 163.1 ± 64.7 to 123.4 ± 49.8 g/m2, 2 stabilized LVMI and 4 increased LVMI from157.9 ± 32.3 to 261.6 ± 48.6 g/m2. Estimated glomerular filtration was stable in 30 patients (17 males and 13 females).
Conclusions: We observed a few major complications during the follow up. Future studies are necessary to show the effectiveness of ERT in affected patients. |
| first_indexed | 2024-12-11T01:16:12Z |
| format | Article |
| id | doaj.art-f863207023d94085a371afd813e749ed |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-11T01:16:12Z |
| publishDate | 2017-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-f863207023d94085a371afd813e749ed2022-12-22T01:25:52ZengElsevierMolecular Genetics and Metabolism Reports2214-42692017-06-0111C656810.1016/j.ymgmr.2017.02.005Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in ArgentinaGustavo CabreraJuan PoliteiNorberto AntongiovaniHernán AmartinoEvidence regarding long term effectiveness of enzyme replacement therapy (ERT) in Fabry disease (FD) is needed. The aim of this study was to analyze in a cohort of FD patients in Argentina, the long term effectiveness of ERT on renal, cardiac and cerebrovascular parameters. Methods: Patients with genetically proven FD were included from GADYTEF (Argentinean group for the treatment of FD) between 2001 and 2014. Renal, cardiac, and cerebral outcomes were prospectively studied in patients treated with ERT. Additionally, the occurrence of major cardiac complications, stroke, end-stage renal disease and death was analyzed during follow up. Results: During the follow-up 8 major complications occurred in 5 patients (n = 2 deaths, n = 4 cases of end stage renal disease and n = 1 atrial fibrillation), 4 of them males and only 1 female who suffered an atrial fibrillation. Sudden death or stroke did not occur. Four (40%) of 10 males with baseline left ventricular hypertrophy (LVH) reduced left ventricular mass index (LVMI) from 163.1 ± 64.7 to 123.4 ± 49.8 g/m2, 2 stabilized LVMI and 4 increased LVMI from157.9 ± 32.3 to 261.6 ± 48.6 g/m2. Estimated glomerular filtration was stable in 30 patients (17 males and 13 females). Conclusions: We observed a few major complications during the follow up. Future studies are necessary to show the effectiveness of ERT in affected patients.http://www.sciencedirect.com/science/article/pii/S2214426916301306Fabry diseaseEnzyme replacement therapyEffectiveness |
| spellingShingle | Gustavo Cabrera Juan Politei Norberto Antongiovani Hernán Amartino Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina Molecular Genetics and Metabolism Reports Fabry disease Enzyme replacement therapy Effectiveness |
| title | Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina |
| title_full | Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina |
| title_fullStr | Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina |
| title_full_unstemmed | Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina |
| title_short | Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina |
| title_sort | effectiveness of enzyme replacement therapy in fabry disease long term experience in argentina |
| topic | Fabry disease Enzyme replacement therapy Effectiveness |
| url | http://www.sciencedirect.com/science/article/pii/S2214426916301306 |
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