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Will the FAbry STabilization indEX make its way to everyday clinical practice?
Despite several attempts at setting up a standardized disease severity score for Fabry disease in the past, none have been established in routine clinical practice due to the multisystem nature and complexity of this inherited enzyme deficiency disorder. In this issue, Mignani et al. report a large...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6366128/ https://www.ncbi.nlm.nih.gov/pubmed/30747153 http://dx.doi.org/10.1093/ckj/sfy126 |
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author | Cairns, Tereza Wanner, Christoph |
author_facet | Cairns, Tereza Wanner, Christoph |
author_sort | Cairns, Tereza |
collection | PubMed |
description | Despite several attempts at setting up a standardized disease severity score for Fabry disease in the past, none have been established in routine clinical practice due to the multisystem nature and complexity of this inherited enzyme deficiency disorder. In this issue, Mignani et al. report a large multicentre application of the FASTEX, an online tool to assess disease progress over time that offers simple data inputting and graphic illustration of disease progression or stabilization. Mignani et al. succeeded in validating the tool in a large cohort of Fabry patients, including females and non-classical phenotypes, building on the first FASTEX introduction in 2016. We report on our own practical experience with the tool and comment on some limiting factors in its use as well as possible future prospects. |
format | Online Article Text |
id | pubmed-6366128 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-63661282019-02-11 Will the FAbry STabilization indEX make its way to everyday clinical practice? Cairns, Tereza Wanner, Christoph Clin Kidney J Familial Nephropathies Despite several attempts at setting up a standardized disease severity score for Fabry disease in the past, none have been established in routine clinical practice due to the multisystem nature and complexity of this inherited enzyme deficiency disorder. In this issue, Mignani et al. report a large multicentre application of the FASTEX, an online tool to assess disease progress over time that offers simple data inputting and graphic illustration of disease progression or stabilization. Mignani et al. succeeded in validating the tool in a large cohort of Fabry patients, including females and non-classical phenotypes, building on the first FASTEX introduction in 2016. We report on our own practical experience with the tool and comment on some limiting factors in its use as well as possible future prospects. Oxford University Press 2018-12-24 /pmc/articles/PMC6366128/ /pubmed/30747153 http://dx.doi.org/10.1093/ckj/sfy126 Text en © The Author(s) 2018. Published by Oxford University Press on behalf of ERA-EDTA. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Familial Nephropathies Cairns, Tereza Wanner, Christoph Will the FAbry STabilization indEX make its way to everyday clinical practice? |
title | Will the FAbry STabilization indEX make its way to everyday clinical practice? |
title_full | Will the FAbry STabilization indEX make its way to everyday clinical practice? |
title_fullStr | Will the FAbry STabilization indEX make its way to everyday clinical practice? |
title_full_unstemmed | Will the FAbry STabilization indEX make its way to everyday clinical practice? |
title_short | Will the FAbry STabilization indEX make its way to everyday clinical practice? |
title_sort | will the fabry stabilization index make its way to everyday clinical practice? |
topic | Familial Nephropathies |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6366128/ https://www.ncbi.nlm.nih.gov/pubmed/30747153 http://dx.doi.org/10.1093/ckj/sfy126 |
work_keys_str_mv | AT cairnstereza willthefabrystabilizationindexmakeitswaytoeverydayclinicalpractice AT wannerchristoph willthefabrystabilizationindexmakeitswaytoeverydayclinicalpractice |