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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...

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Autores principales: Cairns, Tereza, Wanner, Christoph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
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.
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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
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