Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease

Fabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. From 2001, enzyme replacement therapies with agalsidase alfa and beta have been available. In this letter we underline t...

Descripción completa

Detalles Bibliográficos
Autores principales: Mauhin, Wladimir, Lidove, Olivier, Benveniste, Olivier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322341/
https://www.ncbi.nlm.nih.gov/pubmed/30616652
http://dx.doi.org/10.1186/s13023-018-0979-z
_version_ 1783385603564371968
author Mauhin, Wladimir
Lidove, Olivier
Benveniste, Olivier
author_facet Mauhin, Wladimir
Lidove, Olivier
Benveniste, Olivier
author_sort Mauhin, Wladimir
collection PubMed
description Fabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. From 2001, enzyme replacement therapies with agalsidase alfa and beta have been available. In this letter we underline the different clinical and technical considerations the readers have to be aware of to interpret the results of studies dealing with Fabry disease and anti-agalsidase antibodies. We reaffirm that antibodies preferentially develop in the severe classic Fabry phenotype, which can mislead into interpreting that antibodies are associated with much severe clinical events.
format Online
Article
Text
id pubmed-6322341
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-63223412019-01-10 Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease Mauhin, Wladimir Lidove, Olivier Benveniste, Olivier Orphanet J Rare Dis Letter to the Editor Fabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. From 2001, enzyme replacement therapies with agalsidase alfa and beta have been available. In this letter we underline the different clinical and technical considerations the readers have to be aware of to interpret the results of studies dealing with Fabry disease and anti-agalsidase antibodies. We reaffirm that antibodies preferentially develop in the severe classic Fabry phenotype, which can mislead into interpreting that antibodies are associated with much severe clinical events. BioMed Central 2019-01-07 /pmc/articles/PMC6322341/ /pubmed/30616652 http://dx.doi.org/10.1186/s13023-018-0979-z Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Letter to the Editor
Mauhin, Wladimir
Lidove, Olivier
Benveniste, Olivier
Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease
title Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease
title_full Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease
title_fullStr Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease
title_full_unstemmed Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease
title_short Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease
title_sort of the importance of the clinical phenotypes in the interpretation of the studies dealing with fabry disease
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322341/
https://www.ncbi.nlm.nih.gov/pubmed/30616652
http://dx.doi.org/10.1186/s13023-018-0979-z
work_keys_str_mv AT mauhinwladimir oftheimportanceoftheclinicalphenotypesintheinterpretationofthestudiesdealingwithfabrydisease
AT lidoveolivier oftheimportanceoftheclinicalphenotypesintheinterpretationofthestudiesdealingwithfabrydisease
AT benvenisteolivier oftheimportanceoftheclinicalphenotypesintheinterpretationofthestudiesdealingwithfabrydisease

Ejemplares similares