Fabry disease: integrative aspects from diagnosis to treatment
Autor(a) principal: | |
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Data de Publicação: | 2024 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Brazilian Journal of Health Review |
Texto Completo: | https://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/67545 |
Resumo: | Aim: identify the main aspects of Fabry disease (FD) from clinical suspicion to diagnosis, its vascular and cellular effects, in addition to treatment. Methods: This study is an integrative review of the literature supported by the search for articles in databases, Pub Med, Lilacs, Scielo, journals, and websites, with the following descriptors “Fabry disease”, “Fabry Disease treatment”, “Agalsidase-β”, “Agalsidase-α”, “Migalatast”, “inflammatory biomarkers” and “oxidative stress”, using original research articles and reviews between the years 1991 and 2023. This bibliographic survey was carried out in the period 01/10/2022 to 20/04/2023. Results: From a total of 340 articles found, 85 articles were selected. Discussion: The natural history of FD appears to be very complex, with multisystemic involvement and phenotypic variability. The analysis of FD symptoms is essential to the early diagnosis, aiming for greater success in therapy and prognosis, ensuring better patients’ quality of life and survival. Conclusion: This review addresses the diagnosis and main therapeutic approaches to guide health professionals and researchers, and to stimulate the development of research on FD. |
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Fabry disease: integrative aspects from diagnosis to treatmentfabry diseasefabry disease treatmentlysosomal storage disorderAim: identify the main aspects of Fabry disease (FD) from clinical suspicion to diagnosis, its vascular and cellular effects, in addition to treatment. Methods: This study is an integrative review of the literature supported by the search for articles in databases, Pub Med, Lilacs, Scielo, journals, and websites, with the following descriptors “Fabry disease”, “Fabry Disease treatment”, “Agalsidase-β”, “Agalsidase-α”, “Migalatast”, “inflammatory biomarkers” and “oxidative stress”, using original research articles and reviews between the years 1991 and 2023. This bibliographic survey was carried out in the period 01/10/2022 to 20/04/2023. Results: From a total of 340 articles found, 85 articles were selected. Discussion: The natural history of FD appears to be very complex, with multisystemic involvement and phenotypic variability. The analysis of FD symptoms is essential to the early diagnosis, aiming for greater success in therapy and prognosis, ensuring better patients’ quality of life and survival. Conclusion: This review addresses the diagnosis and main therapeutic approaches to guide health professionals and researchers, and to stimulate the development of research on FD.Brazilian Journals Publicações de Periódicos e Editora Ltda.2024-02-26info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/6754510.34119/bjhrv7n1-563Brazilian Journal of Health Review; Vol. 7 No. 1 (2024); 6915-6938Brazilian Journal of Health Review; Vol. 7 Núm. 1 (2024); 6915-6938Brazilian Journal of Health Review; v. 7 n. 1 (2024); 6915-69382595-6825reponame:Brazilian Journal of Health Reviewinstname:Federação das Indústrias do Estado do Paraná (FIEP)instacron:BJRHporhttps://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/67545/48077Gregório, Paulo Cézarda Cunha, Regiane StafimAzevedo, Carolina Amaral Buenodos Reis, Marlene AntôniaStinghen, Andréa Emília MarquesBarreto, Fellype de Carvalhoinfo:eu-repo/semantics/openAccess2024-02-27T14:30:14Zoai:ojs2.ojs.brazilianjournals.com.br:article/67545Revistahttp://www.brazilianjournals.com/index.php/BJHR/indexPRIhttps://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/oai|| brazilianjhr@gmail.com2595-68252595-6825opendoar:2024-02-27T14:30:14Brazilian Journal of Health Review - Federação das Indústrias do Estado do Paraná (FIEP)false |
dc.title.none.fl_str_mv |
Fabry disease: integrative aspects from diagnosis to treatment |
title |
Fabry disease: integrative aspects from diagnosis to treatment |
spellingShingle |
Fabry disease: integrative aspects from diagnosis to treatment Gregório, Paulo Cézar fabry disease fabry disease treatment lysosomal storage disorder |
title_short |
Fabry disease: integrative aspects from diagnosis to treatment |
title_full |
Fabry disease: integrative aspects from diagnosis to treatment |
title_fullStr |
Fabry disease: integrative aspects from diagnosis to treatment |
title_full_unstemmed |
Fabry disease: integrative aspects from diagnosis to treatment |
title_sort |
Fabry disease: integrative aspects from diagnosis to treatment |
author |
Gregório, Paulo Cézar |
author_facet |
Gregório, Paulo Cézar da Cunha, Regiane Stafim Azevedo, Carolina Amaral Bueno dos Reis, Marlene Antônia Stinghen, Andréa Emília Marques Barreto, Fellype de Carvalho |
author_role |
author |
author2 |
da Cunha, Regiane Stafim Azevedo, Carolina Amaral Bueno dos Reis, Marlene Antônia Stinghen, Andréa Emília Marques Barreto, Fellype de Carvalho |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Gregório, Paulo Cézar da Cunha, Regiane Stafim Azevedo, Carolina Amaral Bueno dos Reis, Marlene Antônia Stinghen, Andréa Emília Marques Barreto, Fellype de Carvalho |
dc.subject.por.fl_str_mv |
fabry disease fabry disease treatment lysosomal storage disorder |
topic |
fabry disease fabry disease treatment lysosomal storage disorder |
description |
Aim: identify the main aspects of Fabry disease (FD) from clinical suspicion to diagnosis, its vascular and cellular effects, in addition to treatment. Methods: This study is an integrative review of the literature supported by the search for articles in databases, Pub Med, Lilacs, Scielo, journals, and websites, with the following descriptors “Fabry disease”, “Fabry Disease treatment”, “Agalsidase-β”, “Agalsidase-α”, “Migalatast”, “inflammatory biomarkers” and “oxidative stress”, using original research articles and reviews between the years 1991 and 2023. This bibliographic survey was carried out in the period 01/10/2022 to 20/04/2023. Results: From a total of 340 articles found, 85 articles were selected. Discussion: The natural history of FD appears to be very complex, with multisystemic involvement and phenotypic variability. The analysis of FD symptoms is essential to the early diagnosis, aiming for greater success in therapy and prognosis, ensuring better patients’ quality of life and survival. Conclusion: This review addresses the diagnosis and main therapeutic approaches to guide health professionals and researchers, and to stimulate the development of research on FD. |
publishDate |
2024 |
dc.date.none.fl_str_mv |
2024-02-26 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/67545 10.34119/bjhrv7n1-563 |
url |
https://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/67545 |
identifier_str_mv |
10.34119/bjhrv7n1-563 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/67545/48077 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Brazilian Journals Publicações de Periódicos e Editora Ltda. |
publisher.none.fl_str_mv |
Brazilian Journals Publicações de Periódicos e Editora Ltda. |
dc.source.none.fl_str_mv |
Brazilian Journal of Health Review; Vol. 7 No. 1 (2024); 6915-6938 Brazilian Journal of Health Review; Vol. 7 Núm. 1 (2024); 6915-6938 Brazilian Journal of Health Review; v. 7 n. 1 (2024); 6915-6938 2595-6825 reponame:Brazilian Journal of Health Review instname:Federação das Indústrias do Estado do Paraná (FIEP) instacron:BJRH |
instname_str |
Federação das Indústrias do Estado do Paraná (FIEP) |
instacron_str |
BJRH |
institution |
BJRH |
reponame_str |
Brazilian Journal of Health Review |
collection |
Brazilian Journal of Health Review |
repository.name.fl_str_mv |
Brazilian Journal of Health Review - Federação das Indústrias do Estado do Paraná (FIEP) |
repository.mail.fl_str_mv |
|| brazilianjhr@gmail.com |
_version_ |
1797240043073437696 |