Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1590/2326-4594-JIEMS-2021-0028 http://hdl.handle.net/11449/218212 |
Resumo: | Research on the genetics, epidemiology, and clinical manifestations of Fabry disease (FD) has increased significantly in recent years. However, some relevant clinical questions still need to be answered to develop better approaches to patient management. This review focuses on answering specific questions raised by Brazilian experts based on their experience in diagnosing and managing patients with FD. The questions are as follows: What is the role of globotriaosylsphingosine in diagnosis? How does one proceed with the diagnosis if there is a variant of unknown significance? What are the earliest and most reliable markers of renal, cardiac, and neurological impairment? What is the prevalence of FD in patients with cryptogenic stroke? What is the average delay in diagnosis in patients with FD? Based on these questions, our objective was to highlight epidemiological, diagnostic, and clinical aspects relating to the literature in the FD field. |
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Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectivesFabry diseaserare diseasediagnostic.Research on the genetics, epidemiology, and clinical manifestations of Fabry disease (FD) has increased significantly in recent years. However, some relevant clinical questions still need to be answered to develop better approaches to patient management. This review focuses on answering specific questions raised by Brazilian experts based on their experience in diagnosing and managing patients with FD. The questions are as follows: What is the role of globotriaosylsphingosine in diagnosis? How does one proceed with the diagnosis if there is a variant of unknown significance? What are the earliest and most reliable markers of renal, cardiac, and neurological impairment? What is the prevalence of FD in patients with cryptogenic stroke? What is the average delay in diagnosis in patients with FD? Based on these questions, our objective was to highlight epidemiological, diagnostic, and clinical aspects relating to the literature in the FD field.Universidade Federal do Rio Grande do Sul, Departamento de GenéticaHospital de Clínicas de Porto Alegre, Serviço de Genética MédicaInstituto Hospital de Base do Distrito FederalUniversidade Estadual Paulista, Departamento de Medicina InternaHospital Infantil Albert Sabin, Secretária de Saúde do Estado do CearáUniversidade Estadual do CearáUniversidade Federal de São Paulo, Escola Paulista de MedicinaUniversidade de São Paulo (HCFMUSP), Hospital das Clínicas da Faculdade de MedicinaTakeda Pharmaceutical CompanyQuíron ReumatologiaUniversidade Estadual Paulista, Departamento de Medicina InternaLatin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)Universidade Federal do Rio Grande do SulHospital de Clínicas de Porto AlegreInstituto Hospital de Base do Distrito FederalUniversidade Estadual Paulista (UNESP)Hospital Infantil Albert SabinUniversidade Estadual do CearáUniversidade Federal de São PauloUniversidade de São Paulo (USP)Takeda Pharmaceutical CompanyQuíron ReumatologiaGiugliani, RobertoMarques, SandraAndrade, Luis G. M. De [UNESP]Pessoa, AndréVaisbich, Maria H.Blum, AngélicaTenório, FernandaRosa, Nilton S2022-04-28T16:56:20Z2022-04-28T16:56:20Z2022-03-07info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article-application/pdfhttp://dx.doi.org/10.1590/2326-4594-JIEMS-2021-0028Journal of Inborn Errors of Metabolism and Screening. Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT), v. 10, p. -, 2022.2326-4594http://hdl.handle.net/11449/21821210.1590/2326-4594-JIEMS-2021-0028S2326-45942022000100403S2326-45942022000100403.pdfSciELOreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengJournal of Inborn Errors of Metabolism and Screeninginfo:eu-repo/semantics/openAccess2023-10-09T06:02:11Zoai:repositorio.unesp.br:11449/218212Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462023-10-09T06:02:11Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives |
title |
Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives |
spellingShingle |
Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives Giugliani, Roberto Fabry disease rare disease diagnostic. |
title_short |
Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives |
title_full |
Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives |
title_fullStr |
Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives |
title_full_unstemmed |
Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives |
title_sort |
Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives |
author |
Giugliani, Roberto |
author_facet |
Giugliani, Roberto Marques, Sandra Andrade, Luis G. M. De [UNESP] Pessoa, André Vaisbich, Maria H. Blum, Angélica Tenório, Fernanda Rosa, Nilton S |
author_role |
author |
author2 |
Marques, Sandra Andrade, Luis G. M. De [UNESP] Pessoa, André Vaisbich, Maria H. Blum, Angélica Tenório, Fernanda Rosa, Nilton S |
author2_role |
author author author author author author author |
dc.contributor.none.fl_str_mv |
Universidade Federal do Rio Grande do Sul Hospital de Clínicas de Porto Alegre Instituto Hospital de Base do Distrito Federal Universidade Estadual Paulista (UNESP) Hospital Infantil Albert Sabin Universidade Estadual do Ceará Universidade Federal de São Paulo Universidade de São Paulo (USP) Takeda Pharmaceutical Company Quíron Reumatologia |
dc.contributor.author.fl_str_mv |
Giugliani, Roberto Marques, Sandra Andrade, Luis G. M. De [UNESP] Pessoa, André Vaisbich, Maria H. Blum, Angélica Tenório, Fernanda Rosa, Nilton S |
dc.subject.por.fl_str_mv |
Fabry disease rare disease diagnostic. |
topic |
Fabry disease rare disease diagnostic. |
description |
Research on the genetics, epidemiology, and clinical manifestations of Fabry disease (FD) has increased significantly in recent years. However, some relevant clinical questions still need to be answered to develop better approaches to patient management. This review focuses on answering specific questions raised by Brazilian experts based on their experience in diagnosing and managing patients with FD. The questions are as follows: What is the role of globotriaosylsphingosine in diagnosis? How does one proceed with the diagnosis if there is a variant of unknown significance? What are the earliest and most reliable markers of renal, cardiac, and neurological impairment? What is the prevalence of FD in patients with cryptogenic stroke? What is the average delay in diagnosis in patients with FD? Based on these questions, our objective was to highlight epidemiological, diagnostic, and clinical aspects relating to the literature in the FD field. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-04-28T16:56:20Z 2022-04-28T16:56:20Z 2022-03-07 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1590/2326-4594-JIEMS-2021-0028 Journal of Inborn Errors of Metabolism and Screening. Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT), v. 10, p. -, 2022. 2326-4594 http://hdl.handle.net/11449/218212 10.1590/2326-4594-JIEMS-2021-0028 S2326-45942022000100403 S2326-45942022000100403.pdf |
url |
http://dx.doi.org/10.1590/2326-4594-JIEMS-2021-0028 http://hdl.handle.net/11449/218212 |
identifier_str_mv |
Journal of Inborn Errors of Metabolism and Screening. Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT), v. 10, p. -, 2022. 2326-4594 10.1590/2326-4594-JIEMS-2021-0028 S2326-45942022000100403 S2326-45942022000100403.pdf |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Journal of Inborn Errors of Metabolism and Screening |
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 |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
publisher.none.fl_str_mv |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
dc.source.none.fl_str_mv |
SciELO reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
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1799964489608593408 |