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: | 2021 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/245615 |
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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Giugliani, RobertoMarques, SandraAndrade, Luis Gustavo Modelli dePessoa, AndréVaisbich, Maria HelenaBlum, AngélicaTenório, FernandaRosa Neto, Nilton Salles2022-07-28T04:45:34Z20212326-4594http://hdl.handle.net/10183/245615001145341Research 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.application/pdfengJournal of inborn errors of metabolism & screening. Porto Alegre. Vol. 10 (2022), e20210028, 13 p.Doença de FabryDiagnósticoDoenças rarasRevisãoFabry diseaseRare diseaseDiagnosticClinical and diagnostic aspects of Fabry disease management : a narrative review with a particular focus on Brazilian experts’ perspectivesinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001145341.pdf.txt001145341.pdf.txtExtracted Texttext/plain64634http://www.lume.ufrgs.br/bitstream/10183/245615/2/001145341.pdf.txt054aa86081ca1c4f87241ed528e5910cMD52ORIGINAL001145341.pdfTexto completo (inglês)application/pdf359609http://www.lume.ufrgs.br/bitstream/10183/245615/1/001145341.pdf9a96c9d8e48e9f815b8a239d82b6a57aMD5110183/2456152022-07-29 04:51:01.418513oai:www.lume.ufrgs.br:10183/245615Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2022-07-29T07:51:01Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.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 Doença de Fabry Diagnóstico Doenças raras Revisão 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 Gustavo Modelli de Pessoa, André Vaisbich, Maria Helena Blum, Angélica Tenório, Fernanda Rosa Neto, Nilton Salles |
author_role |
author |
author2 |
Marques, Sandra Andrade, Luis Gustavo Modelli de Pessoa, André Vaisbich, Maria Helena Blum, Angélica Tenório, Fernanda Rosa Neto, Nilton Salles |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Giugliani, Roberto Marques, Sandra Andrade, Luis Gustavo Modelli de Pessoa, André Vaisbich, Maria Helena Blum, Angélica Tenório, Fernanda Rosa Neto, Nilton Salles |
dc.subject.por.fl_str_mv |
Doença de Fabry Diagnóstico Doenças raras Revisão |
topic |
Doença de Fabry Diagnóstico Doenças raras Revisão Fabry disease Rare disease Diagnostic |
dc.subject.eng.fl_str_mv |
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 |
2021 |
dc.date.issued.fl_str_mv |
2021 |
dc.date.accessioned.fl_str_mv |
2022-07-28T04:45:34Z |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/other |
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info:eu-repo/semantics/publishedVersion |
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article |
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publishedVersion |
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http://hdl.handle.net/10183/245615 |
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2326-4594 |
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001145341 |
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http://hdl.handle.net/10183/245615 |
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eng |
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eng |
dc.relation.ispartof.pt_BR.fl_str_mv |
Journal of inborn errors of metabolism & screening. Porto Alegre. Vol. 10 (2022), e20210028, 13 p. |
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openAccess |
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