Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.16/2197 |
Resumo: | Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus. Lyso-GB3 is a valuable biomarker to establish the diagnosis. Proteinuria and creatinine are the most valuable to detect renal damage. Troponin I and high-sensitivity assays for cardiac troponin T can identify patients with cardiac lesions, but new techniques of cardiac imaging are essential to detect incipient damage. Specific cerebrovascular imaging findings are present in AFD patients. Techniques as metabolomics and proteomics have been developed in order to find an AFD fingerprint. Lyso-GB3 is important for evaluating the pathogenic mutations and monitoring the response to treatment. Many biomarkers can detect renal, cardiac and cerebrovascular involvement, but none of these have proved to be important to monitoring the response to treatment. Imaging features are preferred in order to find cardiac and cerebrovascular compromise in AFD patients. |
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Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know NowAnderson–Fabry diseaseLyso-Gb3biomarkerscardiac involvementcerebrovascular involvementdiagnosisimagingmetabolomicsproteomicsrenal involvementAnderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus. Lyso-GB3 is a valuable biomarker to establish the diagnosis. Proteinuria and creatinine are the most valuable to detect renal damage. Troponin I and high-sensitivity assays for cardiac troponin T can identify patients with cardiac lesions, but new techniques of cardiac imaging are essential to detect incipient damage. Specific cerebrovascular imaging findings are present in AFD patients. Techniques as metabolomics and proteomics have been developed in order to find an AFD fingerprint. Lyso-GB3 is important for evaluating the pathogenic mutations and monitoring the response to treatment. Many biomarkers can detect renal, cardiac and cerebrovascular involvement, but none of these have proved to be important to monitoring the response to treatment. Imaging features are preferred in order to find cardiac and cerebrovascular compromise in AFD patients.MDPIRepositório Científico do Centro Hospitalar Universitário de Santo AntónioBeirão, I.Cabrita, A.Torres, M.Silva, F.Aguiar, P.Laranjeira, F.Gomes, A.2018-07-05T12:58:10Z2017-06-112017-06-11T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/2197engDiseases. 2017 Jun 11;5(2). pii: E152079-972110.3390/diseases5020015info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-10-20T10:59:29Zoai:repositorio.chporto.pt:10400.16/2197Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:38:25.468571Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now |
title |
Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now |
spellingShingle |
Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now Beirão, I. Anderson–Fabry disease Lyso-Gb3 biomarkers cardiac involvement cerebrovascular involvement diagnosis imaging metabolomics proteomics renal involvement |
title_short |
Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now |
title_full |
Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now |
title_fullStr |
Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now |
title_full_unstemmed |
Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now |
title_sort |
Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now |
author |
Beirão, I. |
author_facet |
Beirão, I. Cabrita, A. Torres, M. Silva, F. Aguiar, P. Laranjeira, F. Gomes, A. |
author_role |
author |
author2 |
Cabrita, A. Torres, M. Silva, F. Aguiar, P. Laranjeira, F. Gomes, A. |
author2_role |
author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Centro Hospitalar Universitário de Santo António |
dc.contributor.author.fl_str_mv |
Beirão, I. Cabrita, A. Torres, M. Silva, F. Aguiar, P. Laranjeira, F. Gomes, A. |
dc.subject.por.fl_str_mv |
Anderson–Fabry disease Lyso-Gb3 biomarkers cardiac involvement cerebrovascular involvement diagnosis imaging metabolomics proteomics renal involvement |
topic |
Anderson–Fabry disease Lyso-Gb3 biomarkers cardiac involvement cerebrovascular involvement diagnosis imaging metabolomics proteomics renal involvement |
description |
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus. Lyso-GB3 is a valuable biomarker to establish the diagnosis. Proteinuria and creatinine are the most valuable to detect renal damage. Troponin I and high-sensitivity assays for cardiac troponin T can identify patients with cardiac lesions, but new techniques of cardiac imaging are essential to detect incipient damage. Specific cerebrovascular imaging findings are present in AFD patients. Techniques as metabolomics and proteomics have been developed in order to find an AFD fingerprint. Lyso-GB3 is important for evaluating the pathogenic mutations and monitoring the response to treatment. Many biomarkers can detect renal, cardiac and cerebrovascular involvement, but none of these have proved to be important to monitoring the response to treatment. Imaging features are preferred in order to find cardiac and cerebrovascular compromise in AFD patients. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-06-11 2017-06-11T00:00:00Z 2018-07-05T12:58:10Z |
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://hdl.handle.net/10400.16/2197 |
url |
http://hdl.handle.net/10400.16/2197 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Diseases. 2017 Jun 11;5(2). pii: E15 2079-9721 10.3390/diseases5020015 |
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info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
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application/pdf |
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MDPI |
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MDPI |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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