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Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now

2017-06-11Journal article Open access
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dc.contributor.authorBeirão, I.
dc.contributor.authorCabrita, A.
dc.contributor.authorTorres, M.
dc.contributor.authorSilva, F.
dc.contributor.authorAguiar, P.
dc.contributor.authorLaranjeira, F.
dc.contributor.authorGomes, A.
dc.date.accessioned2018-07-05T12:58:10Z
dc.date.available2018-07-05T12:58:10Z
dc.date.issued2017-06-11
dc.description.abstractAnderson-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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationDiseases. 2017 Jun 11;5(2). pii: E15pt_PT
dc.identifier.doi10.3390/diseases5020015pt_PT
dc.identifier.issn2079-9721
dc.identifier.urihttp://hdl.handle.net/10400.16/2197
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relation.publisherversionhttp://www.mdpi.com/2079-9721/5/2/15pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectAnderson–Fabry diseasept_PT
dc.subjectLyso-Gb3pt_PT
dc.subjectbiomarkerspt_PT
dc.subjectcardiac involvementpt_PT
dc.subjectcerebrovascular involvementpt_PT
dc.subjectdiagnosispt_PT
dc.subjectimagingpt_PT
dc.subjectmetabolomicspt_PT
dc.subjectproteomicspt_PT
dc.subjectrenal involvementpt_PT
dc.titleBiomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Nowpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceSwitzerlandpt_PT
oaire.citation.issue2pt_PT
oaire.citation.startPage15pt_PT
oaire.citation.titleDiseasespt_PT
oaire.citation.volume5pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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