Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.16/2197
Título: Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now
Autor: Beirão, I.
Cabrita, A.
Torres, M.
Silva, F.
Aguiar, P.
Laranjeira, F.
Gomes, A.
Palavras-chave: Anderson–Fabry disease
cardiac involvement
cerebrovascular involvement
renal involvement
Data: 11-Jun-2017
Editora: MDPI
Citação: Diseases. 2017 Jun 11;5(2). pii: E15
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.
Peer review: yes
URI: http://hdl.handle.net/10400.16/2197
DOI: 10.3390/diseases5020015
ISSN: 2079-9721
Versão do Editor: http://www.mdpi.com/2079-9721/5/2/15
Aparece nas colecções:CGMDJM - Artigos publicados em revistas indexadas na Medline
SNEF - Artigos publicados em revistas indexadas na Medline

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