Next Article in Journal
Epigenetic Mechanisms of Tamoxifen Resistance in Luminal Breast Cancer
Previous Article in Journal
Targeting Metabolic Modulation and Mitochondrial Dysfunction in the Treatment of Heart Failure
Previous Article in Special Issue
The Spectrum of Neurological Manifestations Associated with Gaucher Disease
Article Menu

Export Article

Open AccessReview
Diseases 2017, 5(2), 15; doi:10.3390/diseases5020015

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

1
Service of Nephrology, Centro Hospitalar do Porto, 4099-001 Porto, Portugal
2
Biomedical Sciences Institute of Abel Salazar, University of Porto, 4050-313 Porto, Portugal
3
Service of Nephrology, Centro Hospitalar do Algarve, 8000-386 Faro, Portugal
4
Service of Cardiology, Centro Hospitalar do Médio Ave, 4780-371 Santo Tirso, Portugal
5
Service of Neurology, Centro Hospitalar e Universitário de Coimbra, 3000-375 Coimbra, Portugal
6
Internal Medicine Department—Hospital de Santa Maria/Centro Hospitalar Lisboa Norte, 1750-141 Lisboa, Portugal
7
Centro de Genética Médica Jacinto Magalhães, Centro Hospitalar do Porto, 4001-099 Porto, Portugal
8
Service of Nephrology, Centro Hospitalar de Vila Nova de Gaia/Espinho, 4434-502 Vila Nova de Gaia, Portugal
*
Author to whom correspondence should be addressed.
Academic Editor: Jose A. Sanchez-Alcazar
Received: 4 May 2017 / Revised: 6 June 2017 / Accepted: 7 June 2017 / Published: 11 June 2017
(This article belongs to the Collection Lysosomal Storage Diseases)
View Full-Text   |   Download PDF [290 KB, uploaded 13 June 2017]

Abstract

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. View Full-Text
Keywords: Anderson–Fabry disease; biomarkers; imaging; diagnosis; Lyso-Gb3; renal involvement; cardiac involvement; cerebrovascular involvement; proteomics; metabolomics Anderson–Fabry disease; biomarkers; imaging; diagnosis; Lyso-Gb3; renal involvement; cardiac involvement; cerebrovascular involvement; proteomics; metabolomics
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

Scifeed alert for new publications

Never miss any articles matching your research from any publisher
  • Get alerts for new papers matching your research
  • Find out the new papers from selected authors
  • Updated daily for 49'000+ journals and 6000+ publishers
  • Define your Scifeed now

SciFeed Share & Cite This Article

MDPI and ACS Style

Beirão, I.; Cabrita, A.; Torres, M.; Silva, F.; Aguiar, P.; Laranjeira, F.; Gomes, A.M. Biomarkers and Imaging Findings of Anderson–Fabry Disease—What We Know Now. Diseases 2017, 5, 15.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Diseases EISSN 2079-9721 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top