Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up.

Autor: Carnicer-Cáceres C; Laboratory of Inborn Errors of Metabolism, Laboratoris Clínics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Arranz-Amo JA; Laboratory of Inborn Errors of Metabolism, Laboratoris Clínics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Cea-Arestin C; Laboratory of Inborn Errors of Metabolism, Laboratoris Clínics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Camprodon-Gomez M; Department of Internal Medicine, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.; Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Moreno-Martinez D; Department of Internal Medicine, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.; Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.; Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust and University College London, London WC1E 6BT, UK., Lucas-Del-Pozo S; Neurodegenerative Diseases Laboratory, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.; Department of Neurology, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Moltó-Abad M; Functional Validation & Preclinical Research, Drug Delivery & Targeting Group, CIBIM-Nanomedicine, Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.; Networking Research Center on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), 08035 Barcelona, Spain., Tigri-Santiña A; Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Agraz-Pamplona I; Department of Nephrology, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Rodriguez-Palomares JF; Department of Cardiology, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Hernández-Vara J; Neurodegenerative Diseases Laboratory, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.; Department of Neurology, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Armengol-Bellapart M; Neurodegenerative Diseases Laboratory, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.; Department of Neurology, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Del-Toro-Riera M; Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.; Department of Pediatric Neurology, Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, 08035 Barcelona, Spain., Pintos-Morell G; Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.; Functional Validation & Preclinical Research, Drug Delivery & Targeting Group, CIBIM-Nanomedicine, Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
Jazyk: angličtina
Zdroj: Journal of clinical medicine [J Clin Med] 2021 Apr 13; Vol. 10 (8). Date of Electronic Publication: 2021 Apr 13.
DOI: 10.3390/jcm10081664
Abstrakt: Fabry disease (FD) is a lysosomal storage disorder caused by deficient alpha-galactosidase A activity in the lysosome due to mutations in the GLA gene, resulting in gradual accumulation of globotriaosylceramide and other derivatives in different tissues. Substrate accumulation promotes different pathogenic mechanisms in which several mediators could be implicated, inducing multiorgan lesions, mainly in the kidney, heart and nervous system, resulting in clinical manifestations of the disease. Enzyme replacement therapy was shown to delay disease progression, mainly if initiated early. However, a diagnosis in the early stages represents a clinical challenge, especially in patients with a non-classic phenotype, which prompts the search for biomarkers that help detect and predict the evolution of the disease. We have reviewed the mediators involved in different pathogenic mechanisms that were studied as potential biomarkers and can be easily incorporated into clinical practice. Some accumulation biomarkers seem to be useful to detect non-classic forms of the disease and could even improve diagnosis of female patients. The combination of such biomarkers with some response biomarkers, may be useful for early detection of organ injury. The incorporation of some biomarkers into clinical practice may increase the capacity of detection compared to that currently obtained with the established diagnostic markers and provide more information on the progression and prognosis of the disease.
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje