Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up
Carnicer-Cáceres, Clara (Hospital Universitari Vall d'Hebron)
Arranz-Amo, Jose Antonio (Hospital Universitari Vall d'Hebron)
Cea-Arestin, Cristina (Hospital Universitari Vall d'Hebron)
Camprodon-Gomez, Maria (Hospital Universitari Vall d'Hebron)
Moreno-Martinez, David (Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust and University College London, London WC1E 6BT, UK)
Lucas-Del-Pozo, Sara (UCL Institute of Neurology (Regne Unit))
Moltó Abad, Marc (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina)
Tigri-Santiña, Ariadna (Hospital Universitari Vall d'Hebron)
Agraz Pamplona, Irene (Hospital Universitari Vall d'Hebron)
Rodriguez-Palomares, Jose F.. (Hospital Universitari Vall d'Hebron)
Hernández-Vara, Jorge (Hospital Universitari Vall d'Hebron)
Armengol-Bellapart, Mar (Hospital Universitari Vall d'Hebron)
Del Toro, Mireia (Hospital Universitari Vall d'Hebron)
Pintos-Morell, Guillem (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Universitat Autònoma de Barcelona

Data:	2021
Resum:	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.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Fabry disease ; Classic phenotype ; Late-onset phenotype ; Biomarkers ; Cardiomyopathy ; Chronic kidney disease ; Vasculopathy ; Lyso-gb3 ; Gb3 ; Inflammatory response
Publicat a:	Journal of clinical medicine, Vol. 10 (april 2021) , ISSN 2077-0383

DOI: 10.3390/jcm10081664
PMID: 33924567

18 p, 2.3 MB

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