Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up
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 pat...
| Autores: | , , , , , , , , , , , , , |
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| Formato: | artículo |
| Fecha de publicación: | 2021 |
| País: | España |
| Recursos: | Universitat Autònoma de Barcelona |
| Repositorio: | Dipòsit Digital de Documents de la UAB |
| Idioma: | inglés |
| OAI Identifier: | oai:ddd.uab.cat:255530 |
| Acesso em linha: | https://ddd.uab.cat/record/255530 https://dx.doi.org/urn:doi:10.3390/jcm10081664 |
| Access Level: | acceso abierto |
| Palavra-chave: | Fabry disease Classic phenotype Late-onset phenotype Biomarkers Cardiomyopathy Chronic kidney disease Vasculopathy Lyso-gb3 Gb3 Inflammatory response |
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oai:ddd.uab.cat:255530 |
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Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up Carnicer-Cáceres, Clara Arranz-Amo, Jose Antonio|||0000-0002-2236-4185 Cea-Arestin, Cristina|||0000-0003-4939-3645 Camprodon Gomez, Maria|||0000-0002-2359-3238 Moreno-Martinez, David|||0000-0001-9777-7796 Lucas-del-Pozo, Sara|||0000-0002-5431-8204 Moltó Abad, Marc|||0000-0002-6364-4570 Tigri-Santiña, Ariadna|||0000-0003-2765-0065 Agraz Pamplona, Irene|||0000-0002-4223-6834 Rodríguez Palomares, José F.|||0000-0002-7229-9780 Hernández-Vara, Jorge|||0000-0002-9129-5224 Armengol-Bellapart, Mar|||0000-0002-8294-6566 Del Toro, Mireia|||0000-0002-8163-1853 Pintos-Morell, Guillem|||0000-0002-9347-2386 Fabry disease Classic phenotype Late-onset phenotype Biomarkers Cardiomyopathy Chronic kidney disease Vasculopathy Lyso-gb3 Gb3 Inflammatory response 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. https://ddd.uab.cat/record/255530 https://dx.doi.org/urn:doi:10.3390/jcm10081664 |
| title |
Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up |
| spellingShingle |
Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up Carnicer-Cáceres, Clara Fabry disease Classic phenotype Late-onset phenotype Biomarkers Cardiomyopathy Chronic kidney disease Vasculopathy Lyso-gb3 Gb3 Inflammatory response |
| title_short |
Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up |
| title_full |
Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up |
| title_fullStr |
Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up |
| title_full_unstemmed |
Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up |
| title_sort |
Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up |
| author |
Carnicer-Cáceres, Clara |
| author_facet |
Carnicer-Cáceres, Clara Arranz-Amo, Jose Antonio|||0000-0002-2236-4185 Cea-Arestin, Cristina|||0000-0003-4939-3645 Camprodon Gomez, Maria|||0000-0002-2359-3238 Moreno-Martinez, David|||0000-0001-9777-7796 Lucas-del-Pozo, Sara|||0000-0002-5431-8204 Moltó Abad, Marc|||0000-0002-6364-4570 Tigri-Santiña, Ariadna|||0000-0003-2765-0065 Agraz Pamplona, Irene|||0000-0002-4223-6834 Rodríguez Palomares, José F.|||0000-0002-7229-9780 Hernández-Vara, Jorge|||0000-0002-9129-5224 Armengol-Bellapart, Mar|||0000-0002-8294-6566 Del Toro, Mireia|||0000-0002-8163-1853 Pintos-Morell, Guillem|||0000-0002-9347-2386 |
| author_role |
author |
| author2 |
Arranz-Amo, Jose Antonio|||0000-0002-2236-4185 Cea-Arestin, Cristina|||0000-0003-4939-3645 Camprodon Gomez, Maria|||0000-0002-2359-3238 Moreno-Martinez, David|||0000-0001-9777-7796 Lucas-del-Pozo, Sara|||0000-0002-5431-8204 Moltó Abad, Marc|||0000-0002-6364-4570 Tigri-Santiña, Ariadna|||0000-0003-2765-0065 Agraz Pamplona, Irene|||0000-0002-4223-6834 Rodríguez Palomares, José F.|||0000-0002-7229-9780 Hernández-Vara, Jorge|||0000-0002-9129-5224 Armengol-Bellapart, Mar|||0000-0002-8294-6566 Del Toro, Mireia|||0000-0002-8163-1853 Pintos-Morell, Guillem|||0000-0002-9347-2386 |
| author2_role |
author author author author author author author author author author author author author |
| topic |
Fabry disease Classic phenotype Late-onset phenotype Biomarkers Cardiomyopathy Chronic kidney disease Vasculopathy Lyso-gb3 Gb3 Inflammatory response |
| topic_facet |
Fabry disease Classic phenotype Late-onset phenotype Biomarkers Cardiomyopathy Chronic kidney disease Vasculopathy Lyso-gb3 Gb3 Inflammatory response |
| description |
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. |
| publishDate |
2021 |
| format |
article |
| url |
https://ddd.uab.cat/record/255530 https://dx.doi.org/urn:doi:10.3390/jcm10081664 |
| language |
eng |
| eu_rights_str_mv |
openAccess |
| institution |
Universitat Autònoma de Barcelona |
| collection |
Dipòsit Digital de Documents de la UAB |
| reponame_str |
Dipòsit Digital de Documents de la UAB |
| instname_str |
Universitat Autònoma de Barcelona |
| _version_ |
1878437368186273792 |
| publishDateSort |
2021 |
| author_browse |
Agraz Pamplona, Irene|||0000-0002-4223-6834 Armengol-Bellapart, Mar|||0000-0002-8294-6566 Arranz-Amo, Jose Antonio|||0000-0002-2236-4185 Camprodon Gomez, Maria|||0000-0002-2359-3238 Carnicer-Cáceres, Clara Cea-Arestin, Cristina|||0000-0003-4939-3645 Del Toro, Mireia|||0000-0002-8163-1853 Hernández-Vara, Jorge|||0000-0002-9129-5224 Lucas-del-Pozo, Sara|||0000-0002-5431-8204 Moltó Abad, Marc|||0000-0002-6364-4570 Moreno-Martinez, David|||0000-0001-9777-7796 Pintos-Morell, Guillem|||0000-0002-9347-2386 Rodríguez Palomares, José F.|||0000-0002-7229-9780 Tigri-Santiña, Ariadna|||0000-0003-2765-0065 |
| score |
6.9303427 |