Biomarkers in Fabry Disease: Implications for Clinical Diagnosis and Follow-up
Biomarcadores; Fenotipo clásico; Enfermedad de Fabry
| Autores: | ; ; ; ; ; ; ; ; ; ; ; ; ; |
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| Tipo de documento: | Artículo |
| Estado: | Published version |
| Fecha de publicación: | 2021 |
| País: | España |
| Institución: | Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
| Repositorio: | Recercat. Dipósit de la Recerca de Catalunya |
| OAI Identifier: | oai:recercat.cat:11351/6740 |
| Acceso en línea: | https://hdl.handle.net/11351/6740 |
| Nivel de acceso: | Acceso abierto |
| Palabra clave: | Enzims - Regulació Marcadors bioquímics Metabolisme, Errors congènits del - Diagnòstic ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Drug Therapy::Enzyme Therapy::Enzyme Replacement Therapy DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Genetic Diseases, X-Linked::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Fabry Disease Other subheadings::Other subheadings::/diagnosis CHEMICALS AND DRUGS::Biological Factors::Biomarkers ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades genéticas ligadas al cromosoma X::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedad de Fabry Otros calificadores::Otros calificadores::/diagnóstico TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::farmacoterapia::terapia enzimática::tratamiento de sustitución enzimática COMPUESTOS QUÍMICOS Y DROGAS::factores biológicos::biomarcadores |
| _version_ | 1878736360497479680 |
|---|---|
| author | Carnicer Cáceres, Clara |
| author2 | Arranz Amo, José Antonio Cea Arestín, Cristina Camprodon Gomez, Maria Moreno Martinez, David Lucas del Pozo, Sara Moltó Abad, Marc Miquel Agraz Pamplona, Irene Hernández Vara, Jorge Armengol Bellapart, Mar del Toro Riera, Mireia Pintos Morell, Guillem Rodríguez Palomares, Jose Fernando Tigri-Santiña, Ariadna |
| author2_role | author author author author author author author author author author author author author |
| author_browse | Agraz Pamplona, Irene Armengol Bellapart, Mar Arranz Amo, José Antonio Camprodon Gomez, Maria Carnicer Cáceres, Clara Cea Arestín, Cristina Hernández Vara, Jorge Lucas del Pozo, Sara Moltó Abad, Marc Miquel Moreno Martinez, David Pintos Morell, Guillem Rodríguez Palomares, Jose Fernando Tigri-Santiña, Ariadna del Toro Riera, Mireia |
| author_facet | Carnicer Cáceres, Clara Arranz Amo, José Antonio Cea Arestín, Cristina Camprodon Gomez, Maria Moreno Martinez, David Lucas del Pozo, Sara Moltó Abad, Marc Miquel Agraz Pamplona, Irene Hernández Vara, Jorge Armengol Bellapart, Mar del Toro Riera, Mireia Pintos Morell, Guillem Rodríguez Palomares, Jose Fernando Tigri-Santiña, Ariadna |
| author_role | author |
| collection | Recercat. Dipósit de la Recerca de Catalunya |
| description | Biomarcadores; Fenotipo clásico; Enfermedad de Fabry |
| eu_rights_str_mv | openAccess |
| format | article |
| id | ES_8da9145fbd2ab2ca4bcc710bd06dcbe3 |
| institution | Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
| instname_str | Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
| network_acronym_str | ES |
| network_name_str | España |
| oai_identifier_str | oai:recercat.cat:11351/6740 |
| publishDate | 2021 |
| publishDateSort | 2021 |
| publisher | MDPI |
| publisherStr | MDPI |
| reponame_str | Recercat. Dipósit de la Recerca de Catalunya |
| spelling | Biomarkers in Fabry Disease: Implications for Clinical Diagnosis and Follow-up Carnicer Cáceres, Clara Arranz Amo, José Antonio Cea Arestín, Cristina Camprodon Gomez, Maria Moreno Martinez, David Lucas del Pozo, Sara Moltó Abad, Marc Miquel Agraz Pamplona, Irene Hernández Vara, Jorge Armengol Bellapart, Mar del Toro Riera, Mireia Pintos Morell, Guillem Rodríguez Palomares, Jose Fernando Tigri-Santiña, Ariadna Enzims - Regulació Marcadors bioquímics Metabolisme, Errors congènits del - Diagnòstic ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Drug Therapy::Enzyme Therapy::Enzyme Replacement Therapy DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Genetic Diseases, X-Linked::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Fabry Disease Other subheadings::Other subheadings::/diagnosis CHEMICALS AND DRUGS::Biological Factors::Biomarkers ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades genéticas ligadas al cromosoma X::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedad de Fabry Otros calificadores::Otros calificadores::/diagnóstico TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::farmacoterapia::terapia enzimática::tratamiento de sustitución enzimática COMPUESTOS QUÍMICOS Y DROGAS::factores biológicos::biomarcadores Biomarcadores; Fenotipo clásico; Enfermedad de Fabry Biomarkers; Classic phenotype; Fabry disease Biomarcadors; Fenotip clàssic; Malaltia de Fabry 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. The research has not received any external funding. MDPI https://hdl.handle.net/11351/6740 |
| spellingShingle | Biomarkers in Fabry Disease: Implications for Clinical Diagnosis and Follow-up Carnicer Cáceres, Clara Enzims - Regulació Marcadors bioquímics Metabolisme, Errors congènits del - Diagnòstic ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Drug Therapy::Enzyme Therapy::Enzyme Replacement Therapy DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Genetic Diseases, X-Linked::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Fabry Disease Other subheadings::Other subheadings::/diagnosis CHEMICALS AND DRUGS::Biological Factors::Biomarkers ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades genéticas ligadas al cromosoma X::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedad de Fabry Otros calificadores::Otros calificadores::/diagnóstico TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::farmacoterapia::terapia enzimática::tratamiento de sustitución enzimática COMPUESTOS QUÍMICOS Y DROGAS::factores biológicos::biomarcadores |
| status_str | publishedVersion |
| title | 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_short | Biomarkers in Fabry Disease: Implications for Clinical Diagnosis and Follow-up |
| title_sort | Biomarkers in Fabry Disease: Implications for Clinical Diagnosis and Follow-up |
| topic | Enzims - Regulació Marcadors bioquímics Metabolisme, Errors congènits del - Diagnòstic ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Drug Therapy::Enzyme Therapy::Enzyme Replacement Therapy DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Genetic Diseases, X-Linked::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Fabry Disease Other subheadings::Other subheadings::/diagnosis CHEMICALS AND DRUGS::Biological Factors::Biomarkers ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades genéticas ligadas al cromosoma X::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedad de Fabry Otros calificadores::Otros calificadores::/diagnóstico TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::farmacoterapia::terapia enzimática::tratamiento de sustitución enzimática COMPUESTOS QUÍMICOS Y DROGAS::factores biológicos::biomarcadores |
| topic_facet | Enzims - Regulació Marcadors bioquímics Metabolisme, Errors congènits del - Diagnòstic ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Drug Therapy::Enzyme Therapy::Enzyme Replacement Therapy DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Genetic Diseases, X-Linked::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Fabry Disease Other subheadings::Other subheadings::/diagnosis CHEMICALS AND DRUGS::Biological Factors::Biomarkers ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades genéticas ligadas al cromosoma X::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedad de Fabry Otros calificadores::Otros calificadores::/diagnóstico TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::farmacoterapia::terapia enzimática::tratamiento de sustitución enzimática COMPUESTOS QUÍMICOS Y DROGAS::factores biológicos::biomarcadores |
| url | https://hdl.handle.net/11351/6740 |