Enfermedad de Fabry. Una enfermedad renal crónica
Fabry disease belongs to the group of lysosomal diseases, rare pathologies of genetic origin, due to patho-genic mutations in genes that code for proteins, associated with the function of lysosomes. The methodology used for this research work is part of a bibliographic review of documentary type, si...
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| Language: | Spanish |
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2022
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| Online Access: | https://dialnet.unirioja.es/servlet/oaiart?codigo=8648132 |
| Source: | RECIMUNDO: Revista Científica de la Investigación y el Conocimiento, ISSN 2588-073X, Vol. 6, Nº. 4, 2022, pags. 279-287 |
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RECIMUNDO: Revista Científica de la Investigación y el Conocimiento, ISSN 2588-073X, Vol. 6, Nº. 4, 2022, pags. 279-287
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| language |
Spanish
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Enzimático
Fabri Renal Lisosomales Genes Enzymatic Fabri Renal Lysosomal Genes |
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Enzimático
Fabri Renal Lisosomales Genes Enzymatic Fabri Renal Lysosomal Genes Guaigua López, Silvia Marcela Guamán Castillo, Cristian Alejandro Zambrano Sangurima, Matías Sebastián Campoverde Cárdenas, Adrian David Enfermedad de Fabry. Una enfermedad renal crónica |
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Fabry disease belongs to the group of lysosomal diseases, rare pathologies of genetic origin, due to patho-genic mutations in genes that code for proteins, associated with the function of lysosomes. The methodology used for this research work is part of a bibliographic review of documentary type, since we are going to deal with issues raised at a theoretical level such as Fabry's disease. A chronic kidney disease. The technique for data collection is made up of electronic materials, the latter such as Google Scholar, PubMed, Science direct, among others, relying for this on the use of descriptors in health sciences or MESH terminology. The information obtained here will be reviewed for further analysis. Although there are several therapeutic options, within the international medical community the most advisable is enzyme replacement therapy, with two op-tions (agalsidase- β and agalsidase- α), which are for life, although reversibility remains to be determined. of kidney involvement, since when both are compared there are no significant differences. Renal replacement therapy is indicated in early diagnoses of the disease, having contraindications based on age and associated comorbidities
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| format |
Article
|
| author |
Guaigua López, Silvia Marcela
Guamán Castillo, Cristian Alejandro Zambrano Sangurima, Matías Sebastián Campoverde Cárdenas, Adrian David |
| author_facet |
Guaigua López, Silvia Marcela
Guamán Castillo, Cristian Alejandro Zambrano Sangurima, Matías Sebastián Campoverde Cárdenas, Adrian David |
| author_sort |
Guaigua López, Silvia Marcela
|
| title |
Enfermedad de Fabry. Una enfermedad renal crónica
|
| title_short |
Enfermedad de Fabry. Una enfermedad renal crónica
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| title_full |
Enfermedad de Fabry. Una enfermedad renal crónica
|
| title_fullStr |
Enfermedad de Fabry. Una enfermedad renal crónica
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| title_full_unstemmed |
Enfermedad de Fabry. Una enfermedad renal crónica
|
| title_sort |
enfermedad de fabry. una enfermedad renal crónica
|
| publishDate |
2022
|
| url |
https://dialnet.unirioja.es/servlet/oaiart?codigo=8648132
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| _version_ |
1767464039213957120
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| spelling |
dialnet-ar-18-ART00015564242023-05-30Enfermedad de Fabry. Una enfermedad renal crónicaGuaigua López, Silvia MarcelaGuamán Castillo, Cristian AlejandroZambrano Sangurima, Matías SebastiánCampoverde Cárdenas, Adrian DavidEnzimáticoFabriRenalLisosomalesGenesEnzymaticFabriRenalLysosomalGenesFabry disease belongs to the group of lysosomal diseases, rare pathologies of genetic origin, due to patho-genic mutations in genes that code for proteins, associated with the function of lysosomes. The methodology used for this research work is part of a bibliographic review of documentary type, since we are going to deal with issues raised at a theoretical level such as Fabry's disease. A chronic kidney disease. The technique for data collection is made up of electronic materials, the latter such as Google Scholar, PubMed, Science direct, among others, relying for this on the use of descriptors in health sciences or MESH terminology. The information obtained here will be reviewed for further analysis. Although there are several therapeutic options, within the international medical community the most advisable is enzyme replacement therapy, with two op-tions (agalsidase- β and agalsidase- α), which are for life, although reversibility remains to be determined. of kidney involvement, since when both are compared there are no significant differences. Renal replacement therapy is indicated in early diagnoses of the disease, having contraindications based on age and associated comorbiditiesLa enfermedad de Fabry pertenece al grupo de las enfermedades lisosomales, de patologías poco frecuentes de origen genético, debidas a mutaciones patogénicas en genes que codifican para proteínas, asociadas a la función de los lisosomas. La metodología utilizada para el presente trabajo de investigación, se enmarca dentro de una revisión bibliográfica de tipo documental, ya que nos vamos a ocupar de temas planteados a nivel teórico como es Enfermedad de Fabry. Una enfermedad renal crónica. La técnica para la recolección de datos está constituida por materiales electrónicos, estos últimos como Google Académico, PubMed, Science direct, entre otros, apoyándose para ello en el uso de descriptores en ciencias de la salud o terminología MESH. La información aquí obtenida será revisada para su posterior análisis. A pesar de que existen varias opciones terapéuticas, dentro de la comunidad médica internacional el más aconsejable es la terapia de reemplazo enzimática, existiendo dos opciones (agalsidasa- β y agalsidasa- α), que son de por vida, aunque está por determinar la reversibilidad de la afectación renal, ya que cuando se comparan ambas no hay diferencias significativas. La terapia de reemplazo renal está indicada en los diagnósticos temprano de la enfermedad, teniendo contraindicaciones en base a la edad y comorbilidades asociadas2022text (article)application/pdfhttps://dialnet.unirioja.es/servlet/oaiart?codigo=8648132(Revista) ISSN 2588-073XRECIMUNDO: Revista Científica de la Investigación y el Conocimiento, ISSN 2588-073X, Vol. 6, Nº. 4, 2022, pags. 279-287spaLICENCIA DE USO: Los documentos a texto completo incluidos en Dialnet son de acceso libre y propiedad de sus autores y/o editores. Por tanto, cualquier acto de reproducción, distribución, comunicación pública y/o transformación total o parcial requiere el consentimiento expreso y escrito de aquéllos. Cualquier enlace al texto completo de estos documentos deberá hacerse a través de la URL oficial de éstos en Dialnet. Más información: https://dialnet.unirioja.es/info/derechosOAI | INTELLECTUAL PROPERTY RIGHTS STATEMENT: Full text documents hosted by Dialnet are protected by copyright and/or related rights. This digital object is accessible without charge, but its use is subject to the licensing conditions set by its authors or editors. Unless expressly stated otherwise in the licensing conditions, you are free to linking, browsing, printing and making a copy for your own personal purposes. All other acts of reproduction and communication to the public are subject to the licensing conditions expressed by editors and authors and require consent from them. Any link to this document should be made using its official URL in Dialnet. More info: https://dialnet.unirioja.es/info/derechosOAI
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