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dc.contributor.advisorMolano Triviño, Alejandra Patricia 
dc.contributor.advisorWancjer Meid, Benjamin 
dc.contributor.advisorBenavides, Carlos 
dc.creatorSaravia Bermeo, Isabel Cristina 
dc.creatorDucuara Rodriguez, Daniel Humberto 
dc.date.accessioned2015-08-06T01:20:02Z
dc.date.available2015-08-06T01:20:02Z
dc.date.created2015-07-23
dc.date.issued2015
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/10686
dc.descriptionIntroducción: La Enfermedad de Fabry (EF), es una enfermedad multisistémica de almacenamiento lisosomal ligada al cromosoma X que afecta principalmente a hombres, pero también puede causar significativa morbilidad en las mujeres heterocigotas (1–5). La deficiencia de la enzyma α-galactosidaseA (α-Gal A,) provoca acumulación de glicosfingolipidos que afectan diferentes tipos celulares entre ellos el endotelio vascular en vasos de pequeño calibre, células epiteliales y Músculo liso en el sistema cardiovascular (cardiomiocitos), sistema nervioso y células epiteliales tubulares del riñón (6,7). Complicaciones como la falla renal es la causa de muerte más frecuente en la EF (7,8). La incidencia se ha calculado en 1 de cada 117.000 nacidos vivos. (9). Objetivos: Determinar la prevalencia de la Enfermedad de Fabry en pacientes con Insuficiencia renal terminal que se encuentren en lista de trasplante y Post-trasplante Renal en Fundación Cardioinfantil Bogotá. Materiales y Métodos: Se realizó un estudio observacional en donde se evaluó la prevalencia de la EF en todos los sujetos mayores de 18 años que se encuentren en lista de trasplante y post-trasplante renal. Resultados: La prevalencia de Enfermedad de Fabry en 98 pacientes con enfermedad renal crónica fue de 7.1% para la muestra general y 12.9% para la muestra con etiología idiopática Conclusiones: La Enfermedad de Fabry es una importante casusa de Enfermedad Renal Crónica Terminal principalmente en el grupo de etiología idiopática. Palabras Clave: Enfermedad de Fabry (FA)
dc.description.abstractIntroduction: Fabry disease (EF) is a multisystemic lysosomal storage disease linked to the X chromosome which mainly affects men, but can also cause significant morbidity in heterozygous females (1-5). The deficiency of α-galactosidaseA Enzyma (α-Gal A) causes accumulation of glycosphingolipids that affect various cell types including vascular endothelium in small vessels, epithelial cells and smooth muscle in the cardiovascular system (cardiomyocytes), nervous system and kidney tubular epithelial cells (6,7). Complications 8 such as kidney failure is the most common cause of the EF (7.8) death. The incidence is estimated at 1 in 117,000 live births. (9). Objective: To determine the prevalence of Fabry disease in patients with end-stage renal failure who are on the transplant list and after renal transplantation in Bogota Cardioinfantil Foundation. Materials and Methods: An observational study in which the prevalence of FD in all subjects older than 18 who are on the transplant list and post-renal transplant was performed was evaluated. Results: According to this population screening in all 98 patients was 7.1% positive subjects Conclusions: Fabry disease is an important casus Terminal Chronic Renal Disease mainly in the group of idiopathic etiology. Keywords: Fabry disease (FD)
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dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/2.5/co/
dc.sourceinstname:Universidad del Rosario
dc.sourcereponame:Repositorio Institucional EdocUR
dc.subjectEnfermedad de Fabry (FA)
dc.subject.ddcEnfermedades 
dc.subject.lembEnfermedad de Fabry
dc.titlePrevalencia de enfermedad de Fabry en pacientes en lista de trasplante y posttrasplante renal en fundación cardioinfantil Bogotá
dc.typemasterThesis
dc.publisherUniversidad del Rosario
dc.creator.degreeEspecialista en Medicina Interna
dc.publisher.programEspecialización en Medicina Interna
dc.publisher.departmentFacultad de Medicina
dc.subject.keywordFabry disease (FD)
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.subject.decsMedicina Interna
dc.subject.decsGenética
dc.subject.decsEnfermedades Cardiovasculares
dc.subject.decsEnfermedades del Sistema Nervioso
dc.subject.decsEnfermedades Genéticas Congénitas
dc.type.spaTrabajo de grado
dc.rights.accesoAbierto (Texto completo)
dc.type.hasVersioninfo:eu-repo/semantics/acceptedVersion
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dc.rights.ccAtribución-NoComercial-SinDerivadas 2.5 Colombia
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