Enfermedad de Wilson : revisión del tema
ABSTRACT: Wilson’s disease is an autosomal recessive disorder caused by mutations in the ATP7B gene that lead to an abnormal metabolism of copper, resulting in the accumulation of this element in several organs and tissues. Its diagnosis is based on the combination of the clinical picture with vario...
- Autores:
-
Espinoza Herrera, Yeinis Paola
Muñoz Ruiz, Luis Manuel
Restrepo Gutiérrez, Juan Carlos
- Tipo de recurso:
- Review article
- Fecha de publicación:
- 2010
- Institución:
- Universidad de Antioquia
- Repositorio:
- Repositorio UdeA
- Idioma:
- spa
- OAI Identifier:
- oai:bibliotecadigital.udea.edu.co:10495/12662
- Acceso en línea:
- http://hdl.handle.net/10495/12662
- Palabra clave:
- Enfermedad de Wilson
Degeneración Hepatolenticular
Metabolismo del cobre
Quelantes
- Rights
- openAccess
- License
- Atribución-NoComercial-CompartirIgual 2.5 Colombia (CC BY-NC-SA 2.5 CO)
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Enfermedad de Wilson : revisión del tema |
| dc.title.alternative.spa.fl_str_mv |
Wilson’s disease: a review |
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Enfermedad de Wilson : revisión del tema |
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Enfermedad de Wilson : revisión del tema Enfermedad de Wilson Degeneración Hepatolenticular Metabolismo del cobre Quelantes |
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Enfermedad de Wilson : revisión del tema |
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Enfermedad de Wilson : revisión del tema |
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Enfermedad de Wilson : revisión del tema |
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Enfermedad de Wilson : revisión del tema |
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Enfermedad de Wilson : revisión del tema |
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Espinoza Herrera, Yeinis Paola Muñoz Ruiz, Luis Manuel Restrepo Gutiérrez, Juan Carlos |
| dc.contributor.author.none.fl_str_mv |
Espinoza Herrera, Yeinis Paola Muñoz Ruiz, Luis Manuel Restrepo Gutiérrez, Juan Carlos |
| dc.subject.none.fl_str_mv |
Enfermedad de Wilson Degeneración Hepatolenticular Metabolismo del cobre Quelantes |
| topic |
Enfermedad de Wilson Degeneración Hepatolenticular Metabolismo del cobre Quelantes |
| description |
ABSTRACT: Wilson’s disease is an autosomal recessive disorder caused by mutations in the ATP7B gene that lead to an abnormal metabolism of copper, resulting in the accumulation of this element in several organs and tissues. Its diagnosis is based on the combination of the clinical picture with various biochemical tests, neither one of which is, by itself, diagnostic of the disease. Presently there are effective treatments for EW based on the administration of chelating agents to promote mobilization of copper from the accumulation sites and its excretion. Zinc is also used in order to block the intestinal absorption of copper. Liver transplantation is the treatment of choice in patients with fulminating hepatitis, as well as in those with decompensated cirrhosis. This review includes the following aspects of Wilson‘s disease: biochemical, genetic, clinical, diagnostic, and therapeutic. |
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2010 |
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2010 |
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2019-12-20T15:41:02Z |
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2019-12-20T15:41:02Z |
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Espinoza Herrera YP, Muñoz Ruiz LM, Restrepo Gutiérrez JC. Enfermedad de Wilson: revisión del tema. Iatreia. 2010 Mar;23(1): 58-66. |
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0121-0793 |
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http://hdl.handle.net/10495/12662 |
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2011-7965 |
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Espinoza Herrera YP, Muñoz Ruiz LM, Restrepo Gutiérrez JC. Enfermedad de Wilson: revisión del tema. Iatreia. 2010 Mar;23(1): 58-66. 0121-0793 2011-7965 |
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Iatreia |
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Atribución-NoComercial-CompartirIgual 2.5 Colombia (CC BY-NC-SA 2.5 CO) |
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Universidad de Antioquia, Facultad de Medicina |
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Grupo de Gastrohepatología |
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Medellín, Colombia |
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Universidad de Antioquia |
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Espinoza Herrera, Yeinis PaolaMuñoz Ruiz, Luis ManuelRestrepo Gutiérrez, Juan Carlos2019-12-20T15:41:02Z2019-12-20T15:41:02Z2010Espinoza Herrera YP, Muñoz Ruiz LM, Restrepo Gutiérrez JC. Enfermedad de Wilson: revisión del tema. Iatreia. 2010 Mar;23(1): 58-66.0121-0793http://hdl.handle.net/10495/126622011-7965ABSTRACT: Wilson’s disease is an autosomal recessive disorder caused by mutations in the ATP7B gene that lead to an abnormal metabolism of copper, resulting in the accumulation of this element in several organs and tissues. Its diagnosis is based on the combination of the clinical picture with various biochemical tests, neither one of which is, by itself, diagnostic of the disease. Presently there are effective treatments for EW based on the administration of chelating agents to promote mobilization of copper from the accumulation sites and its excretion. Zinc is also used in order to block the intestinal absorption of copper. Liver transplantation is the treatment of choice in patients with fulminating hepatitis, as well as in those with decompensated cirrhosis. This review includes the following aspects of Wilson‘s disease: biochemical, genetic, clinical, diagnostic, and therapeutic.RESUMEN: La Enfermedad de Wilson es un trastorno autosómico recesivo causado por mutaciones en el gen ATP7B que producen anormalidad en el metabolismo del cobre, con acumulación de este elemento en distintos órganos y tejidos. El diagnóstico se basa en la combinación del cuadro clínico con diversas pruebas bioquímicas, pues ninguna de ellas, aisladamente, es diagnóstica. En la actualidad se cuenta con un tratamiento efectivo para esta enfermedad, basado en la utilización de quelantes del cobre, para movilizarlo de los sitios donde se acumula y promover su excreción, así como de zinc para bloquear su absorción intestinal. El trasplante hepático es el tratamiento de elección en los pacientes con hepatopatía fulminante, así como en los que llegan a la cirrosis descompensada. En esta revisión se incluyen aspectos bioquímicos, genéticos, clínicos, diagnósticos y terapéuticos de esta enfermedad.8application/pdfspaUniversidad de Antioquia, Facultad de MedicinaGrupo de GastrohepatologíaMedellín, Colombiainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_dcae04bchttp://purl.org/coar/resource_type/c_2df8fbb1https://purl.org/redcol/resource_type/ARTREVArtículo de revisiónhttp://purl.org/coar/version/c_970fb48d4fbd8a85Atribución-NoComercial-CompartirIgual 2.5 Colombia (CC BY-NC-SA 2.5 CO)info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/co/http://purl.org/coar/access_right/c_abf2https://creativecommons.org/licenses/by-nc-sa/4.0/Enfermedad de WilsonDegeneración HepatolenticularMetabolismo del cobreQuelantesEnfermedad de Wilson : revisión del temaWilson’s disease: a reviewIatreiaIatreia5866231ORIGINALEspinozaYeinis_2010_EnfermedadWilsonRevisión.pdfEspinozaYeinis_2010_EnfermedadWilsonRevisión.pdfArtículo de revisiónapplication/pdf218757http://bibliotecadigital.udea.edu.co/bitstream/10495/12662/1/EspinozaYeinis_2010_EnfermedadWilsonRevisi%c3%b3n.pdf64940d32c761c8f53409779051043d0cMD51CC-LICENSElicense_urllicense_urltext/plain; charset=utf-849http://bibliotecadigital.udea.edu.co/bitstream/10495/12662/2/license_url4afdbb8c545fd630ea7db775da747b2fMD52license_textlicense_texttext/html; charset=utf-80http://bibliotecadigital.udea.edu.co/bitstream/10495/12662/3/license_textd41d8cd98f00b204e9800998ecf8427eMD53license_rdflicense_rdfapplication/rdf+xml; charset=utf-80http://bibliotecadigital.udea.edu.co/bitstream/10495/12662/4/license_rdfd41d8cd98f00b204e9800998ecf8427eMD54LICENSElicense.txtlicense.txttext/plain; charset=utf-81748http://bibliotecadigital.udea.edu.co/bitstream/10495/12662/5/license.txt8a4605be74aa9ea9d79846c1fba20a33MD5510495/12662oai:bibliotecadigital.udea.edu.co:10495/126622021-03-23 08:36:42.326Repositorio Institucional Universidad de Antioquiaandres.perez@udea.edu.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 |