{"id":23527,"date":"2018-03-09T09:14:07","date_gmt":"2018-03-09T09:14:07","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/mutaciones-del-gen-hfe-en-la-enfermedad-hepatica-cronica\/"},"modified":"2018-03-09T09:14:07","modified_gmt":"2018-03-09T09:14:07","slug":"mutaciones-del-gen-hfe-en-la-enfermedad-hepatica-cronica","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/oviedo\/mutaciones-del-gen-hfe-en-la-enfermedad-hepatica-cronica\/","title":{"rendered":"Mutaciones del gen hfe en la enfermedad hep\u00e1tica cr\u00f3nica"},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Lauret Bra\u00f1a M. Eugenio <\/strong><\/h2>\n<p>La hemocromatosis hereditaria (hh) es la enfermedad metab\u00f3lica hep\u00e1tica m\u00e1s frecuente en la raza blanca, caracterizada por un incremento de los dep\u00f3sitos corporales de hierro con afectaci\u00f3n multiorg\u00e1nica. La sobrecarga de este metal tambi\u00e9n se ha implicado en la patogenia de otras enfermedades hep\u00e1ticas, fundamentalmente aquellas de etiolog\u00eda alcoh\u00f3lica o v\u00edrica. la evoluci\u00f3n natural de estos trastornos conduce al desarrollo de cirrosis y a la eventual aparici\u00f3n del carcinoma hepatocelular (chc). Recientemente, se ha descrito un gen denominado hfe cuyas mutaciones  (c282y, h63d) se consideran responsables de la hh. El objetivo de este estudio fue investigar el papel de estas mutaciones en pacientes con hh y en cirr\u00f3ticos de etiolog\u00eda alcoh\u00f3lica o v\u00edrica con o sin chc. Para ello, se denominaron los \u00edndices s\u00e9ricos de hierro y las mutaciones del gen hfe en 37 pacientes con el diagn\u00f3stico previo de hh de acuerdo a los criterios cl\u00e1sicos y en 323 pacientes cirr\u00f3ticos (209 de etiolog\u00eda alcoh\u00f3lica; 114 con cirrosis por virus de la hepatitis b y\/o virus de la hepatitis c). Cuarenta y cinco pacientes con cirrosis alcoh\u00f3lica y 42 con cirrosis ten\u00edan un chc asociado. La sobrecarga histol\u00f3gica de hierro fue valorada en 33 pacientes con hh y 76 pacientes con cirrosis, mediante la determinaci\u00f3n de los \u00edndices bioqu\u00edmico (ibh) e histol\u00f3gico de hierro hep\u00e1tico (ihh). Adicionalmente, fueron estudiados 65 familiares de primer grado de los pacientes con hh.  el grupo control lo constituyeron 159 donantes sanos de m\u00e9dula \u00f3sea. En 31 pacientes con hh (84%) se encontr\u00f3 la mutaci\u00f3n c282y con car\u00e1cter homocigoto.  por el contrario, no hubo ning\u00fan sujeto con este genotipo en el grupo control, mientras que un 7% fueron heterocigotos para esta mutaci\u00f3n. Aunque la frecuencia de la mutaci\u00f3n h63d fue m\u00e1s alta en el grupo control, esta tendencia no se confirm\u00f3 cuando se consideraron los cromosomas en riesgo de llevar esta muta<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Mutaciones del gen hfe en la enfermedad hep\u00e1tica cr\u00f3nica<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Mutaciones del gen hfe en la enfermedad hep\u00e1tica cr\u00f3nica <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Lauret Bra\u00f1a M. Eugenio <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Oviedo<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 13\/06\/2003<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Luis Rodrigo S\u00e1ez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal:  Arribas castrillo Jos\u00e9 manuel <\/li>\n<li>Fernando Casafont morencos (vocal)<\/li>\n<li>lino V\u00e1zquez velasco (vocal)<\/li>\n<li>agustin Caro paton gomez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Lauret Bra\u00f1a M. Eugenio La hemocromatosis hereditaria (hh) es la enfermedad metab\u00f3lica hep\u00e1tica m\u00e1s frecuente en la [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[8846],"tags":[9694,8877,40191,69699,69700,9097],"class_list":["post-23527","post","type-post","status-publish","format-standard","hentry","category-oviedo","tag-agustin-caro-paton-gomez","tag-arribas-castrillo-jose-manuel","tag-fernando-casafont-morencos","tag-lauret-brana-m-eugenio","tag-lino-vazquez-velasco","tag-luis-rodrigo-saez"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/23527","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=23527"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/23527\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=23527"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=23527"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=23527"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}