{"id":28105,"date":"2004-09-01T00:00:00","date_gmt":"2004-09-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/presencia-de-hemocromatosis-hereditaria-en-el-area-de-salud-numero-16-de-la-provincia-de-alicante\/"},"modified":"2004-09-01T00:00:00","modified_gmt":"2004-09-01T00:00:00","slug":"presencia-de-hemocromatosis-hereditaria-en-el-area-de-salud-numero-16-de-la-provincia-de-alicante","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/miguel-hernandez-de-elche\/presencia-de-hemocromatosis-hereditaria-en-el-area-de-salud-numero-16-de-la-provincia-de-alicante\/","title":{"rendered":"Presencia de hemocromatosis hereditaria en el \u00e1rea de salud n\u00famero 16 de la provincia de alicante"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Adela S\u00e1nchez Moya <\/strong><\/h2>\n<p>1,- introducci\u00f3n  la hemocromatosis hereditaria (hh) en una enfermedad autos\u00f3mica recesiva, ligada al complejo mayor de hilstocompatibilidad. Se caracteriza por un aumento de la absorci\u00f3n intestinal de hierro, deposit\u00e1ndose este en diversos tejidos, ocasionando da\u00f1o tisular, fibrosis e insuficiencia tisular.  se vio que esta patolog\u00eda estaba relacionada con la producci\u00f3n an\u00f3mala de una prote\u00edna que se denomino \u00abhfe\u00bb.  el gen que codifica esta prote\u00edna pertenece a la familia de genes de hla i y est\u00e1 situado en el brazo corto del cromosoma 6.  se han descrito diversas mutaciones en el gen que codifica dicha prote\u00edna, relacion\u00e1ndose principalmente dos de ellas, c282y y h63d, con la aparici\u00f3n de hh.  la forma gen\u00e9tica m\u00e1s frecuente consiste en la sustituci\u00f3n de guanina por adenina en el nucle\u00f3tico 845 que provoca el cambio de la ciste\u00edna en posici\u00f3n 282 por tirosina (c282y). La otra es la originada debido al cambio de citosina por guanina en el nucle\u00f3tido 187 dando lugar en la posici\u00f3n 63 a la sustituci\u00f3n de histidina por asp\u00e1rtico (h63d).  se cree que la funci\u00f3n normal de hfe es promover la captaci\u00f3n de hierro mediado por los receptores de transferrina en las c\u00e9lulas de las criptas del intestino delgado. Aunque no se conoce con exactitud el mecanismo de la absorci\u00f3n del mismo.  se ha descrito en diversos estudios, una asociaci\u00f3n entre porfiria cutanea tarda (pct) y la hh. El aumento de hierro a nivel hep\u00e1tico puede desencadenar las manifestaciones cl\u00ednicas de esta patolog\u00eda por contribuir a la inhibici\u00f3n de la uroporfirin\u00f3geno decarboxilasa. La disminuci\u00f3n de la actividad de esta enzima, en el h\u00edgado, desencadena la pct.  algunos autores afirman que existe una asociaci\u00f3n entre la presencia del d\u00e9ficit de al antitripsina y hh. Ambas patolog\u00edas son frecuentes en la poblaci\u00f3n y ambas pueden producir da\u00f1o hep\u00e1tico, por lo que dicha asociaci\u00f3n debe tenerse en cuenta.  2,- objetivos  1,- cono<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Presencia de hemocromatosis hereditaria en el \u00e1rea de salud n\u00famero 16 de la provincia de alicante<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Presencia de hemocromatosis hereditaria en el \u00e1rea de salud n\u00famero 16 de la provincia de alicante <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Adela S\u00e1nchez Moya <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Miguel hern\u00e1ndez de elche<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 09\/01\/2004<\/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>Jes\u00fas Casero Ariza<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jaime Merino sanchez <\/li>\n<li>mercedes Juste ruiz (vocal)<\/li>\n<li>manolo Portoles sanz (vocal)<\/li>\n<li>Fernando P\u00e9rez aguilar (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Adela S\u00e1nchez Moya 1,- introducci\u00f3n la hemocromatosis hereditaria (hh) en una enfermedad autos\u00f3mica recesiva, ligada al complejo [&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 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