{"id":79632,"date":"2018-03-09T23:25:30","date_gmt":"2018-03-09T23:25:30","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-de-la-poblacion-con-enfermedad-de-fabry-en-espana-analisis-de-la-respuesta-al-tratamiento-de-sustitucion-enzimatica\/"},"modified":"2018-03-09T23:25:30","modified_gmt":"2018-03-09T23:25:30","slug":"estudio-de-la-poblacion-con-enfermedad-de-fabry-en-espana-analisis-de-la-respuesta-al-tratamiento-de-sustitucion-enzimatica","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/estudio-de-la-poblacion-con-enfermedad-de-fabry-en-espana-analisis-de-la-respuesta-al-tratamiento-de-sustitucion-enzimatica\/","title":{"rendered":"Estudio de la poblaci\u00f3n con enfermedad de fabry en espa\u00f1a. an\u00e1lisis de la respuesta al tratamiento de sustituci\u00f3n enzim\u00e1tica"},"content":{"rendered":"<h2>Tesis doctoral de <strong> M\u00f3nica Ang\u00e9lica L\u00f3pez Rodr\u00edguez <\/strong><\/h2>\n<p>Se analiz\u00f3 a 49 pacientes con enfermedad de fabry, pertenecientes a 18 familias, distribuidos por la geograf\u00eda espa\u00f1ola, de forma prospectiva durante cuatro a\u00f1os (de marzo de 2001 a abril de 2005). En la exprexividad cl\u00ednica destaca una mayor afectaci\u00f3n en el sexo masculino, aunque las mujeres tambi\u00e9n tienen formas moderadasa de la en fermedad. El tipo de mutaci\u00f3n m\u00e1s repetida es la mutaci\u00f3n \u00abmissense\u00bb (cambio de un nucle\u00f3tidopor otro). La forma de presentaci\u00f3n m\u00e1s frecuente es la presencia de angioqueratomas y dolor neurop\u00e1tico, tanto en forma de crisis de dolor, como de dolor cr\u00f3nico. La manifestaci\u00f3nes m\u00e1s graves y que ocasionan mayor morbimortalidad son la afectaci\u00f3n renal (proteinuria, insuficiencia renal), afectaci\u00f3n cardiaca (arritmias, hipertrofia de ventr\u00edculo izquierdo) y afectaci\u00f3n cecebrovascular (ictus). Hasta un  tercio de los pacientes tiene una afectaci\u00f3n multisist\u00e9mica grave.  en cuanto al an\u00e1lisis de respuesta al tratamiento, hab\u00eda 34 pacientes en tratamiento sustitutivo enzim\u00e1tico con agalsidasa alta. Y se observ\u00f3 que el tratamiento consigue estabilizar los p\u00e1rametros empleados como indicadores sde respuesta al mismo (fundamentalmente, funci\u00f3n renal y masa mioc\u00e1rdica).  se trata de la mayor serie de pacientes con enfermedad de fabry analizada en espa\u00f1a.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio de la poblaci\u00f3n con enfermedad de fabry en espa\u00f1a. an\u00e1lisis de la respuesta al tratamiento de sustituci\u00f3n enzim\u00e1tica<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio de la poblaci\u00f3n con enfermedad de fabry en espa\u00f1a. an\u00e1lisis de la respuesta al tratamiento de sustituci\u00f3n enzim\u00e1tica <\/li>\n<li><strong>Autor:<\/strong>\u00a0 M\u00f3nica Ang\u00e9lica L\u00f3pez Rodr\u00edguez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 24\/04\/2006<\/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> Barbado Hern\u00e1ndez Francisco Javier<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Juan  jos\u00e9 V\u00e1zquez rodr\u00edguez <\/li>\n<li>guillermo Pintos morell (vocal)<\/li>\n<li>abelardo Garc\u00eda de lorenzo (vocal)<\/li>\n<li>Juan Guerra vales (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de M\u00f3nica Ang\u00e9lica L\u00f3pez Rodr\u00edguez Se analiz\u00f3 a 49 pacientes con enfermedad de fabry, pertenecientes a 18 familias, [&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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