{"id":60315,"date":"2007-01-08T00:00:00","date_gmt":"2007-01-08T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/enfermedad-renal-qua%c2%adstica-medular-mckd-estudio-molecular-y-busqueda-de-genes-candidatos\/"},"modified":"2007-01-08T00:00:00","modified_gmt":"2007-01-08T00:00:00","slug":"enfermedad-renal-qua%c2%adstica-medular-mckd-estudio-molecular-y-busqueda-de-genes-candidatos","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/enfermedad-renal-qua%c2%adstica-medular-mckd-estudio-molecular-y-busqueda-de-genes-candidatos\/","title":{"rendered":"Enfermedad renal qu\u00edstica medular (mckd): estudio molecular y b\u00fasqueda de genes candidatos"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Patricia Outeda Garc\u00eda <\/strong><\/h2>\n<p>La enfermedad renal qu\u00edstica medular (cuyas siglas en ingl\u00e9s son mckd) junto con la nefronoptisis (nph) son incluidas en un mismo grupo de nefritis t\u00fabulointersticial conocido como complejo nph-mckd. Aunque la mckd y nph comparten caracter\u00edsticas morfol\u00f3gicas se diferencian en diversos aspectos. La variante de la enfermedad m\u00e1s com\u00fan es la nph juvenil recesiva, con debut en la infancia e insuficiencia renal cr\u00f3nica terminal (irct) en la segunda d\u00e9cada de vida. La mckd es una condici\u00f3n dominante con identificaci\u00f3n m\u00e1s tard\u00eda y que desemboca en irct como media en la quinta d\u00e9cada de vida, siendo la hiperuricemia, hipertensi\u00f3n arterial y artritis gotosa las manifestaciones com\u00fanmente asociadas. en un principio ambas entidades, mckd y nph era consideradas como enfermedades distintas, pero posteriormente se sugiri\u00f3 que realmente se trataba de la misma enfermedad, ya que compart\u00edan las mismas manifestaciones cl\u00ednico-patol\u00f3gicas. Esta idea unificadora fue posteriormente eliminada debido a la identificaci\u00f3n de familias que mostraban un patr\u00f3n de herencia de tipo autos\u00f3mico dominante, mientras que otras mostraban un patr\u00f3n autos\u00f3mico recesivo. en la mckd existen al menos tres genes distintos implicados responsable de la mckd1, mckd2 y mckd3 localizados en los cromosomas 1q21, 16p12-13 y 1q41 respectivamente. Con la intenci\u00f3n de diagnosticar nuestra cohorte de familias mckd correctamente, se han contrastado los datos cl\u00ednicos disponibles con estudios gen\u00e9ticos en cada una de ellas.  en treinta y siete familias se ha visto la existencia de una nefropat\u00eda autos\u00f3mica dominante y se han recolectado y evaluado m\u00e1s de 80 individuos afectos y no afectos. el estudio mutacional del gen umod identific\u00f3 4 familias con mutaci\u00f3n en el gen, con ligamiento al locus 2, y se efectu\u00f3 un an\u00e1lisis de haplotipos paralos loci 1 y 3 en 10 familias distintas. Se ha visto las enormes dificultades que entra\u00f1a el diagn\u00f3stico basado tan s\u00f3lo en criterios cl\u00ednic<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Enfermedad renal qu\u00edstica medular (mckd): estudio molecular y b\u00fasqueda de genes candidatos<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Enfermedad renal qu\u00edstica medular (mckd): estudio molecular y b\u00fasqueda de genes candidatos <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Patricia Outeda Garc\u00eda <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Santiago de compostela<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/08\/2007<\/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> Lens Neo Xos\u00e9 Manuel<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: fernando Dominguez puente <\/li>\n<li>Francisco Javier Rodriguez berrocal (vocal)<\/li>\n<li>Francisco Barros angueira (vocal)<\/li>\n<li>Mar\u00eda Campistol josep (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Patricia Outeda Garc\u00eda La enfermedad renal qu\u00edstica medular (cuyas siglas en ingl\u00e9s son mckd) junto con 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 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