{"id":10392,"date":"1996-01-01T00:00:00","date_gmt":"1996-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/1996\/01\/01\/genetica-molecular-de-la-poliquistosis-renal-autosomica-dominante\/"},"modified":"1996-01-01T00:00:00","modified_gmt":"1996-01-01T00:00:00","slug":"genetica-molecular-de-la-poliquistosis-renal-autosomica-dominante","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/genetica-molecular-de-la-poliquistosis-renal-autosomica-dominante\/","title":{"rendered":"Genetica molecular de la poliquistosis renal autosomica dominante."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Rafael Alonso Valente <\/strong><\/h2>\n<p>La poliquistosis renal autosomica dominante (adpkd) es una de las enfermedades hereditarias mas frecuentes, afectando a 1 de cada 1000 individuos. Es responsable del 13% de los pacientes con insuficiencia renal cronica terminal (irct) que precisan tratamiento sustitutivo en galicia. Adpkd es geneticamente heterogenea con una forma de la enfermedad ligada al cromosoma 16 (pkd1), otra al cromosoma 4, pkd2, y recientemente, se han descrito 3 familias no ligadas al cromosoma 16 ni al 4.  hemos realizado un estudio clinico en 45 familias diagnosticadas de adpkd con un total de 220 miembros, 194 de riesgo y 26 conyuges. De los individuos de riesgo 96 eran varones y 98 hembras siendo la mitad de los mismos menores de 30 a\u00f1os. Criterios ecograficos para el diagnostico de adpkd estaban presentes en 101 pacientes mientras que 83 no estaban afectos.  en 11 familias (123 miembros de riesgo y 26 conyuges) se realizo un analisis de ligamiento con dos microsatelites dinucleotidos, ac2.5 y sm7, que flanquean al locus pkd1 en el cromosoma 16p 13.3 con el objeto de determinar la proporcion de familias pkd1 frente a las no pkd1 en la transmision genetica de esta enfermedad en nuestro ambito geografico. Ocho de ellas pudieron ser caracterizadas geneticamente estando la enfermedad ligada al locus pkd1 en 7 de ellas.  el estudio genetico molecular mediante polimorfismos de adn confirma la heterogeneidad genetica de la poliquistosis renal autosomica dominante en nuestro ambito geografico con el 87% de las familias ligadas a pkd1.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Genetica molecular de la poliquistosis renal autosomica dominante.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Genetica molecular de la poliquistosis renal autosomica dominante. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Rafael Alonso Valente <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Santiago de compostela<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1996<\/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>Mar\u00eda  Victoria Lareu Huidobro<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jes\u00fas Montoli\u00fa Dur\u00e1n <\/li>\n<li>Mar\u00eda  Sol Rodriguez Calvo (vocal)<\/li>\n<li>Jos\u00e9 Luis San Millan Lopez (vocal)<\/li>\n<li>Domingo Sanchez-guisande Jack (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Rafael Alonso Valente La poliquistosis renal autosomica dominante (adpkd) es una de las enfermedades hereditarias mas frecuentes, [&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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