{"id":64326,"date":"2018-03-09T22:52:19","date_gmt":"2018-03-09T22:52:19","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/sa%c2%adndrome-de-gitelman-en-ninos-espanoles-peculiaridades-en-la-etnia-gitana\/"},"modified":"2018-03-09T22:52:19","modified_gmt":"2018-03-09T22:52:19","slug":"sa%c2%adndrome-de-gitelman-en-ninos-espanoles-peculiaridades-en-la-etnia-gitana","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/pediatria\/sa%c2%adndrome-de-gitelman-en-ninos-espanoles-peculiaridades-en-la-etnia-gitana\/","title":{"rendered":"S\u00edndrome de gitelman en ni\u00f1os espa\u00f1oles. peculiaridades en la etnia gitana"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Jos\u00e9 David Herrero Mor\u00edn <\/strong><\/h2>\n<p>El s\u00edndrome de gitelman es una tubulopat\u00eda renal caracterizada por alcalosis metab\u00f3lica, hipopotasemia e hipomagnesemia en presencia de p\u00e9rdida renal excesiva de potasio y magnesio, e hipocalciuria. Se produce como consecuencia de diferentes mutaciones del gen slc12a3, que codifica el cotransportador na-cl sensible a tiazidas del t\u00fabulo contorneado distal. Aunque se han descrito m\u00e1s de 100 mutaciones diferentes productoras del s\u00edndrome, en la etnia gitana \u00fanicamente se ha encontrado la mutaci\u00f3n intr\u00f3n 9+1 g>t. El s\u00edndrome presenta una gran variabilidad fenot\u00edpica, incluso en pacientes con una misma mutaci\u00f3n, y puede afectar al crecimiento.  el presente estudio trata de describir las caracter\u00edsticas cl\u00ednicas, la somatometr\u00eda, las caracter\u00edsticas bioqu\u00edmicas y la calidad de vida del s\u00edndrome de gitelman en poblaci\u00f3n espa\u00f1ola de etnia gitana, compar\u00e1ndola con casos no gitanos. se ha estudiado un grupo de 48 pacientes espa\u00f1oles con este s\u00edndrome (34 de etnia gitana), diagnosticados en base a criterios cl\u00ednicos y anal\u00edticos, procedentes de 17 hospitales espa\u00f1oles.  el presente estudio confirma la presencia de una \u00fanica mutaci\u00f3n (intr\u00f3n 9+1 g>t) en la etnia gitana. La somatometr\u00eda al diagn\u00f3stico en los casos de etnia gitana est\u00e1 por debajo de la media para la edad y sexo, con una mejor\u00eda significativa en el seguimiento. El principal s\u00edntoma referido por los pacientes gitanos es la presencia de cansancio excesivo, relacionado con hipopotasemia intensa y concentraciones elevadas de bicarbonato en sangre. El s\u00edndrome supone un problema moderado o grande para el 21% de los pacientes de etnia gitana; la calidad de vida no se relaciona con los valores anal\u00edticos.  las principales diferencias de los casos gitanos respecto a los no gitanos son la mayor frecuencia de cansancio excesivo al diagn\u00f3stico, la menor concentraci\u00f3n de magnesio sangu\u00edneo en el \u00faltimo control efectuado y la menor frecuencia de calambres musculares referidos por pacientes gitanos.  en nuestro estudio, los casos de s\u00edndrome de gitelman de sexo femenino no presentan una menor expresividad fenot\u00edpica.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>S\u00edndrome de gitelman en ni\u00f1os espa\u00f1oles. peculiaridades en la etnia gitana<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 S\u00edndrome de gitelman en ni\u00f1os espa\u00f1oles. peculiaridades en la etnia gitana <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Jos\u00e9 David Herrero Mor\u00edn <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Oviedo<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 30\/04\/2008<\/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>Fernando Santos Rodr\u00edguez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: seraf\u00edn M\u00e1laga guerrero <\/li>\n<li>eduardo Carbajo p\u00e9rez (vocal)<\/li>\n<li>enrique Garc\u00eda l\u00f3pez (vocal)<\/li>\n<li>Luis Casta\u00f1o gonzalez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Jos\u00e9 David Herrero Mor\u00edn El s\u00edndrome de gitelman es una tubulopat\u00eda renal caracterizada por alcalosis metab\u00f3lica, hipopotasemia [&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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