{"id":46,"date":"2025-02-12T12:48:41","date_gmt":"2025-02-12T12:48:41","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/?page_id=46"},"modified":"2025-04-03T17:36:14","modified_gmt":"2025-04-03T17:36:14","slug":"enfermedad-de-gaucher","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/es\/resources\/key-diseases\/gaucher-disease\/","title":{"rendered":"Enfermedad de Gaucher"},"content":{"rendered":"<section class=\"bloque-banner-titulo-page  estilo-grey\" id=\"\">\r\n    \r\n    <div class=\"image-wrapper\">\r\n\r\n      <!-- include mp4 video on a loop -->\r\n              <img decoding=\"async\" class=\"\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/csm_centogene-diagnostics-priority-disease-02_dd04b9ca99.webp\" alt=\"csm_centogene-diagnostics-priority-disease-02_dd04b9ca99\" \/>\r\n          <\/div>\r\n    <div class=\"container content-wrapper\">\r\n      <div class=\"row justify-content-start align-items-center\">\r\n\r\n\r\n        <div class=\"col-12 col-lg-6 animation fadeTop align-self-center\">\r\n                  <h1>Enfermedad de Gaucher<\/h1>\r\n          <h2 class=\"bl-texto\">La enfermedad de Gaucher (EG) es uno de los trastornos de almacenamiento lisosomal (LSD) de herencia recesiva m\u00e1s prevalentes. <\/h2>                            <\/div>\r\n\r\n      <\/div>\r\n    <\/div>\r\n\r\n<\/section>\r\n<div class=\"breadcrumbs\">\r\n    <div class=\"container\">\r\n      <div class=\"row\">\r\n        <div class=\"col-12\">\r\n          <ul id=\"breadcrumbs\" class=\"breadcrumbs\"><li><a href=\"https:\/\/www.centogene.com\/es\/\">Inicio<\/a><\/li><\/ul>        <\/div>\r\n      <\/div>\r\n    <\/div>\r\n<\/div>\r\n\r\n\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente-my\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:66.66%\">\n<h2 class=\"wp-block-heading\">\u00bfQu\u00e9 es la enfermedad de Gaucher?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">La EG se debe a una deficiencia de la enzima \u03b2-glucocerebrosidasa. La actividad enzim\u00e1tica deficiente provoca la acumulaci\u00f3n de glucosilceramida, el sustrato de la enzima, en los lisosomas celulares, principalmente en los macr\u00f3fagos. Estos macr\u00f3fagos, cargados de glucoesfingol\u00edpidos, se denominan c\u00e9lulas de Gaucher. Se acumulan en los tejidos viscerales, el h\u00edgado, el bazo y la m\u00e9dula \u00f3sea. Esta acumulaci\u00f3n causa diversos s\u00edntomas, como hepatoesplenomegalia y pancitopenia. Tambi\u00e9n causa complicaciones \u00f3seas como dolor \u00f3seo inespec\u00edfico, crisis \u00f3seas, necrosis avascular y fracturas patol\u00f3gicas. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">La EG es un trastorno autos\u00f3mico recesivo. Existen tres tipos de enfermedad de Gaucher. El tipo 1 representa casi el 90% de todos los casos y es com\u00fan entre los jud\u00edos asquenaz\u00edes. El tipo 2 se caracteriza por una aparici\u00f3n temprana y suele ser mortal a los 2 a\u00f1os de edad. El tipo 3 afecta el sistema nervioso con mayor gravedad que los tipos 1 y 2.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">En la enfermedad sintom\u00e1tica temprana, la terapia de reemplazo enzim\u00e1tico (TRE) es el est\u00e1ndar de atenci\u00f3n. La TRE mejora los s\u00edntomas relacionados con la EG y reduce significativamente las complicaciones de la enfermedad. La detecci\u00f3n de portadores de EG ha modificado el fenotipo de los ni\u00f1os con EG, muchos de los cuales son asintom\u00e1ticos o presentan s\u00edntomas leves al momento del diagn\u00f3stico.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">La glucosilesfingosina (liso-Gb1) es un producto metab\u00f3lico posterior de la glucosilceramida y se puede utilizar para monitorear a ni\u00f1os con DG tratados y no tratados.<sup>1<\/sup>&nbsp;&nbsp;<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocaja\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h5 class=\"wp-block-heading\">S\u00edntomas<\/h5>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Bazo agrandado<\/li>\n\n\n\n<li>H\u00edgado agrandado<\/li>\n\n\n\n<li>Trastornos del movimiento ocular<\/li>\n\n\n\n<li>Manchas amarillas en los ojos<\/li>\n\n\n\n<li>Anemia<\/li>\n\n\n\n<li>Fatiga<\/li>\n\n\n\n<li>Moretones<\/li>\n\n\n\n<li>Problemas pulmonares<\/li>\n\n\n\n<li>Convulsiones<\/li>\n<\/ul>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocolor\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n    <section class=\"bloque-personalizado bloque-cajas-imgs estilo-cajasblancas\" >\n        <div class=\"\"> \n            <div class=\"ref-arrows\" >             <div class=\"caja-wrapper-568 swiper\">\n\n            <div class=\"swiper-wrapper\" >                             \n                <div class=\"swiper-slide col-12 col-md-4 delay-1 caja\">\n                    <div class=\"caja-inner\" >\n                        <a href=\"https:\/\/www.centogene.com\/es\/farmaceutica\/lo-que-hacemos-por-la-industria-farmaceutica\/#partners\" target=\"_self\" class=\"\">                        <div class=\"bl-imagen animationNo scalexTop delay-1\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/csm_211118-centogene-images-styleguide-header-04_1a68185bb9-650x400.webp\" class=\"\" alt=\"\" \/> <\/div>                                               \n                        <\/a>                        \n                        <div class=\"caja-text\">\n                            <p class=\"prefijo\">Pharma<\/p>                            <h3 class=\"bl-titulo\">Fogonadura<\/h3>\n                            <p>CENTOGENE est\u00e1 trabajando junto con sus socios para identificar compuestos l\u00edderes y objetivos farmacol\u00f3gicos r\u00e1pidamente y reducir el riesgo del desarrollo de medicamentos hu\u00e9rfanos.<\/p>\n      \n                                                          <a target=\"_self\" href=\"https:\/\/www.centogene.com\/es\/farmaceutica\/lo-que-hacemos-por-la-industria-farmaceutica\/#partners\" class=\"btn btn-primary\">Conozca m\u00e1s sobre nuestros socios<\/a>\n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                            \n                <div class=\"swiper-slide col-12 col-md-4 delay-1 delay-2 caja\">\n                    <div class=\"caja-inner\" >\n                        <a href=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/centogene_downloads_cheatsheet_V2eng_Print_Web_20200706.pdf\" target=\"_blank\" class=\"\">                        <div class=\"bl-imagen animationNo scalexTop delay-2\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/csm_centogene-patients_what-we-do-for-patients-header-01_5410842a2a-650x400.webp\" class=\"\" alt=\"\" \/> <\/div>                                               \n                        <\/a>                        \n                        <div class=\"caja-text\">\n                            <p class=\"prefijo\">Pacientes<\/p>                            <h3 class=\"bl-titulo\">Asesoramiento gen\u00e9tico<\/h3>\n                            <p>CENTOGENE solo ofrece pruebas gen\u00e9ticas solicitadas por un m\u00e9dico. 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Tambi\u00e9n pueden ayudarle a comprender los resultados de sus pruebas gen\u00e9ticas y sus implicaciones.<\/p>\n<p>El siguiente formulario de preguntas y respuestas puede respaldar las conversaciones con su m\u00e9dico sobre las pruebas gen\u00e9ticas:<\/p>\n      \n                                                          <a target=\"_blank\" href=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/centogene_downloads_cheatsheet_V2eng_Print_Web_20200706.pdf\" class=\"btn btn-primary\">Qu\u00e9 preguntarle a su m\u00e9dico<\/a>\n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                                    <\/div>\n            <div class=\"swiper-pagination\"><\/div>\n\n          <\/div>\n          <div class=\"swiper-button-prev pre-568\"><\/div>\n          <div class=\"swiper-button-next next-568\"><\/div>   \n                       \n             \n            \n        <\/div>\n    <\/div>  \n<\/section>\n\n\n\n<script>\n    jQuery(document).ready(function(){\n    var swiper = new Swiper(\".caja-wrapper-568\", {\n      slidesPerView: 1,\n      spaceBetween: 10, \n      navigation: {\n        nextEl: \".next-568\",\n        prevEl: \".pre-568\",\n      },\n      \/\/navigation: false,\n      pagination: {\n        el: \".swiper-pagination\",\n        clickable: true\n      },\n      loop: false,\n      autoplay: {\n        delay: 2500,\n        disableOnInteraction: true,\n      },\n      breakpoints: {\n        640: {\n          slidesPerView: 1,\n          spaceBetween: 10,\n        },\n        768: {\n          slidesPerView: 2,\n          spaceBetween: 40,\n        },\n        1024: {\n          slidesPerView: 3,\n          spaceBetween: 40,\n        },\n        1200: {\n          slidesPerView: 3,\n          spaceBetween: 40,\n        },\n      },\n      on: {\n      slideChange: function(){\n          \/\/code\n      }\n    }\n    });\n});\n<\/script>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente-my\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                        <div class=\"row\">\r\n                <div class=\"col-12  col-md-8\">                     \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h5 class=\"wp-block-heading\">Notas al pie<\/h5>\n\n\n\n<p class=\"has-small-font-size wp-block-paragraph\"><sup>1<\/sup>Hurvitz, Noa et al. \u201cGlucosilesfingosina (liso-Gb1) como biomarcador para el seguimiento de ni\u00f1os con enfermedad de Gaucher tratados y no tratados\u201d. Revista internacional de ciencias moleculares, vol. 20, 12, 3033. 21 de junio de 2019, doi:10.3390\/ijms20123033<\/p>\n\n<\/div>\r\n          \r\n                                <\/div>\r\n            <\/div>            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n  <section class=\"bloque-personalizado bloque-contact-info\" >     \n    <h2 class=\"mt-3 mb-5\"><div style=\"margin: 3rem 0 \">Estamos aqu\u00ed para ayudarte<p style=\"font-size: 1.2rem; margin-top: 1rem; margin-bottom: 1.5rem;\">Nuestro equipo de atenci\u00f3n al cliente y expertos que te guiar\u00e1n en cada paso del proceso.<\/p><a class=\"btn btn-primary\" style=\"margin: .5rem\" href=\"mailto:customer.support@centogene.com\">Env\u00edanos un mensaje<\/a><a 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