{"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":"doenca-de-gaucher","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/pt\/resources\/key-diseases\/gaucher-disease\/","title":{"rendered":"Doen\u00e7a 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>Doen\u00e7a de Gaucher<\/h1>\r\n          <h2 class=\"bl-texto\">A doen\u00e7a de Gaucher (DG) est\u00e1 entre as doen\u00e7as de armazenamento lisoss\u00f4mico (DAL) mais prevalentes, com heran\u00e7a recessiva. <\/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\/pt\/\">Home<\/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\">O que \u00e9 a doen\u00e7a de Gaucher?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">A doen\u00e7a de Gaucher (DG) \u00e9 causada pela defici\u00eancia da enzima \u03b2-glicocerebrosidase. A atividade enzim\u00e1tica deficiente leva ao ac\u00famulo de glicosilceramida, o substrato da enzima, nos lisossomos celulares, principalmente nos macr\u00f3fagos. Esses macr\u00f3fagos carregados de glicoesfingolip\u00eddios s\u00e3o chamados de c\u00e9lulas de Gaucher. Eles se acumulam nos tecidos viscerais, f\u00edgado, ba\u00e7o e medula \u00f3ssea. O ac\u00famulo causa uma s\u00e9rie de sintomas, incluindo hepatoesplenomegalia e pancitopenia. Tamb\u00e9m causa complica\u00e7\u00f5es \u00f3sseas, como dor \u00f3ssea inespec\u00edfica, crises \u00f3sseas, necrose avascular e fraturas patol\u00f3gicas. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">A doen\u00e7a de Gaucher (DG) \u00e9 uma doen\u00e7a autoss\u00f4mica recessiva. Existem tr\u00eas tipos de doen\u00e7a de Gaucher. O tipo 1 representa quase 90% de todos os casos e \u00e9 comum entre judeus asquenazes. O tipo 2 caracteriza-se pelo in\u00edcio precoce e geralmente \u00e9 fatal antes dos 2 anos de idade. O tipo 3 afeta o sistema nervoso de forma mais grave do que os tipos 1 e 2.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Nos est\u00e1gios iniciais da doen\u00e7a sintom\u00e1tica, a terapia de reposi\u00e7\u00e3o enzim\u00e1tica (TRE) \u00e9 o tratamento padr\u00e3o. A TRE melhora os sintomas relacionados \u00e0 doen\u00e7a de Graves e reduz significativamente as complica\u00e7\u00f5es da doen\u00e7a. O rastreio de portadores da doen\u00e7a de Graves alterou o fen\u00f3tipo das crian\u00e7as com a doen\u00e7a, sendo muitas assintom\u00e1ticas ou apresentando sintomas leves no momento do diagn\u00f3stico.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">A glicosilfingosina (liso-Gb1) \u00e9 um produto metab\u00f3lico derivado da glicosilceramida e pode ser usada para monitorar crian\u00e7as com doen\u00e7a de Graves, tanto em tratamento quanto em casos n\u00e3o 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\">Sintomas<\/h5>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Ba\u00e7o aumentado<\/li>\n\n\n\n<li>F\u00edgado aumentado<\/li>\n\n\n\n<li>Dist\u00farbios do movimento ocular<\/li>\n\n\n\n<li>Manchas amarelas nos olhos<\/li>\n\n\n\n<li>Anemia<\/li>\n\n\n\n<li>Fadiga<\/li>\n\n\n\n<li>Hematomas<\/li>\n\n\n\n<li>Problemas pulmonares<\/li>\n\n\n\n<li>Convuls\u00f5es<\/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-166 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\/pt\/farmaceutica\/o-que-fazemos-pela-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\">Farmac\u00eautica<\/p>                            <h3 class=\"bl-titulo\">Parceiros<\/h3>\n                            <p>A CENTOGENE est\u00e1 trabalhando em conjunto com parceiros para identificar rapidamente compostos l\u00edderes e alvos terap\u00eauticos, reduzindo os riscos no desenvolvimento de medicamentos \u00f3rf\u00e3os.<\/p>\n      \n                                                          <a target=\"_self\" href=\"https:\/\/www.centogene.com\/pt\/farmaceutica\/o-que-fazemos-pela-industria-farmaceutica\/#partners\" class=\"btn btn-primary\">Saiba mais sobre nossos parceiros.<\/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\">Aconselhamento Gen\u00e9tico<\/h3>\n                            <p>A CENTOGENE s\u00f3 realiza testes gen\u00e9ticos solicitados por um m\u00e9dico. Os resultados dos testes gen\u00e9ticos podem ter um impacto profundo na sua vida. Recomendamos fortemente que voc\u00ea procure aconselhamento gen\u00e9tico. Os profissionais de aconselhamento podem orientar voc\u00ea e sua fam\u00edlia sobre a conveni\u00eancia de realizar um teste gen\u00e9tico. Eles tamb\u00e9m podem ajud\u00e1-lo a compreender os resultados do seu teste gen\u00e9tico e suas implica\u00e7\u00f5es.<\/p>\n<p>O formul\u00e1rio de perguntas e respostas a seguir pode auxiliar nas discuss\u00f5es com seu m\u00e9dico sobre testes gen\u00e9ticos:<\/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\">O que perguntar ao seu 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-166\"><\/div>\n          <div 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