{"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":"choroba-gauchera","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/pl\/resources\/key-diseases\/gaucher-disease\/","title":{"rendered":"Choroba Gauchera"},"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-diagnostyka-priorytet-choroba-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>Choroba Gauchera<\/h1>\r\n          <h2 class=\"bl-texto\">Choroba Gauchera (GD) nale\u017cy do najcz\u0119\u015bciej wyst\u0119puj\u0105cych, dziedziczonych recesywnie chor\u00f3b spichrzeniowych lizosom\u00f3w (LSD). <\/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\/pl\/\">Dom<\/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\">Czym jest choroba Gauchera<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Choroba Gauchera jest spowodowana niedoborem enzymu \u03b2-glukocerebrozydazy. Niedob\u00f3r aktywno\u015bci enzymu powoduje gromadzenie si\u0119 glukozyloceramidu, substratu enzymu, w lizosomach kom\u00f3rkowych, przede wszystkim w makrofagach. Te makrofagi wype\u0142nione glikosfingolipidami nazywane s\u0105 kom\u00f3rkami Gauchera. Gromadz\u0105 si\u0119 one w tkankach trzewnych, w\u0105trobie, \u015bledzionie i szpiku kostnym. Gromadzenie si\u0119 tych makrofag\u00f3w powoduje szereg objaw\u00f3w, w tym hepatosplenomegali\u0119 i pancytopeni\u0119. Powoduje r\u00f3wnie\u017c powik\u0142ania kostne, takie jak nieswoiste b\u00f3le kostne, prze\u0142omy kostne, martwica ja\u0142owa i z\u0142amania patologiczne. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">GD to choroba dziedziczona autosomalnie recesywnie. Istniej\u0105 trzy typy choroby Gauchera. Typ 1 stanowi prawie 90% wszystkich przypadk\u00f3w i jest powszechnie spotykany w\u015br\u00f3d \u017byd\u00f3w aszkenazyjskich. Typ 2 charakteryzuje si\u0119 wczesnym pocz\u0105tkiem i zazwyczaj ko\u0144czy si\u0119 \u015bmierci\u0105 do 2. roku \u017cycia. Typ 3 atakuje uk\u0142ad nerwowy ci\u0119\u017cej ni\u017c typy 1 i 2.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">W przypadku wczesnej, objawowej choroby, standardem leczenia jest enzymatyczna terapia zast\u0119pcza (ERT). ERT \u0142agodzi objawy zwi\u0105zane z GD i znacz\u0105co zmniejsza powik\u0142ania choroby. Badania przesiewowe w kierunku nosicielstwa GD zmieni\u0142y fenotyp dzieci z GD, z kt\u00f3rych wiele w momencie rozpoznania jest bezobjawowych lub ma \u0142agodne objawy.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Glukozylosfingozyna (lizo-Gb1) jest produktem metabolizmu glukozyloceramidu i mo\u017ce by\u0107 stosowana w celu monitorowania leczonych i nieleczonych dzieci z chorob\u0105 GD.<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\">Objawy<\/h5>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Powi\u0119kszona \u015bledziona<\/li>\n\n\n\n<li>Powi\u0119kszona w\u0105troba<\/li>\n\n\n\n<li>Zaburzenia ruchu ga\u0142ek ocznych<\/li>\n\n\n\n<li>\u017b\u00f3\u0142te plamy w oczach<\/li>\n\n\n\n<li>Niedokrwisto\u015b\u0107<\/li>\n\n\n\n<li>Zm\u0119czenie<\/li>\n\n\n\n<li>Siniaki<\/li>\n\n\n\n<li>Problemy z p\u0142ucami<\/li>\n\n\n\n<li>Napady padaczkowe<\/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-645 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\/pl\/farmaceutyka\/co-robimy-dla-branzy-farmaceutycznej\/#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\">Farmacja<\/p>                            <h3 class=\"bl-titulo\">Wzmacniacz<\/h3>\n                            <p>CENTOGENE wsp\u00f3\u0142pracuje z partnerami w celu szybkiej identyfikacji zwi\u0105zk\u00f3w wiod\u0105cych i cel\u00f3w lek\u00f3w oraz zmniejszenia ryzyka zwi\u0105zanego z rozwojem lek\u00f3w sierocych.<\/p>\n      \n                                                          <a target=\"_self\" href=\"https:\/\/www.centogene.com\/pl\/farmaceutyka\/co-robimy-dla-branzy-farmaceutycznej\/#partners\" class=\"btn btn-primary\">Dowiedz si\u0119 wi\u0119cej o naszych partnerach<\/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\">Pacjenci<\/p>                            <h3 class=\"bl-titulo\">Poradnictwo genetyczne<\/h3>\n                            <p>CENTOGENE wykonuje wy\u0142\u0105cznie testy genetyczne zlecone przez lekarza. Wyniki test\u00f3w genetycznych mog\u0105 mie\u0107 ogromny wp\u0142yw na Twoje \u017cycie. Zdecydowanie zalecamy skorzystanie z poradnictwa genetycznego. Konsultanci mog\u0105 doradzi\u0107 Tobie i Twojej rodzinie, czy warto wykona\u0107 test genetyczny. Mog\u0105 r\u00f3wnie\u017c pom\u00f3c Ci zrozumie\u0107 wyniki test\u00f3w genetycznych i ich implikacje.<\/p>\n<p>Poni\u017cszy formularz pyta\u0144 i odpowiedzi mo\u017ce okaza\u0107 si\u0119 pomocny w rozmowie z lekarzem na temat bada\u0144 genetycznych:<\/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 co pyta\u0107 lekarza<\/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-645\"><\/div>\n          <div class=\"swiper-button-next next-645\"><\/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-645\", {\n      slidesPerView: 1,\n      spaceBetween: 10, \n      navigation: {\n        nextEl: \".next-645\",\n        prevEl: \".pre-645\",\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\">Przypisy<\/h5>\n\n\n\n<p class=\"has-small-font-size wp-block-paragraph\"><sup>1<\/sup>Hurvitz, Noa i in. \u201cGlukozylosfingozyna (lizo-Gb1) jako biomarker do monitorowania leczonych i nieleczonych dzieci z chorob\u0105 Gauchera\u201d. International Journal of Molecular Sciences, tom 20, nr 12, 3033. 21 czerwca 2019 r., 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 \">Jeste\u015bmy tutaj, aby Ci\u0119 prowadzi\u0107<p style=\"font-size: 1.2rem; margin-top: 1rem; margin-bottom: 1.5rem;\">Nasza globalna sie\u0107 obs\u0142ugi klienta i ekspert\u00f3w b\u0119dzie Ci\u0119 wspiera\u0107 na ka\u017cdym kroku.<\/p><a class=\"btn btn-primary\" style=\"margin: .5rem\" href=\"mailto:customer.support@centogene.com\">Wy\u015blij nam wiadomo\u015b\u0107<\/a><a class=\"btn btn-2\" style=\"margin: .5rem\" href=\"https:\/\/www.centogene.com\/pl\/o-nas\/skontaktuj-sie-z-nami\/\">Wsparcie regionalne<\/a><\/div><\/h2>   \n    <div class=\"row justify-content-center bordesverticales\"> \n        <div class=\"bl-texto col-12 col-md-3\">\n                 <\/div>\n        <div class=\"bl-texto  col-12 col-md-2\">\n          \n        <\/div>\n        <div class=\"bl-texto  col-12 col-md-3\">\n                  <\/div>\n    <\/div>\n  <\/section>  \n\n  \n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":0,"parent":2035,"menu_order":30,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-46","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gaucher Disease | CENTOGENE<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.centogene.com\/pl\/zasoby\/kluczowe-choroby\/choroba-gauchera\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gaucher Disease | CENTOGENE\" \/>\n<meta property=\"og:url\" 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