{"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":"%e9%ab%98%e9%9b%aa%e6%b0%8f%e7%97%87","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/tw\/resources\/key-diseases\/gaucher-disease\/","title":{"rendered":"\u9ad8\u96ea\u6c0f\u75c7<br>\nGaucher's Disease"},"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>\u9ad8\u96ea\u6c0f\u75c7<br>\nGaucher's Disease<\/h1>\r\n          <h2 class=\"bl-texto\">\u9ad8\u96ea\u6c0f\u75c7\uff08Gaucher Disease, GD\uff09\u662f\u6700\u5e38\u898b\u7684\u6eb6\u9176\u9ad4\u5132\u7a4d\u75c7\uff08Lysosomal Storage Disorders, LSDs\uff09\u4e4b\u4e00\uff0c\u5c6c\u65bc\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\u75be\u75c5\u3002 <\/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\/tw\/\">\u9996\u9801<\/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\">\u4ec0\u9ebc\u662f\u9ad8\u96ea\u6c0f\u75c7\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u9ad8\u96ea\u6c0f\u75c7\u662f\u7531\u03b2-\u8461\u8404\u7cd6\u8166\u82f7\u8102\u9176\uff08\u03b2-glucocerebrosidase\uff09\u7f3a\u4e4f\u6240\u5f15\u8d77\u3002\n\n\u7576\u6b64\u9175\u7d20\u6d3b\u6027\u4e0d\u8db3\u6642\uff0c\u5176\u53d7\u8cea\u8461\u8404\u7cd6\u8166\u82f7\u8102\uff08Glucosylceramide\uff09\u7121\u6cd5\u6b63\u5e38\u5206\u89e3\uff0c\u9010\u6f38\u5806\u7a4d\u65bc\u7d30\u80de\u5167\u7684\u6eb6\u9176\u9ad4\u4e2d\uff0c\u5c24\u5176\u5bb9\u6613\u7d2f\u7a4d\u65bc\u5de8\u566c\u7d30\u80de\uff08Macrophages\uff09\u5167\u3002\n\n\u9019\u4e9b\u5145\u6eff\u91a3\u9798\u8102\uff08Glycosphingolipids\uff09\u7684\u5de8\u566c\u7d30\u80de\u7a31\u70ba\u9ad8\u96ea\u6c0f\u7d30\u80de\uff08Gaucher Cells\uff09\uff0c\u4e3b\u8981\u5806\u7a4d\u65bc\uff1a\n\n\u809d\u81df\u3001\n\u813e\u81df\u3001\n\u9aa8\u9ad3\u3001\n\u5176\u4ed6\u5167\u81df\u7d44\u7e54\u3002\n\n\u9019\u4e9b\u5806\u7a4d\u6703\u9020\u6210\u591a\u7a2e\u81e8\u5e8a\u75c7\u72c0\uff0c\u5305\u62ec\uff1a\n\n\u809d\u813e\u816b\u5927\uff08Hepatosplenomegaly\uff09\u3001\n\u5168\u8840\u7403\u6e1b\u5c11\u75c7\uff08Pancytopenia\uff09\u3002\n\n\u6b64\u5916\uff0c\u4e5f\u53ef\u80fd\u5c0e\u81f4\u591a\u7a2e\u9aa8\u9abc\u76f8\u95dc\u4f75\u767c\u75c7\uff0c\u4f8b\u5982\uff1a\n\n\u975e\u7279\u7570\u6027\u9aa8\u75db\u3001\n\u9aa8\u5371\u8c61\uff08Bone Crisis\uff09\u3001\n\u7f3a\u8840\u6027\u9aa8\u58de\u6b7b\uff08Avascular Necrosis\uff09\u3001\n\u75c5\u7406\u6027\u9aa8\u6298\uff08Pathologic Fractures\uff09\u3002 <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u9ad8\u96ea\u6c0f\u75c7\u5c6c\u65bc\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\u75be\u75c5\uff0c\u4f9d\u81e8\u5e8a\u8868\u73fe\u53ef\u5206\u70ba\u4e09\u7a2e\u985e\u578b\uff1a\n\n\u7b2c\u4e00\u578b\uff08Type 1\uff09\uff1a\n\u7d04\u5360 90% \u7684\u9ad8\u96ea\u6c0f\u75c7\u75c5\u4f8b\u3001\n\u6700\u5e38\u898b\u65bc\u5fb7\u7cfb\u7336\u592a\u4eba\uff08Ashkenazi Jews\uff09\u3001\n\u901a\u5e38\u4e0d\u4fb5\u72af\u4e2d\u6a1e\u795e\u7d93\u7cfb\u7d71\uff1b\n\u7b2c\u4e8c\u578b\uff08Type 2\uff09\uff1a\n\u5b30\u5e7c\u5152\u65e9\u767c\u578b\u3001\n\u75c5\u7a0b\u9032\u5c55\u5feb\u901f\u3001\n\u591a\u6578\u60a3\u8005\u65bc 2 \u6b72\u524d\u6b7b\u4ea1\uff1b\n\u7b2c\u4e09\u578b\uff08Type 3\uff09\uff1a\n\u795e\u7d93\u7cfb\u7d71\u53d7\u7d2f\u7a0b\u5ea6\u9ad8\u65bc\u7b2c\u4e00\u578b\u3001\n\u517c\u5177\u5167\u81df\u53ca\u795e\u7d93\u5b78\u75c7\u72c0\u3002&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u5c0d\u65bc\u5df2\u51fa\u73fe\u75c7\u72c0\u7684\u60a3\u8005\uff0c\u9175\u7d20\u66ff\u4ee3\u6cbb\u7642\uff08Enzyme Replacement Therapy, ERT\uff09\u70ba\u76ee\u524d\u7684\u6a19\u6e96\u6cbb\u7642\u65b9\u5f0f\u3002\n\nERT \u53ef\u6709\u6548\uff1a\n\n\u6539\u5584\u9ad8\u96ea\u6c0f\u75c7\u76f8\u95dc\u75c7\u72c0\u3001\n\u986f\u8457\u964d\u4f4e\u75be\u75c5\u4f75\u767c\u75c7\u3001\n\u5ef6\u7de9\u75be\u75c5\u9032\u5c55\u3002\n\n\u8fd1\u5e74\u4f86\uff0c\u9ad8\u96ea\u6c0f\u75c7\u5e36\u56e0\u8005\u7be9\u6aa2\uff08Carrier Screening\uff09\u7684\u666e\u53ca\uff0c\u4e5f\u4f7f\u8a31\u591a\u60a3\u8005\u80fd\u5728\u75be\u75c5\u65e9\u671f\u5373\u88ab\u767c\u73fe\uff0c\u56e0\u6b64\u8d8a\u4f86\u8d8a\u591a\u5152\u7ae5\u60a3\u8005\u65bc\u8a3a\u65b7\u6642\u50c5\u6709\u8f15\u5fae\u75c7\u72c0\uff0c\u751a\u81f3\u5c1a\u672a\u51fa\u73fe\u81e8\u5e8a\u8868\u73fe\u3002&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u8461\u8404\u7cd6\u9798\u6c28\u9187\uff08Glucosylsphingosine\uff0cLyso-Gb1\uff09\u70ba\u8461\u8404\u7cd6\u8166\u82f7\u8102\u4ee3\u8b1d\u5f8c\u7684\u4e0b\u6e38\u7522\u7269\uff0c\u76ee\u524d\u5df2\u88ab\u5ee3\u6cdb\u4f5c\u70ba\u9ad8\u96ea\u6c0f\u75c7\u7684\u91cd\u8981\u751f\u7269\u6a19\u8a18\uff0c\u53ef\u7528\u65bc\u76e3\u6e2c\u63a5\u53d7\u6216\u5c1a\u672a\u63a5\u53d7\u6cbb\u7642\u4e4b\u5152\u7ae5\u60a3\u8005\u7684\u75be\u75c5\u72c0\u614b\u8207\u6cbb\u7642\u53cd\u61c9\u3002<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\">\u5e38\u898b\u75c7\u72c0<\/h5>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u813e\u81df\u816b\u5927<\/li>\n\n\n\n<li>\u809d\u81df\u816b\u5927<\/li>\n\n\n\n<li>\u773c\u7403\u904b\u52d5\u7570\u5e38<\/li>\n\n\n\n<li>\u773c\u5e95\u9ec3\u8272\u6591\u9ede<\/li>\n\n\n\n<li>\u8ca7\u8840<\/li>\n\n\n\n<li>\u5bb9\u6613\u75b2\u52de<\/li>\n\n\n\n<li>\u5bb9\u6613\u7600\u9752<\/li>\n\n\n\n<li>\u80ba\u90e8\u554f\u984c<\/li>\n\n\n\n<li>\u7672\u7647\u767c\u4f5c<\/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-172 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\/tw\/%e8%a3%bd%e8%97%a5\/%e6%88%91%e5%80%91%e5%a6%82%e4%bd%95%e5%8d%94%e5%8a%a9%e8%a3%bd%e8%97%a5%e7%94%a2%e6%a5%ad\/#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\">\u88fd\u85e5\u5408\u4f5c<\/p>                            <h3 class=\"bl-titulo\">\u5408\u4f5c\u5925\u4f34<\/h3>\n                            <p>CENTOGENE \u8207\u5168\u7403\u5408\u4f5c\u5925\u4f34\u651c\u624b\u5408\u4f5c\uff0c\u52a0\u901f\u5148\u5c0e\u5316\u5408\u7269\uff08Lead Compounds\uff09\u53ca\u85e5\u7269\u4f5c\u7528\u6a19\u7684\uff08Drug Targets\uff09\u7684\u767c\u6398\uff0c\u964d\u4f4e\u5b64\u5152\u85e5\uff08Orphan Drug\uff09\u958b\u767c\u98a8\u96aa\u3002<\/p>\n      \n                                                          <a target=\"_self\" href=\"https:\/\/www.centogene.com\/tw\/%e8%a3%bd%e8%97%a5\/%e6%88%91%e5%80%91%e5%a6%82%e4%bd%95%e5%8d%94%e5%8a%a9%e8%a3%bd%e8%97%a5%e7%94%a2%e6%a5%ad\/#partners\" class=\"btn btn-primary\">\u4e86\u89e3\u66f4\u591a\u5408\u4f5c\u5925\u4f34\u8cc7\u8a0a<\/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\">\u60a3\u8005\u8cc7\u6599<\/p>                            <h3 class=\"bl-titulo\">\u907a\u50b3\u8aee\u8a62<\/h3>\n                            <p>CENTOGENE \u63d0\u4f9b\u7684\u57fa\u56e0\u6aa2\u6e2c\u7686\u9808\u7531\u91ab\u5e2b\u958b\u7acb\u7533\u8acb\u3002\n\n\u57fa\u56e0\u6aa2\u6e2c\u7d50\u679c\u53ef\u80fd\u5c0d\u60a3\u8005\u53ca\u5176\u5bb6\u5ead\u7522\u751f\u6df1\u9060\u5f71\u97ff\uff0c\u56e0\u6b64\u6211\u5011\u5efa\u8b70\u5728\u63a5\u53d7\u6aa2\u6e2c\u524d\u5f8c\uff0c\u5c0b\u6c42\u5c08\u696d\u907a\u50b3\u8aee\u8a62\u3002\n\n\u907a\u50b3\u8aee\u8a62\u5e2b\u53ef\u5354\u52a9\u60a8\u53ca\u5bb6\u4eba\u8a55\u4f30\u662f\u5426\u9069\u5408\u63a5\u53d7\u57fa\u56e0\u6aa2\u6e2c\uff0c\u4e26\u5354\u52a9\u7406\u89e3\u6aa2\u6e2c\u7d50\u679c\u53ca\u5176\u53ef\u80fd\u5e36\u4f86\u7684\u5f71\u97ff\u3002<\/p>\n<p>\u4ee5\u4e0b\u554f\u7b54\u5167\u5bb9\u53ef\u4f5c\u70ba\u8207\u91ab\u5e2b\u8a0e\u8ad6\u57fa\u56e0\u6aa2\u6e2c\u6642\u7684\u53c3\u8003\uff1a<\/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\">\u8207\u91ab\u5e2b\u8a0e\u8ad6\u57fa\u56e0\u6aa2\u6e2c\u6642\u53ef\u4ee5\u8a62\u554f\u54ea\u4e9b\u554f\u984c\uff1f<\/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-172\"><\/div>\n          <div class=\"swiper-button-next next-172\"><\/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-172\", {\n      slidesPerView: 1,\n 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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\">\u8a3b\u8173<\/h5>\n\n\n\n<p class=\"has-small-font-size wp-block-paragraph\"><sup>1<\/sup>Hurvitz, Noa et al. \u201cGlucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease.\u201d International journal of molecular sciences vol. 20,12 3033. 21 Jun. 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    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