{"id":604,"date":"2025-02-25T16:02:54","date_gmt":"2025-02-25T16:02:54","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/?page_id=604"},"modified":"2025-04-03T17:35:23","modified_gmt":"2025-04-03T17:35:23","slug":"%e5%b0%bc%e6%9b%bcc%e5%9e%8b%e9%95%90","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/zh\/resources\/key-diseases\/niemann-pick-type-c\/","title":{"rendered":"\u5c3c\u66fc-\u5339\u514bC\u578b"},"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-03_2fd66ba626.webp\" alt=\"csm_centogene-diagnostics-priority-disease-03_2fd66ba626\" \/>\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>\u5c3c\u66fc-\u5339\u514bC\u578b<\/h1>\r\n          <h2 class=\"bl-texto\">\u5c3c\u66fc-\u5339\u514b\u75c5 C \u578b (NPC) \u662f\u4e00\u79cd\u8fdb\u5c55\u7f13\u6162\u7684\u75be\u75c5\uff0c\u5176\u4e3b\u8981\u7279\u5f81\u662f\u6eb6\u9176\u4f53\u4e2d\u8102\u8d28\u7684\u79ef\u7d2f\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\/zh\/\">\u5bb6<\/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\u4e48\u662f\u5c3c\u66fc-\u5339\u514b\u75c5C\u578b\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u5c3c\u66fc-\u5339\u514b\u75c5C\u578b\uff08NPC\uff09\u662f\u4e00\u79cd\u8fdb\u5c55\u7f13\u6162\u7684\u75be\u75c5\uff0c\u5176\u4e3b\u8981\u7279\u5f81\u662f\u6eb6\u9176\u4f53\u4e2d\u8102\u8d28\u7684\u79ef\u7d2f\u3002\u75c7\u72b6\u4e0e\u5e74\u9f84\u76f8\u5173\u3002\u5a74\u513f\u671f\u7684\u4e34\u5e8a\u4f53\u5f81\u4e3b\u8981\u5c40\u9650\u4e8e\u5185\u810f\uff0c\u8868\u73b0\u4e3a\u809d\u813e\u80bf\u5927\u3001\u9ec4\u75b8\uff0c\u4ee5\u53ca\uff08\u5728\u67d0\u4e9b\u60c5\u51b5\u4e0b\uff09\u80ba\u90e8\u6d78\u6da6\u3002\u5a74\u513f\u540e\u671f\u4e4b\u540e\uff0c\u795e\u7ecf\u7cfb\u7edf\u75c7\u72b6\u5f00\u59cb\u51fa\u73b0\u3002\u5178\u578b\u7684\u4e34\u5e8a\u8868\u73b0\u51fa\u73b0\u5728\u513f\u7ae5\u4e2d\u671f\u81f3\u665a\u671f\uff0c\u8868\u73b0\u4e3a\u5171\u6d4e\u5931\u8c03\u3001\u5782\u76f4\u6027\u6838\u4e0a\u6027\u51dd\u89c6\u9ebb\u75f9\u548c\u75f4\u5446\u3002\u808c\u5f20\u529b\u969c\u788d\u548c\u766b\u75eb\u53d1\u4f5c\u662f\u5e38\u89c1\u75c7\u72b6\u3002\u6210\u5e74\u60a3\u8005\u53ef\u80fd\u51fa\u73b0\u75f4\u5446\u6216\u7cbe\u795e\u75c7\u72b6\u3002.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">NPC \u4ee5\u5e38\u67d3\u8272\u4f53\u9690\u6027\u65b9\u5f0f\u9057\u4f20\u3002\u5b83\u662f\u7531 NPC1 \u57fa\u56e0\uff0895% \u75c5\u4f8b\uff09\u6216 NPC2 \u57fa\u56e0\uff085% \u75c5\u4f8b\uff09\u7684\u7a81\u53d8\u5f15\u8d77\u7684\u3002.&nbsp;<\/h3>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">\u5927\u591a\u6570NPC1\u75c5\u4f8b\u6d89\u53ca\u5355\u6838\u82f7\u9178\u53d8\u5f02\u7684\u590d\u5408\u6742\u5408\u5b50\u3002&lt;sup&gt; <sup>12&lt;\/sup&gt;<\/sup>\u8fc4\u4eca\u4e3a\u6b62\uff0c\u5df2\u5728NPC1\u4e2d\u63cf\u8ff0\u4e86\u8d85\u8fc7511\u79cd\u5bfc\u81f4\u5c3c\u66fc-\u5339\u514b\u75c5C\u578b\u7684\u53d8\u5f02\uff0c\u5728NPC2\u4e2d\u63cf\u8ff0\u4e86\u8d85\u8fc727\u79cd\u4e0d\u540c\u7684\u53d8\u5f02\u3002&lt;sup&gt; <sup>3&lt;\/sup&gt;<\/sup><\/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\">\u75c7\u72b6<\/h5>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u809d\u813e\u80bf\u5927<\/li>\n\n\n\n<li>\u534f\u8c03\u52a8\u4f5c\u56f0\u96be\uff08<a href=\"http:\/\/www.childrenshospital.org\/conditions-and-treatments\/conditions\/m\/movement-disorders\/symptoms-and-causes\" target=\"_blank\" rel=\"noreferrer noopener\">\u5171\u6d4e\u5931\u8c03<\/a>)<\/li>\n\n\n\n<li>\u773c\u7403\u8fd0\u52a8\u5f02\u5e38\uff08\u5782\u76f4\u6027\u6838\u4e0a\u6027\u51dd\u89c6\u9ebb\u75f9\uff09<\/li>\n\n\n\n<li>\u808c\u8089\u5f20\u529b\u5dee\uff08<a href=\"http:\/\/www.childrenshospital.org\/conditions-and-treatments\/conditions\/m\/muscle-weakness-hypotonia\" target=\"_blank\" rel=\"noreferrer noopener\">\u808c\u5f20\u529b\u4f4e\u4e0b<\/a>)<\/li>\n\n\n\n<li>\u4e25\u91cd\u809d\u75c5<\/li>\n\n\n\n<li>\u9891\u7e41\u7684\u547c\u5438\u9053\u611f\u67d3<\/li>\n\n\n\n<li>\u8a00\u8bed\u969c\u788d<\/li>\n\n\n\n<li>\u541e\u54bd\u548c\u8fdb\u98df\u56f0\u96be<\/li>\n\n\n\n<li>\u8ba4\u77e5\u80fd\u529b\u4e27\u5931<\/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-976 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\/zh\/%e5%88%b6%e8%8d%af\/%e6%88%91%e4%bb%ac%e4%b8%ba%e5%88%b6%e8%8d%af%e8%a1%8c%e4%b8%9a%e6%89%80%e5%81%9a%e7%9a%84%e4%b8%80%e5%88%87\/#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\">\u5236\u836f<\/p>                            <h3 class=\"bl-titulo\">\u5408\u4f5c\u4f19\u4f34<\/h3>\n                            <p>CENTOGENE \u4e0e\u5408\u4f5c\u4f19\u4f34\u5171\u540c\u52aa\u529b\uff0c\u5feb\u901f\u786e\u5b9a\u5148\u5bfc\u5316\u5408\u7269\u548c\u836f\u7269\u9776\u70b9\uff0c\u964d\u4f4e\u5b64\u513f\u836f\u5f00\u53d1\u7684\u98ce\u9669\u3002.<\/p>\n      \n                                                          <a target=\"_self\" href=\"https:\/\/www.centogene.com\/zh\/%e5%88%b6%e8%8d%af\/%e6%88%91%e4%bb%ac%e4%b8%ba%e5%88%b6%e8%8d%af%e8%a1%8c%e4%b8%9a%e6%89%80%e5%81%9a%e7%9a%84%e4%b8%80%e5%88%87\/#partners\" class=\"btn btn-primary\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u6211\u4eec\u5408\u4f5c\u4f19\u4f34\u7684\u4fe1\u606f<\/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<\/p>                            <h3 class=\"bl-titulo\">\u9057\u4f20\u54a8\u8be2<\/h3>\n                            <p>CENTOGENE \u4ec5\u63d0\u4f9b\u7531\u533b\u751f\u5f00\u5177\u7684\u57fa\u56e0\u68c0\u6d4b\u3002\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u53ef\u80fd\u5bf9\u60a8\u7684\u751f\u6d3b\u4ea7\u751f\u6df1\u8fdc\u5f71\u54cd\u3002\u6211\u4eec\u5f3a\u70c8\u5efa\u8bae\u60a8\u5bfb\u6c42\u9057\u4f20\u54a8\u8be2\u3002\u54a8\u8be2\u5e08\u53ef\u4ee5\u4e3a\u60a8\u548c\u60a8\u7684\u5bb6\u4eba\u63d0\u4f9b\u662f\u5426\u8fdb\u884c\u57fa\u56e0\u68c0\u6d4b\u7684\u5efa\u8bae\uff0c\u5e76\u5e2e\u52a9\u60a8\u7406\u89e3\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u53ca\u5176\u610f\u4e49\u3002.<\/p>\n<p>\u4ee5\u4e0b\u95ee\u7b54\u8868\u683c\u53ef\u4ee5\u5e2e\u52a9\u60a8\u4e0e\u533b\u751f\u8ba8\u8bba\u57fa\u56e0\u68c0\u6d4b\u76f8\u5173\u4e8b\u5b9c\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\">\u5e94\u8be5\u95ee\u533b\u751f\u4ec0\u4e48\u95ee\u9898<\/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-976\"><\/div>\n          <div class=\"swiper-button-next next-976\"><\/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-976\", {\n      slidesPerView: 1,\n      spaceBetween: 10, \n      navigation: {\n        nextEl: \".next-976\",\n        prevEl: \".pre-976\",\n      },\n      \/\/navigation: false,\n      pagination: {\n        el: 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col-md-8\">                     \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h5 class=\"wp-block-heading\">\u811a\u6ce8<\/h5>\n\n\n\n<p class=\"wp-block-paragraph\"><sup>1<\/sup>Park, Walter D \u7b49\u3002\u201c\u5c3c\u66fc-\u5339\u514b\u75c5C\u578b58\u4e2a\u65b0\u7a81\u53d8\u7684\u9274\u5b9a\uff1a\u4e0e\u751f\u5316\u8868\u578b\u7684\u76f8\u5173\u6027\u4ee5\u53caNPC1\u4e2dPTC1\u6837\u7ed3\u6784\u57df\u7684\u91cd\u8981\u6027\u3002\u201d\u300a\u4eba\u7c7b\u7a81\u53d8\u300b22\u53774\u671f\uff082003\uff09\uff1a313-25\u3002doi:10.1002\/humu.10255<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><sup>2<\/sup>Millat, Gilles \u7b49\u3002\u201c\u5c3c\u66fc-\u5339\u514bC\u578b\u75c5\uff1a\u53d8\u6027\u9ad8\u6548\u6db2\u76f8\u8272\u8c31\u6cd5\u68c0\u6d4bNPC1\u548cNPC2\u57fa\u56e0\u53d8\u5f02\u53ca\u5176\u5bf9\u60a3\u8005\u548c\u5bb6\u5ead\u7ba1\u7406\u7684\u5f71\u54cd\u3002\u201d\u300a\u5206\u5b50\u9057\u4f20\u5b66\u4e0e\u4ee3\u8c22\u300b\u7b2c86\u5377\uff0c1-2\u671f\uff082005\uff09\uff1a220-32\u3002doi:10.1016\/j.ymgme.2005.07.007<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><sup>3<\/sup>Chikh, Karim \u7b49\u3002\u201c\u5c3c\u66fc-\u5339\u514bC\u578b\u75c5\uff1a\u5177\u6709\u81ea\u7136\u53d1\u751f\u7684\u9519\u4e49\u7a81\u53d8\u7684NPC2\u86cb\u767d\u7684\u4e9a\u7ec6\u80de\u5b9a\u4f4d\u548c\u529f\u80fd\u8868\u5f81\u3002\u201d\u300a\u4eba\u7c7b\u7a81\u53d8\u300b\u7b2c26\u5377\uff0c\u7b2c1\u671f\uff082005\u5e74\uff09\uff1a20-8\u3002doi:10.1002\/humu.20173<\/p>\n\n<\/div>\r\n          \r\n                                <\/div>\r\n            <\/div>            \r\n        <\/div>\r\n    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