{"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%bc%e5%8c%b9%e5%85%8b%e6%b0%8f%e7%97%87-c-%e5%9e%8b","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/tw\/resources\/key-diseases\/niemann-pick-type-c\/","title":{"rendered":"\u5c3c\u66fc\u5339\u514b\u6c0f\u75c7 C \u578b <br>Niemann-Pick Type C"},"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\u514b\u6c0f\u75c7 C \u578b <br>Niemann-Pick Type C<\/h1>\r\n          <h2 class=\"bl-texto\">\u5c3c\u66fc\u5339\u514b\u75c7 C \u578b\uff08Niemann-Pick Disease Type C, NPC\uff09\u662f\u4e00\u7a2e\u9032\u5c55\u7de9\u6162\u7684\u75be\u75c5\uff0c\u5176\u4e3b\u8981\u75c5\u7406\u7279\u5fb5\u70ba\u8102\u8cea\u65bc\u6eb6\u9176\u9ad4\u5167\u7570\u5e38\u5806\u7a4d\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\u5c3c\u66fc\u5339\u514b\u6c0f\u75c7 C \u578b\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u5c3c\u66fc\u5339\u514b\u6c0f\u75c7 C \u578b\uff08NPC\uff09\u662f\u4e00\u7a2e\u9032\u5c55\u7de9\u6162\u7684\u6eb6\u9176\u9ad4\u5132\u7a4d\u75be\u75c5\uff0c\u5176\u4e3b\u8981\u75c5\u7406\u7279\u5fb5\u70ba\u8102\u8cea\u7121\u6cd5\u6b63\u5e38\u4ee3\u8b1d\uff0c\u5c0e\u81f4\u8102\u8cea\u6301\u7e8c\u5806\u7a4d\u65bc\u7d30\u80de\u5167\u7684\u6eb6\u9176\u9ad4\u3002\n\nNPC \u7684\u81e8\u5e8a\u75c7\u72c0\u6703\u96a8\u60a3\u8005\u5e74\u9f61\u800c\u6709\u6240\u4e0d\u540c\u3002\u65e9\u671f\u75c7\u72c0\u4e3b\u8981\u5f71\u97ff\u5167\u81df\u5668\u5b98\uff0c\u5305\u62ec\uff1a\n\n\u809d\u813e\u816b\u5927\uff08Hepatosplenomegaly\uff09\u3001\n\u9ec3\u75b8\uff08Jaundice\uff09\u3001\n\u90e8\u5206\u60a3\u8005\u53ef\u80fd\u51fa\u73fe\u80ba\u90e8\u6d78\u6f64\uff08Pulmonary Infiltrates\uff09\u3002\u96a8\u8457\u75be\u75c5\u9032\u5c55\uff0c\u795e\u7d93\u7cfb\u7d71\u75c7\u72c0\u9010\u6f38\u51fa\u73fe\u3002\n\n\u5178\u578b\u75c5\u4f8b\u901a\u5e38\u65bc\u5152\u7ae5\u4e2d\u665a\u671f\u767c\u75c5\uff0c\u5e38\u898b\u75c7\u72c0\u5305\u62ec\uff1a\n\n\u5171\u6fdf\u5931\u8abf\uff08Ataxia\uff09\u3001\n\u5782\u76f4\u6027\u6838\u4e0a\u6027\u51dd\u8996\u9ebb\u75fa\uff08Vertical Supranuclear Gaze Palsy\uff09\u3001\n\u5931\u667a\uff08Dementia\uff09\u3002\n\n\u6b64\u5916\uff0c\u4e5f\u5e38\u4f34\u96a8\uff1a\n\n\u808c\u5f35\u529b\u7570\u5e38\uff08Dystonia\uff09\u3001\n\u7672\u7647\u767c\u4f5c\uff08Seizures\uff09\u3002\u6210\u4eba\u60a3\u8005\u5247\u8f03\u5e38\u4ee5\uff1a\n\n\u5931\u667a\u75c7\u72c0\u3001\n\u7cbe\u795e\u6216\u7cbe\u795e\u79d1\u75c7\u72c0\uff0c\n\n\u4f5c\u70ba\u4e3b\u8981\u81e8\u5e8a\u8868\u73fe\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">NPC \u5c6c\u65bc\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\u75be\u75c5\uff08Autosomal Recessive Disorder\uff09\u3002\n\n\u4e3b\u8981\u7531\u4ee5\u4e0b\u57fa\u56e0\u7684\u81f4\u75c5\u6027\u8b8a\u7570\u6240\u9020\u6210\uff1a\n\nNPC1 \u57fa\u56e0\uff1a\u7d04\u5360 95% \u7684\u75c5\u4f8b\u3001\nNPC2 \u57fa\u56e0\uff1a\u7d04\u5360 5% \u7684\u75c5\u4f8b\u3002&nbsp;<\/h3>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">\u5927\u591a\u6578 NPC1 \u60a3\u8005\u5c6c\u65bc\u8907\u5408\u7570\u578b\u5408\u5b50\uff08Compound Heterozygotes\uff09\uff0c\u5373\u5169\u500b\u7b49\u4f4d\u57fa\u56e0\u5404\u5e36\u6709\u4e0d\u540c\u7684\u55ae\u6838\u82f7\u9178\u8b8a\u7570\uff08Single Nucleotide Variants\uff09 <sup>12<\/sup>\u00a0\u3002\u622a\u81f3\u76ee\u524d\u70ba\u6b62\uff0c\u5df2\u77e5\uff1a\n\nNPC1 \u5df2\u767c\u73fe\u8d85\u904e 511 \u7a2e\u81f4\u75c5\u6027\u8b8a\u7570\nNPC2 \u5df2\u767c\u73fe\u8d85\u904e 27 \u7a2e\u81f4\u75c5\u6027\u8b8a\u7570 <sup>3<\/sup>\u3002<\/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>\u809d\u813e\u816b\u5927\uff08Hepatosplenomegaly\uff09<\/li>\n\n\n\n<li>\u5171\u6fdf\u5931\u8abf\uff08<a href=\"http:\/\/www.childrenshospital.org\/conditions-and-treatments\/conditions\/m\/movement-disorders\/symptoms-and-causes\" target=\"_blank\" rel=\"noreferrer noopener\">ataxia<\/a>)<\/li>\n\n\n\n<li>\u5782\u76f4\u6027\u6838\u4e0a\u6027\u51dd\u8996\u9ebb\u75fa\uff08Vertical Supranuclear Gaze Palsy\uff09<\/li>\n\n\n\n<li>\u808c\u5f35\u529b\u4f4e\u4e0b\uff08<a href=\"http:\/\/www.childrenshospital.org\/conditions-and-treatments\/conditions\/m\/muscle-weakness-hypotonia\" target=\"_blank\" rel=\"noreferrer noopener\">hypotonia<\/a>)<\/li>\n\n\n\n<li>\u56b4\u91cd\u809d\u81df\u75be\u75c5<\/li>\n\n\n\n<li>\u53cd\u8986\u547c\u5438\u9053\u611f\u67d3<\/li>\n\n\n\n<li>\u8a9e\u8a00\u8868\u9054\u56f0\u96e3<\/li>\n\n\n\n<li>\u541e\u56a5\u53ca\u9032\u98df\u56f0\u96e3<\/li>\n\n\n\n<li>\u8a8d\u77e5\u529f\u80fd\u9000\u5316<\/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\/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-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 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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=\"wp-block-paragraph\"><sup>1<\/sup>Park, Walter D et al. \u201cIdentification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.\u201d Human mutation vol. 22,4 (2003): 313-25. doi:10.1002\/humu.10255<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><sup>2<\/sup>Millat, Gilles et al. \u201cNiemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.\u201d Molecular genetics and metabolism vol. 86,1-2 (2005): 220-32. doi:10.1016\/j.ymgme.2005.07.007<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><sup>3<\/sup>Chikh, Karim et al. \u201cNiemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.\u201d Human mutation vol. 26,1 (2005): 20-8. doi:10.1002\/humu.20173<\/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 \">\u5c08\u696d\u5f15\u5c0e\uff0c\u59cb\u7d42\u76f8\u4f34<p style=\"font-size: 1.2rem; margin-top: 1rem; margin-bottom: 1.5rem;\">\u6211\u5011\u7684\u5168\u7403\u5ba2\u6236\u670d\u52d9\u5718\u968a\u8207\u9818\u57df\u5c08\u5bb6\u5c07\u5168\u7a0b\u63d0\u4f9b\u652f\u63f4\uff0c\u5354\u52a9\u60a8\u5728\u6bcf\u4e00\u6b65\u505a\u51fa\u66f4\u6709\u4fe1\u5fc3\u7684\u6c7a\u7b56\u3002<\/p><a class=\"btn btn-primary\" style=\"margin: .5rem\" href=\"mailto:customer.support@centogene.com\">\u806f\u7d61\u6211\u5011<\/a><a class=\"btn btn-2\" style=\"margin: .5rem\" href=\"https:\/\/www.centogene.com\/tw\/%e9%97%9c%e6%96%bc%e6%88%91%e5%80%91\/%e8%81%af%e7%b5%a1%e6%88%91%e5%80%91\/\">\u5340\u57df\u652f\u63f4<\/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   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