{"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":"niemann-pick-typ-c","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/pl\/resources\/key-diseases\/niemann-pick-type-c\/","title":{"rendered":"Niemann-Pick Typ 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-diagnostyka-priorytet-choroba-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>Niemann-Pick Typ C<\/h1>\r\n          <h2 class=\"bl-texto\">Choroba Niemanna-Picka typu C (NPC) to powoli post\u0119puj\u0105ce schorzenie, kt\u00f3rego g\u0142\u00f3wn\u0105 cech\u0105 charakterystyczn\u0105 jest gromadzenie si\u0119 lipid\u00f3w w lizosomach. <\/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 Niemanna-Picka typu C?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Choroba Niemanna-Picka typu C (NPC) to wolno post\u0119puj\u0105ce schorzenie, kt\u00f3rego g\u0142\u00f3wn\u0105 cech\u0105 charakterystyczn\u0105 jest gromadzenie si\u0119 lipid\u00f3w w lizosomach. Objawy zale\u017c\u0105 od wieku. Objawy kliniczne w okresie niemowl\u0119cym ograniczaj\u0105 si\u0119 do narz\u0105d\u00f3w wewn\u0119trznych, obejmuj\u0105c hepatosplenomegali\u0119, \u017c\u00f3\u0142taczk\u0119 oraz (w niekt\u00f3rych przypadkach) nacieki p\u0142ucne. Po okresie p\u00f3\u017anego niemowl\u0119ctwa zaczynaj\u0105 pojawia\u0107 si\u0119 objawy neurologiczne. Klasyczny obraz kliniczny wyst\u0119puje w \u015brodkowym lub p\u00f3\u017anym dzieci\u0144stwie z pocz\u0105tkiem ataksji, pionowego nadj\u0105drowego pora\u017cenia wzrokowego i demencji. Cz\u0119stymi objawami s\u0105 dystonia i drgawki. U doros\u0142ych cz\u0119sto wyst\u0119puj\u0105 objawy demencji lub zaburze\u0144 psychicznych.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Choroba NPC dziedziczona jest w spos\u00f3b autosomalny recesywny. Jest spowodowana mutacjami w genach NPC1 (w przypadku 95%) lub NPC2 (w przypadku 5%).&nbsp;<\/h3>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">W wi\u0119kszo\u015bci przypadk\u00f3w NPC1 wyst\u0119puj\u0105 heterozygoty z\u0142o\u017cone wariant\u00f3w pojedynczego nukleotydu. <sup>12<\/sup> Do tej pory opisano ponad 511 wariant\u00f3w w genie NPC1 powoduj\u0105cych chorob\u0119 Niemanna-Picka typu C oraz ponad 27 r\u00f3\u017cnych wariant\u00f3w w genie NPC2. <sup>3<\/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\">Objawy<\/h5>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Powi\u0119kszenie w\u0105troby i \u015bledziony (hepatosplenomegalia)<\/li>\n\n\n\n<li>Trudno\u015bci z koordynacj\u0105 ruchu (<a href=\"http:\/\/www.childrenshospital.org\/conditions-and-treatments\/conditions\/m\/movement-disorders\/symptoms-and-causes\" target=\"_blank\" rel=\"noreferrer noopener\">ataksja<\/a>)<\/li>\n\n\n\n<li>Nieprawid\u0142owe ruchy ga\u0142ek ocznych (pionowe nadj\u0105drowe pora\u017cenie wzrokowe)<\/li>\n\n\n\n<li>S\u0142abe napi\u0119cie mi\u0119\u015bniowe (<a href=\"http:\/\/www.childrenshospital.org\/conditions-and-treatments\/conditions\/m\/muscle-weakness-hypotonia\" target=\"_blank\" rel=\"noreferrer noopener\">hipotonia<\/a>)<\/li>\n\n\n\n<li>Ci\u0119\u017cka choroba w\u0105troby<\/li>\n\n\n\n<li>Cz\u0119ste infekcje dr\u00f3g oddechowych<\/li>\n\n\n\n<li>Trudno\u015bci z m\u00f3wieniem<\/li>\n\n\n\n<li>Trudno\u015bci z po\u0142ykaniem i karmieniem<\/li>\n\n\n\n<li>Utrata zdolno\u015bci poznawczych<\/li>\n<\/ul>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    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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-394\"><\/div>\n          <div class=\"swiper-button-next next-394\"><\/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-394\", {\n      slidesPerView: 1,\n      spaceBetween: 10, \n      navigation: {\n        nextEl: \".next-394\",\n        prevEl: \".pre-394\",\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=\"wp-block-paragraph\"><sup>1<\/sup>Park, Walter D i in. \u201cIdentyfikacja 58 nowych mutacji w chorobie Niemanna-Picka typu C: korelacja z fenotypem biochemicznym i znaczeniem domen podobnych do PTC1 w genie NPC1\u201d. Human mutation vol. 22,4 (2003): 313\u201325. doi:10.1002\/humu.10255<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><sup>2<\/sup>Millat, Gilles i in. \u201cChoroba Niemanna-Picka typu C: zastosowanie denaturuj\u0105cej chromatografii cieczowej wysokosprawnej do wykrywania wariant\u00f3w genetycznych NPC1 i NPC2 oraz wp\u0142yw na leczenie pacjent\u00f3w i ich rodzin\u201d. Molecular Genetics and Metabolism, t. 86, s. 1\u20132 (2005): 220\u201332. doi:10.1016\/j.ymgme.2005.07.007<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><sup>3<\/sup>Chikh, Karim i in. \u201cChoroba Niemanna-Picka typu C: lokalizacja subkom\u00f3rkowa i charakterystyka funkcjonalna bia\u0142ek NPC2 z naturalnie wyst\u0119puj\u0105cymi mutacjami typu missense\u201d. Human mutation vol. 26,1 (2005): 20\u20138. 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 \">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 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