{"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":"palheta-niemann-tipo-c","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/pt\/resources\/key-diseases\/niemann-pick-type-c\/","title":{"rendered":"Niemann-Pick Tipo 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>Niemann-Pick Tipo C<\/h1>\r\n          <h2 class=\"bl-texto\">A doen\u00e7a de Niemann-Pick tipo C (NPC) \u00e9 uma doen\u00e7a de progress\u00e3o lenta, cuja principal caracter\u00edstica \u00e9 o ac\u00famulo de lip\u00eddios nos lisossomos. <\/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\/pt\/\">Home<\/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\">O que \u00e9 a doen\u00e7a de Niemann-Pick tipo C?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">A doen\u00e7a de Niemann-Pick tipo C (NPC) \u00e9 uma doen\u00e7a de progress\u00e3o lenta, cuja principal caracter\u00edstica \u00e9 o ac\u00famulo de lip\u00eddios nos lisossomos. Os sintomas variam de acordo com a idade. Os sinais cl\u00ednicos durante a inf\u00e2ncia se limitam \u00e0s v\u00edsceras, com hepatoesplenomegalia, icter\u00edcia e (em alguns casos) infiltrados pulmonares. Ap\u00f3s o final da inf\u00e2ncia, os sintomas neurol\u00f3gicos come\u00e7am a se manifestar. A apresenta\u00e7\u00e3o cl\u00e1ssica ocorre no meio ou no final da inf\u00e2ncia, com o in\u00edcio de ataxia, paralisia supranuclear do olhar vertical e dem\u00eancia. Distonia e convuls\u00f5es s\u00e3o caracter\u00edsticas comuns. Adultos geralmente apresentam dem\u00eancia ou sintomas psiqui\u00e1tricos.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">A NPC \u00e9 herdada de forma autoss\u00f4mica recessiva. \u00c9 causada por muta\u00e7\u00f5es nos genes NPC1 (em 951 casos) ou NPC2 (em 51 casos).&nbsp;<\/h3>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">A maioria dos casos de NPC1 envolve heterozigotos compostos de variantes de nucleot\u00eddeo \u00fanico. <sup>&lt;sup&gt;12<\/sup> &lt;\/sup&gt; At\u00e9 o momento, mais de 511 variantes foram descritas no gene NPC1 que causam a doen\u00e7a de Niemann-Pick tipo C, e mais de 27 variantes diferentes no gene NPC2.&lt;sup&gt; <sup>3<\/sup> &lt;\/sup&gt;<\/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\">Sintomas<\/h5>\n\n\n\n<ul class=\"wp-block-list\">\n<li>F\u00edgado e ba\u00e7o aumentados (hepatoesplenomegalia)<\/li>\n\n\n\n<li>Dificuldade em coordenar os movimentos (<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>Movimentos oculares anormais (paralisia supranuclear do olhar vertical)<\/li>\n\n\n\n<li>T\u00f4nus muscular fraco (<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>Doen\u00e7a hep\u00e1tica grave<\/li>\n\n\n\n<li>Infec\u00e7\u00f5es respirat\u00f3rias frequentes<\/li>\n\n\n\n<li>Dificuldade de fala<\/li>\n\n\n\n<li>Dificuldade para engolir e se alimentar<\/li>\n\n\n\n<li>Perda de habilidades cognitivas<\/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-709 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 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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\">Pacientes<\/p>                            <h3 class=\"bl-titulo\">Aconselhamento Gen\u00e9tico<\/h3>\n                            <p>A CENTOGENE s\u00f3 realiza testes gen\u00e9ticos solicitados por um m\u00e9dico. Os resultados dos testes gen\u00e9ticos podem ter um impacto profundo na sua vida. Recomendamos fortemente que voc\u00ea procure aconselhamento gen\u00e9tico. Os profissionais de aconselhamento podem orientar voc\u00ea e sua fam\u00edlia sobre a conveni\u00eancia de realizar um teste gen\u00e9tico. Eles tamb\u00e9m podem ajud\u00e1-lo a compreender os resultados do seu teste gen\u00e9tico e suas implica\u00e7\u00f5es.<\/p>\n<p>O formul\u00e1rio de perguntas e respostas a seguir pode auxiliar nas discuss\u00f5es com seu m\u00e9dico sobre testes gen\u00e9ticos:<\/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 que perguntar ao seu m\u00e9dico<\/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-709\"><\/div>\n          <div class=\"swiper-button-next next-709\"><\/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-709\", {\n      slidesPerView: 1,\n      spaceBetween: 10, \n      navigation: {\n        nextEl: \".next-709\",\n        prevEl: \".pre-709\",\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        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doi:10.1002\/humu.10255<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><sup>2<\/sup>Millat, Gilles et al. \u201cDoen\u00e7a de Niemann-Pick tipo C: uso de cromatografia l\u00edquida de alta efici\u00eancia desnaturante para a detec\u00e7\u00e3o de varia\u00e7\u00f5es gen\u00e9ticas em NPC1 e NPC2 e impacto no manejo de pacientes e familiares.\u201d Gen\u00e9tica molecular e metabolismo, 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. \u201cDoen\u00e7a de Niemann-Pick tipo C: localiza\u00e7\u00e3o subcelular e caracteriza\u00e7\u00e3o funcional das prote\u00ednas NPC2 com muta\u00e7\u00f5es missense de ocorr\u00eancia natural.\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 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