{"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":"pua-niemann-tipo-c","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/es\/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\">La enfermedad de Niemann-Pick tipo C (NPC) es un trastorno de progresi\u00f3n lenta en el que la caracter\u00edstica principal es la acumulaci\u00f3n de l\u00edpidos en los lisosomas. <\/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\/es\/\">Inicio<\/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\">\u00bfQu\u00e9 es la enfermedad de Niemann-Pick tipo C?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">La enfermedad de Niemann-Pick tipo C (EPN) es un trastorno de progresi\u00f3n lenta cuya principal caracter\u00edstica es la acumulaci\u00f3n de l\u00edpidos en los lisosomas. Los s\u00edntomas dependen de la edad. Los signos cl\u00ednicos durante la infancia se limitan a las v\u00edsceras, con hepatoesplenomegalia, ictericia y, en algunos casos, infiltrados pulmonares. M\u00e1s all\u00e1 de la infancia tard\u00eda, comienzan a manifestarse s\u00edntomas neurol\u00f3gicos. La presentaci\u00f3n cl\u00e1sica se presenta a mediados o finales de la infancia, con la aparici\u00f3n de ataxia, par\u00e1lisis supranuclear vertical de la mirada y demencia. La diston\u00eda y las convulsiones son caracter\u00edsticas comunes. Es probable que los adultos presenten demencia o s\u00edntomas psiqui\u00e1tricos.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">El NPC se hereda de forma autos\u00f3mica recesiva. Est\u00e1 causado por mutaciones en los genes NPC1 (en el 95% de los casos) o NPC2 (en el 5% de los casos).&nbsp;<\/h3>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">La mayor\u00eda de los casos de NPC1 involucran heterocigotos compuestos de variantes de un solo nucle\u00f3tido. <sup>12<\/sup> Hasta ahora, se han descrito m\u00e1s de 511 variantes en NPC1 que causan la enfermedad de Niemann-Pick tipo C, y m\u00e1s de 27 variantes diferentes en 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\">S\u00edntomas<\/h5>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Agrandamiento del h\u00edgado y del bazo (hepatoesplenomegalia)<\/li>\n\n\n\n<li>Dificultad para coordinar el movimiento (<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>Movimientos oculares anormales (par\u00e1lisis de la mirada supranuclear vertical)<\/li>\n\n\n\n<li>Tono muscular deficiente (<a href=\"http:\/\/www.childrenshospital.org\/conditions-and-treatments\/conditions\/m\/muscle-weakness-hypotonia\" target=\"_blank\" rel=\"noreferrer noopener\">hipoton\u00eda<\/a>)<\/li>\n\n\n\n<li>Enfermedad hep\u00e1tica grave<\/li>\n\n\n\n<li>Infecciones respiratorias frecuentes<\/li>\n\n\n\n<li>Dificultad con el habla<\/li>\n\n\n\n<li>Dificultad para tragar y alimentarse<\/li>\n\n\n\n<li>P\u00e9rdida de habilidades cognitivas<\/li>\n<\/ul>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    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     <\/a>                        \n                        <div class=\"caja-text\">\n                            <p class=\"prefijo\">Pacientes<\/p>                            <h3 class=\"bl-titulo\">Asesoramiento gen\u00e9tico<\/h3>\n                            <p>CENTOGENE solo ofrece pruebas gen\u00e9ticas solicitadas por un m\u00e9dico. Los resultados de las pruebas gen\u00e9ticas pueden tener un profundo impacto en su vida. Le recomendamos encarecidamente que busque asesoramiento gen\u00e9tico. Los asesores pueden aconsejarle a usted y a su familia sobre si es conveniente hacerse una prueba gen\u00e9tica. Tambi\u00e9n pueden ayudarle a comprender los resultados de sus pruebas gen\u00e9ticas y sus implicaciones.<\/p>\n<p>El siguiente formulario de preguntas y respuestas puede respaldar las conversaciones con su m\u00e9dico sobre las pruebas gen\u00e9ticas:<\/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\">Qu\u00e9 preguntarle a su 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-802\"><\/div>\n          <div class=\"swiper-button-next next-802\"><\/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-802\", {\n      slidesPerView: 1,\n      spaceBetween: 10, \n      navigation: {\n        nextEl: \".next-802\",\n        prevEl: \".pre-802\",\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\">Notas al pie<\/h5>\n\n\n\n<p class=\"wp-block-paragraph\"><sup>1<\/sup>Park, Walter D et al. \u201cIdentificaci\u00f3n de 58 mutaciones nuevas en la enfermedad de Niemann-Pick tipo C: correlaci\u00f3n con el fenotipo bioqu\u00edmico e importancia de los dominios similares a PTC1 en 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. \u201cEnfermedad de Niemann-Pick C: uso de cromatograf\u00eda l\u00edquida de alta resoluci\u00f3n desnaturalizante para la detecci\u00f3n de variaciones gen\u00e9ticas de NPC1 y NPC2 e impacto en el manejo de pacientes y familias\u201d. Gen\u00e9tica molecular y 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. \u201cEnfermedad de Niemann-Pick tipo C: localizaci\u00f3n subcelular y caracterizaci\u00f3n funcional de las prote\u00ednas NPC2 con mutaciones sin sentido de origen 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 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 \">Estamos aqu\u00ed para ayudarte<p style=\"font-size: 1.2rem; margin-top: 1rem; margin-bottom: 1.5rem;\">Nuestro equipo de atenci\u00f3n al cliente y expertos que te guiar\u00e1n en cada paso del proceso.<\/p><a class=\"btn btn-primary\" style=\"margin: .5rem\" href=\"mailto:customer.support@centogene.com\">Env\u00edanos un mensaje<\/a><a class=\"btn btn-2\" style=\"margin: .5rem\" 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