{"id":63,"date":"2025-04-21T06:44:16","date_gmt":"2025-04-21T06:44:16","guid":{"rendered":"https:\/\/hifoder.org\/?page_id=63"},"modified":"2025-04-22T19:37:16","modified_gmt":"2025-04-22T19:37:16","slug":"hastalik-hakkinda","status":"publish","type":"page","link":"https:\/\/hifoder.org\/en\/hastalik-hakkinda\/","title":{"rendered":"About the Disease"},"content":{"rendered":"<div data-elementor-type=\"wp-page\" data-elementor-id=\"63\" class=\"elementor elementor-63\" data-elementor-post-type=\"page\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-a7379f5 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"a7379f5\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-d5d153b\" data-id=\"d5d153b\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-1790fb8 elementor-reverse-mobile elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"1790fb8\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-cd21b2d\" data-id=\"cd21b2d\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-55687d1 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"55687d1\" data-element_type=\"section\" data-e-type=\"section\" data-settings=\"{&quot;sticky&quot;:&quot;top&quot;,&quot;sticky_parent&quot;:&quot;yes&quot;,&quot;sticky_offset&quot;:120,&quot;sticky_on&quot;:[&quot;desktop&quot;,&quot;tablet&quot;,&quot;mobile&quot;],&quot;sticky_effects_offset&quot;:0,&quot;sticky_anchor_link_offset&quot;:0}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-01e1833\" data-id=\"01e1833\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-aadd27f elementor-nav-menu__align-start elementor-nav-menu--dropdown-none elementor-widget elementor-widget-nav-menu\" data-id=\"aadd27f\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;layout&quot;:&quot;vertical&quot;,&quot;submenu_icon&quot;:{&quot;value&quot;:&quot;&lt;svg class=\\&quot;e-font-icon-svg e-fas-caret-down\\&quot; viewBox=\\&quot;0 0 320 512\\&quot; xmlns=\\&quot;http:\\\/\\\/www.w3.org\\\/2000\\\/svg\\&quot;&gt;&lt;path d=\\&quot;M31.3 192h257.3c17.8 0 26.7 21.5 14.1 34.1L174.1 354.8c-7.8 7.8-20.5 7.8-28.3 0L17.2 226.1C4.6 213.5 13.5 192 31.3 192z\\&quot;&gt;&lt;\\\/path&gt;&lt;\\\/svg&gt;&quot;,&quot;library&quot;:&quot;fa-solid&quot;}}\" data-widget_type=\"nav-menu.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t<nav aria-label=\"Menu\" class=\"elementor-nav-menu--main elementor-nav-menu__container elementor-nav-menu--layout-vertical e--pointer-background e--animation-fade\">\n\t\t\t\t<ul id=\"menu-1-aadd27f\" class=\"elementor-nav-menu sm-vertical\"><li class=\"menu-item menu-item-type-taxonomy menu-item-object-category menu-item-1220\"><a href=\"https:\/\/hifoder.org\/en\/kategori\/hipofosfatazya\/\" class=\"elementor-item\">Hypophosphatasia<\/a><\/li>\n<li class=\"menu-item menu-item-type-taxonomy menu-item-object-category menu-item-1221\"><a href=\"https:\/\/hifoder.org\/en\/kategori\/sma\/\" class=\"elementor-item\">SMA<\/a><\/li>\n<li class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-1222\"><a href=\"https:\/\/hifoder.org\/en\/hastalik-hakkinda\/akademik-calismalar\/\" class=\"elementor-item\">Academic Studies<\/a><\/li>\n<li class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-1308\"><a href=\"https:\/\/hifoder.org\/en\/faaliyet-raporlari\/\" class=\"elementor-item\">Activity Reports<\/a><\/li>\n<\/ul>\t\t\t<\/nav>\n\t\t\t\t\t\t<nav class=\"elementor-nav-menu--dropdown elementor-nav-menu__container\" aria-hidden=\"true\">\n\t\t\t\t<ul id=\"menu-2-aadd27f\" class=\"elementor-nav-menu sm-vertical\"><li class=\"menu-item menu-item-type-taxonomy menu-item-object-category menu-item-1220\"><a href=\"https:\/\/hifoder.org\/en\/kategori\/hipofosfatazya\/\" class=\"elementor-item\" tabindex=\"-1\">Hypophosphatasia<\/a><\/li>\n<li class=\"menu-item menu-item-type-taxonomy menu-item-object-category menu-item-1221\"><a href=\"https:\/\/hifoder.org\/en\/kategori\/sma\/\" class=\"elementor-item\" tabindex=\"-1\">SMA<\/a><\/li>\n<li class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-1222\"><a href=\"https:\/\/hifoder.org\/en\/hastalik-hakkinda\/akademik-calismalar\/\" class=\"elementor-item\" tabindex=\"-1\">Academic Studies<\/a><\/li>\n<li class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-1308\"><a href=\"https:\/\/hifoder.org\/en\/faaliyet-raporlari\/\" class=\"elementor-item\" tabindex=\"-1\">Activity Reports<\/a><\/li>\n<\/ul>\t\t\t<\/nav>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-a034781\" data-id=\"a034781\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-6f6d02c elementor-widget elementor-widget-text-editor\" data-id=\"6f6d02c\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Hipofosfatazya (HPP), serum ve kemik alkalen fosfataz (TNSALP) enzimini kodlayan gendeki fonksiyon kayb\u0131 mutasyonlar\u0131n\u0131n yol a\u00e7t\u0131\u011f\u0131 alkalen fosfataz (ALP) enzim eksikli\u011fi ile karakterize edilen, kemik ve di\u015f mineralizasyon bozuklu\u011fu ile belirgin olan nadir kal\u0131t\u0131msal metabolik bir hastal\u0131kt\u0131r. \u0130lk kez Rathbun taraf\u0131ndan 1948\u2019de tan\u0131mlanm\u0131\u015ft\u0131r. Hastal\u0131\u011f\u0131n ciddi tiplerinin s\u0131kl\u0131\u011f\u0131 1\/100 000\u2019dir.<\/p><p>\u00c7ocukluk \u00e7a\u011f\u0131 ba\u015flang\u0131\u00e7l\u0131 HPP\u2019nin en karakteristik bulgular\u0131 kemik ve di\u015flerde yetersiz mineralizasyon, s\u00fct di\u015flerinin erken kayb\u0131, rikets, k\u0131r\u0131klar, kemik deformiteleri, solunum yetersizli\u011fi, b\u00fcy\u00fcme ve geli\u015fme gerili\u011fi, hipotoni, hiperkalsemi, nefrokalsinoz ve kraniosinostozdur. TNSALP aktivitesi azald\u0131\u011f\u0131nda PP\u0130, Pi&#8217;ye d\u00f6n\u00fc\u015femedi\u011finden serum PP\u0130 d\u00fczeyleri artmakta ve artan PP\u0130 d\u00fczeyleri kemik ve di\u015f geli\u015fimini engellemektedir.<\/p><p>Tan\u0131 i\u00e7in en \u00f6nemli nokta hastal\u0131\u011f\u0131n akla getirilmesidir. Kemik, di\u015f ve di\u011fer sistemik belirti ve bulgularla ba\u015fvuran hastalar\u0131n ay\u0131r\u0131c\u0131 tan\u0131s\u0131nda HPP akla getirildi\u011finde d\u00fc\u015f\u00fck ALP d\u00fczeyleriyle kolayl\u0131kla tan\u0131 konabilir. Yak\u0131n zamana kadar tedavi edilemeyen nadir hastal\u0131klar grubunda yer alan HPP i\u00e7in kemik d\u00fczeyinde ALP replasman\u0131 gereklili\u011fi anla\u015f\u0131lm\u0131\u015f ve kemi\u011fe y\u00f6nlendirilmi\u015f rekombinant insan TNSALP&#8217;si (asfotase alfa) geli\u015ftirilmi\u015ftir. Ge\u00e7ti\u011fimiz y\u0131llarda Avrupa ve Amerika&#8217;da onay alan asfotase alfan\u0131n T\u00fcrkiye&#8217;deki ruhsatland\u0131rma i\u015flemleri devam etmektedir.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>Hipofosfatazya (HPP), serum ve kemik alkalen fosfataz (TNSALP) enzimini kodlayan gendeki fonksiyon kayb\u0131 mutasyonlar\u0131n\u0131n yol a\u00e7t\u0131\u011f\u0131 alkalen fosfataz (ALP) enzim eksikli\u011fi ile karakterize edilen, kemik ve di\u015f mineralizasyon bozuklu\u011fu ile belirgin olan nadir kal\u0131t\u0131msal metabolik bir hastal\u0131kt\u0131r. \u0130lk kez Rathbun taraf\u0131ndan 1948\u2019de tan\u0131mlanm\u0131\u015ft\u0131r. Hastal\u0131\u011f\u0131n ciddi tiplerinin s\u0131kl\u0131\u011f\u0131 1\/100 000\u2019dir. \u00c7ocukluk \u00e7a\u011f\u0131 ba\u015flang\u0131\u00e7l\u0131 HPP\u2019nin en karakteristik [&hellip;]<\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"elementor_header_footer","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-63","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.3.1 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Hastal\u0131k Hakk\u0131nda - Hifo-DER<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/hifoder.org\/en\/hastalik-hakkinda\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Hastal\u0131k Hakk\u0131nda - Hifo-DER\" \/>\n<meta property=\"og:description\" content=\"Hipofosfatazya (HPP), serum ve kemik alkalen fosfataz (TNSALP) enzimini kodlayan gendeki fonksiyon kayb\u0131 mutasyonlar\u0131n\u0131n yol a\u00e7t\u0131\u011f\u0131 alkalen fosfataz (ALP) enzim eksikli\u011fi ile karakterize edilen, kemik ve di\u015f mineralizasyon bozuklu\u011fu ile belirgin olan nadir kal\u0131t\u0131msal metabolik bir hastal\u0131kt\u0131r. \u0130lk kez Rathbun taraf\u0131ndan 1948\u2019de tan\u0131mlanm\u0131\u015ft\u0131r. Hastal\u0131\u011f\u0131n ciddi tiplerinin s\u0131kl\u0131\u011f\u0131 1\/100 000\u2019dir. \u00c7ocukluk \u00e7a\u011f\u0131 ba\u015flang\u0131\u00e7l\u0131 HPP\u2019nin en karakteristik [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/hifoder.org\/en\/hastalik-hakkinda\/\" \/>\n<meta property=\"og:site_name\" content=\"Hifo-DER\" \/>\n<meta property=\"article:modified_time\" content=\"2025-04-22T19:37:16+00:00\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data1\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\/\/hifoder.org\/hastalik-hakkinda\/\",\"url\":\"https:\/\/hifoder.org\/hastalik-hakkinda\/\",\"name\":\"Hastal\u0131k Hakk\u0131nda - Hifo-DER\",\"isPartOf\":{\"@id\":\"https:\/\/hifoder.org\/#website\"},\"datePublished\":\"2025-04-21T06:44:16+00:00\",\"dateModified\":\"2025-04-22T19:37:16+00:00\",\"breadcrumb\":{\"@id\":\"https:\/\/hifoder.org\/hastalik-hakkinda\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/hifoder.org\/hastalik-hakkinda\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\/\/hifoder.org\/hastalik-hakkinda\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Anasayfa\",\"item\":\"https:\/\/hifoder.org\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Hastal\u0131k Hakk\u0131nda\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\/\/hifoder.org\/#website\",\"url\":\"https:\/\/hifoder.org\/\",\"name\":\"Hifo-DER\",\"description\":\"\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\/\/hifoder.org\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Hastal\u0131k Hakk\u0131nda - Hifo-DER","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/hifoder.org\/en\/hastalik-hakkinda\/","og_locale":"en_US","og_type":"article","og_title":"Hastal\u0131k Hakk\u0131nda - Hifo-DER","og_description":"Hipofosfatazya (HPP), serum ve kemik alkalen fosfataz (TNSALP) enzimini kodlayan gendeki fonksiyon kayb\u0131 mutasyonlar\u0131n\u0131n yol a\u00e7t\u0131\u011f\u0131 alkalen fosfataz (ALP) enzim eksikli\u011fi ile karakterize edilen, kemik ve di\u015f mineralizasyon bozuklu\u011fu ile belirgin olan nadir kal\u0131t\u0131msal metabolik bir hastal\u0131kt\u0131r. \u0130lk kez Rathbun taraf\u0131ndan 1948\u2019de tan\u0131mlanm\u0131\u015ft\u0131r. 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