{"id":300,"date":"2020-01-14T15:29:00","date_gmt":"2020-01-14T12:29:00","guid":{"rendered":"http:\/\/hifoder.org\/?p=39"},"modified":"2020-01-14T15:29:00","modified_gmt":"2020-01-14T12:29:00","slug":"hipofosfatazya-nedir","status":"publish","type":"post","link":"https:\/\/hifoder.org\/en\/hipofosfatazya-nedir\/","title":{"rendered":"What is Hypophosphatasia?"},"content":{"rendered":"<p> Hipofosfatazya (HPP), doku non-spesifik alkalen fosfataz (TNSALP) enzimini kodlayan gendeki (1p36.1-34) fonksiyon kayb\u0131 mutasyonlar\u0131n\u0131n yol a\u00e7t\u0131\u011f\u0131 alkalen fosfataz (ALP) enzim eksikli\u011fiyle karakterize nadir bir kal\u0131tsal metabolik hastal\u0131kt\u0131r. \u00c7ocukluk \u00e7a\u011f\u0131 ba\u015flang\u0131\u00e7l\u0131 HPP?nin 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. 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\u0131l Avrupa ve Amerika&#8217;da onay alan asfotase alfan\u0131n T\u00fcrkiye&#8217;deki ruhsatland\u0131rma i\u015flemleri devam etmektedir. <\/p>","protected":false},"excerpt":{"rendered":"<p>Hipofosfatazya (HPP), doku non-spesifik alkalen fosfataz (TNSALP) enzimini kodlayan gendeki (1p36.1-34) fonksiyon kayb\u0131 mutasyonlar\u0131n\u0131n yol a\u00e7t\u0131\u011f\u0131 alkalen fosfataz (ALP) enzim eksikli\u011fiyle karakterize nadir bir kal\u0131tsal metabolik hastal\u0131kt\u0131r. \u00c7ocukluk \u00e7a\u011f\u0131 ba\u015flang\u0131\u00e7l\u0131 HPP?nin 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, [&hellip;]<\/p>","protected":false},"author":1,"featured_media":953,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[9],"tags":[],"class_list":["post-300","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-slayt"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.3.1 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Hipofosfatazya Nedir? 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