{"id":5967,"date":"2026-02-12T11:17:49","date_gmt":"2026-02-12T09:17:49","guid":{"rendered":"https:\/\/rijetke-bolesti.com\/?p=5967"},"modified":"2026-03-11T14:05:10","modified_gmt":"2026-03-11T12:05:10","slug":"kava-s-rijetkima-fenilketonuria-pku","status":"publish","type":"post","link":"https:\/\/rijetke-bolesti.com\/en\/kava-s-rijetkima-fenilketonuria-pku\/","title":{"rendered":"Kava s rijetkima &#8211; Fenilketonuria (PKU)"},"content":{"rendered":"<p><strong>Definicija<\/strong><\/p>\n\n\n\n<p>Rijedak uro\u0111eni poreme\u0107aj metabolizma aminokiselina karakteriziran povi\u0161enom razinom fenilalanina u krvi te sni\u017eenom razinom ili potpunim nedostatkom enzima fenilalanin-hidroksilaze. Ako se ne otkrije rano ili se ne lije\u010di, poreme\u0107aj se o\u010dituje blagim do te\u0161kim intelektualnim o\u0161te\u0107enjem.<\/p>\n\n\n\n<p><strong>Epidemiologija<\/strong><\/p>\n\n\n\n<p>Prevalencija fenilketonurije (PKU) pokazuje znatne geografske razlike. U Europi se procjenjuje na oko 1\/10 000 \u017eivoro\u0111ene djece, uz ve\u0107u u\u010destalost u nekim zemljama (Irska, Italija). Posebno je visoka u Turskoj (1\/4 000 \u017eivoro\u0111ene djece). PKU je znatno rje\u0111a u finskoj, afri\u010dkoj i japanskoj populaciji.<\/p>\n\n\n\n<p><strong>Klini\u010dki opis<\/strong><\/p>\n\n\n\n<p>U nedostatku neonatalne dijagnoze simptomi se razvijaju unutar nekoliko mjeseci nakon ro\u0111enja te mogu varirati od vrlo blagih do te\u0161kih. Uklju\u010duju postupno ka\u0161njenje u razvoju, usporen rast, mikrocefaliju, napadaje, tremor, ekcem, povra\u0107anje i karakteristi\u010dan pljesniv (mo\u0161usni) miris.<\/p>\n\n\n\n<p>Nelije\u010deni bolesnici kasnije razvijaju intelektualno o\u0161te\u0107enje, poreme\u0107aje pona\u0161anja (hiperaktivnost) i motori\u010dke poreme\u0107aje. \u010cesto imaju svjetliju put i kosu zbog nedostatka tirozina. Naj\u010de\u0161\u0107i oblik bolesti je klasi\u010dna fenilketonurija, obilje\u017eena te\u0161kim simptomima. Opisan je i blagi oblik (blaga PKU) te jo\u0161 bla\u017ei oblik poznat kao blaga hiperfenilalaninemija (blaga HPA ili ne-PKU HPA).<\/p>\n\n\n\n<p>Podskupina bolesnika s bla\u017eim fenotipom pokazuje odgovor na tetrahidrobiopterin (BH4), kofaktor enzima fenilalanin-hidroksilaze (BH4-responzivna HPA).<\/p>\n\n\n\n<p><strong>Etiologija<\/strong><\/p>\n\n\n\n<p>PKU je uzrokovana \u0161irokim spektrom varijanti u genu PAH (12q22\u2013q24.2), koji kodira fenilalanin-hidroksilazu. Opisane su i ne-PAH varijante koje uzrokuju poreme\u0107aj poznat kao hiperfenilalaninemija zbog nedostatka BH4. U\u010destalost varijanti razlikuje se me\u0111u etni\u010dkim skupinama.<\/p>\n\n\n\n<p>Sni\u017eena razina ili potpuni nedostatak enzima fenilalanin-hidroksilaze dovodi do toksi\u010dnog nakupljanja fenilalanina u krvi i mozgu, \u0161to uzrokuje klini\u010dke manifestacije.<\/p>\n\n\n\n<p><strong>Dijagnosti\u010dke metode<\/strong><\/p>\n\n\n\n<p>Poreme\u0107aj se obi\u010dno dijagnosticira u sklopu programa novoro\u0111ena\u010dkog probira (<a href=\"https:\/\/www.kbc-zagreb.hr\/informacije-javnosti-o-novorodjenackom-probiru.aspx\">https:\/\/www.kbc-zagreb.hr\/informacije-javnosti-o-novorodjenackom-probiru.aspx<\/a>)<\/p>\n\n\n\n<p><strong>Diferencijalna dijagnoza<\/strong><\/p>\n\n\n\n<p>PKU treba razlikovati od nedostatka BH4.<\/p>\n\n\n\n<p><strong>Genetsko savjetovanje<\/strong><\/p>\n\n\n\n<p>Naslje\u0111ivanje je autosomno recesivno. Genetsko savjetovanje treba ponuditi rizi\u010dnim parovima (oba roditelja su nositelji patogene mutacije), uz informiranje o 25 % rizika za ro\u0111enje oboljelog djeteta u svakoj trudno\u0107i.<\/p>\n\n\n\n<p><strong>Lije\u010denje i zbrinjavanje<\/strong><\/p>\n\n\n\n<p>Osnova lije\u010denja je prehrana s niskim udjelom fenilalanina i primjena mje\u0161avina aminokiselina kod oblika koji zahtijevaju terapiju. Prema europskim smjernicama za lije\u010denje PKU, preporu\u010dena koncentracija fenilalanina u odr\u017eavanju obi\u010dno iznosi izme\u0111u 120 i 360 \u00b5mol\/L u novoro\u0111en\u010dadi, dok se kod starijih bolesnika lije\u010denje smatra nu\u017enim pri vrijednostima iznad 600 \u00b5mol\/L.<\/p>\n\n\n\n<p><strong>Prognoza<\/strong><\/p>\n\n\n\n<p>Prognoza je promjenjiva, ali povoljna ako se bolest rano dijagnosticira i pravilno lije\u010di.<\/p>\n\n\n\n<p>Izvor: Orphanet (2026.) <a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/716\">https:\/\/www.orpha.net\/en\/disease\/detail\/716<\/a><\/p>\n\n\n\n<div data-wp-interactive=\"core\/file\" class=\"wp-block-file\"><object data-wp-bind--hidden=\"!state.hasPdfPreview\" hidden class=\"wp-block-file__embed\" data=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Sephience.pdf\" type=\"application\/pdf\" style=\"width:100%;height:600px\" aria-label=\"Embed of Tekst je sastavila Studentska sekcija za rijetke bolesti Medicinskog fakulteta Sveu\u010dili\u0161ta u Zagrebu, s ciljem informiranja, edukacije i podizanja svijesti o temama vezanim uz rijetke bolesti..\"><\/object><a id=\"wp-block-file--media-f47aea23-3b84-4394-96b6-5283d2d9bd98\" href=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Sephience.pdf\">Tekst je sastavila Studentska sekcija za rijetke bolesti Medicinskog fakulteta Sveu\u010dili\u0161ta u Zagrebu, s ciljem informiranja, edukacije i podizanja svijesti o temama vezanim uz rijetke bolesti.<\/a><a href=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Sephience.pdf\" class=\"wp-block-file__button wp-element-button\" download aria-describedby=\"wp-block-file--media-f47aea23-3b84-4394-96b6-5283d2d9bd98\">Download<\/a><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"724\" height=\"1024\" src=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Vizual-Kava-s-rijetkima_final-724x1024.png\" alt=\"\" class=\"wp-image-5962\" style=\"aspect-ratio:0.7070329865741976;width:555px;height:auto\" srcset=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Vizual-Kava-s-rijetkima_final-724x1024.png 724w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Vizual-Kava-s-rijetkima_final-212x300.png 212w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Vizual-Kava-s-rijetkima_final-768x1086.png 768w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Vizual-Kava-s-rijetkima_final-1086x1536.png 1086w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Vizual-Kava-s-rijetkima_final-1448x2048.png 1448w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Vizual-Kava-s-rijetkima_final-8x12.png 8w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Vizual-Kava-s-rijetkima_final.png 1587w\" sizes=\"auto, (max-width: 724px) 100vw, 724px\" \/><\/figure>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Definicija Rijedak uro\u0111eni poreme\u0107aj metabolizma aminokiselina karakteriziran povi\u0161enom razinom fenilalanina u krvi te sni\u017eenom razinom ili potpunim nedostatkom enzima fenilalanin-hidroksilaze. Ako se ne otkrije rano ili se ne lije\u010di, poreme\u0107aj se o\u010dituje blagim do te\u0161kim intelektualnim o\u0161te\u0107enjem. Epidemiologija Prevalencija fenilketonurije (PKU) pokazuje znatne geografske razlike&#8230;.<\/p>","protected":false},"author":3,"featured_media":5966,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"content-type":"","footnotes":""},"categories":[1],"tags":[],"class_list":["post-5967","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Kava s rijetkima - Fenilketonuria (PKU) - Hrvatski savez za rijetke bolesti<\/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:\/\/rijetke-bolesti.com\/en\/kava-s-rijetkima-fenilketonuria-pku\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Kava s rijetkima - Fenilketonuria (PKU) - Hrvatski savez za rijetke bolesti\" \/>\n<meta property=\"og:description\" content=\"Definicija Rijedak uro\u0111eni poreme\u0107aj metabolizma aminokiselina karakteriziran povi\u0161enom razinom fenilalanina u krvi te sni\u017eenom razinom ili potpunim nedostatkom enzima fenilalanin-hidroksilaze. 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