{"id":6196,"date":"2026-02-16T12:50:00","date_gmt":"2026-02-16T10:50:00","guid":{"rendered":"https:\/\/rijetke-bolesti.com\/?p=6196"},"modified":"2026-03-14T21:34:38","modified_gmt":"2026-03-14T19:34:38","slug":"fabryjeva-bolest","status":"publish","type":"post","link":"https:\/\/rijetke-bolesti.com\/en\/fabryjeva-bolest\/","title":{"rendered":"Fabryjeva\u00a0bolest \u00a0"},"content":{"rendered":"<p>Fabryjeva\u00a0bolest (poznata i kao Anderson\u2013Fabryjeva\u00a0bolest) rijetka je nasljedna metaboli\u010dka bolest koja pripada skupini\u00a0lizosomskih\u00a0bolesti nakupljanja.\u00a0\u00a0<\/p>\n\n\n\n<p><strong>Uzrok i naslje\u0111ivanje<\/strong>&nbsp;<\/p>\n\n\n\n<p>Fabryjeva&nbsp;bolest nastaje zbog mutacije u genu GLA, koji sadr\u017ei upute za proizvodnju enzima \u03b1-galaktozidaze&nbsp;A. Kada taj enzim ne djeluje pravilno, dolazi do postupnog nakupljanja odre\u0111enih lipida u stanicama i tkivima organizma.&nbsp;<\/p>\n\n\n\n<p>Kako je bolest X-vezano nasljedna, obrazac naslje\u0111ivanja je specifi\u010dan:&nbsp;<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>mu\u0161karac s bole\u0161\u0107u prenosi mutaciju svim k\u0107erima, ali ne i sinovima\u00a0<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u017eena nositeljica ima 50 % vjerojatnosti prenijeti mutaciju na dijete\u00a0<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u017eene tako\u0111er mogu razviti simptome zbog varijabilne ekspresije gena.\u00a0<\/li>\n<\/ul>\n\n\n\n<p><strong>U\u010destalost bolesti<\/strong>&nbsp;<\/p>\n\n\n\n<p>Fabryjeva&nbsp;bolest smatra se rijetkom. Procjenjuje se da se klasi\u010dni oblik bolesti javlja u pribli\u017eno 1 na 40.000\u201360.000 mu\u0161karaca, iako novija istra\u017eivanja ukazuju da bla\u017ei oblici mogu biti \u010de\u0161\u0107i nego \u0161to se ranije mislilo.&nbsp;<\/p>\n\n\n\n<p>Novoro\u0111ena\u010dki&nbsp;probir u nekim zemljama pokazuje da bi odre\u0111ene varijante bolesti mogle biti prisutne u \u010dak 1 na nekoliko tisu\u0107a novoro\u0111en\u010dadi, posebno u kasnijim, bla\u017eim oblicima bolesti.&nbsp;<\/p>\n\n\n\n<p><strong>Simptomi<\/strong>&nbsp;<\/p>\n\n\n\n<p>Simptomi se \u010desto javljaju ve\u0107 u djetinjstvu ili adolescenciji, osobito kod klasi\u010dnog oblika bolesti. Naj\u010de\u0161\u0107i znakovi i simptomi uklju\u010duju:&nbsp;<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>peckaju\u0107u ili \u017eare\u0107u bol u \u0161akama i stopalima (akroparestezije)\u00a0<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>smanjeno ili odsutno znojenje (hipohidroza)\u00a0<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>male crvenkaste ko\u017ene promjene (angiokeratomi)\u00a0<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>probavne tegobe i bolove u trbuhu\u00a0<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>kroni\u010dni umor\u00a0<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>promjene na ro\u017enici oka (cornea\u00a0verticillata)\u00a0<\/li>\n<\/ul>\n\n\n\n<p>S napredovanjem bolesti mo\u017ee do\u0107i do ozbiljnijih komplikacija, uklju\u010duju\u0107i&nbsp;o\u0161te\u0107enje bubrega i kroni\u010dno zatajenje bubrega,&nbsp;kardiomiopatiju i sr\u010dane aritmije,&nbsp;mo\u017edani udar ili druge cerebrovaskularne komplikacije.&nbsp;<\/p>\n\n\n\n<p><strong>Dijagnostika<\/strong>&nbsp;<\/p>\n\n\n\n<p>Dijagnoza&nbsp;Fabryjeve&nbsp;bolesti temelji se na kombinaciji:&nbsp;<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>mjerenja aktivnosti enzima \u03b1-galaktozidaze\u00a0A u krvi ili leukocitima\u00a0<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>genetskog testiranja radi potvrde mutacije u genu GLA\u00a0<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>procjene zahva\u0107enosti organa (bubrezi, srce, \u017eiv\u010dani sustav)<\/li>\n<\/ul>\n\n\n\n<p>Rana dijagnoza je iznimno va\u017ena jer omogu\u0107uje pravovremeno zapo\u010dinjanje lije\u010denja i usporavanje napredovanja bolesti.&nbsp;<\/p>\n\n\n\n<p><strong>Lije\u010denje<\/strong>&nbsp;<\/p>\n\n\n\n<p>Fabryjeva&nbsp;bolest trenuta\u010dno nema potpuno izlje\u010denje, ali postoje terapije koje mogu zna\u010dajno usporiti njezino napredovanje i smanjiti simptome.&nbsp;Naj\u010de\u0161\u0107e terapijske opcije uklju\u010duju&nbsp;enzimsku nadomjesnu terapiju (ERT) \u2013 intravenska primjena&nbsp;rekombinantnog&nbsp;enzima svaka dva tjedna,&nbsp;farmakolo\u0161ku&nbsp;chaperone&nbsp;terapiju kod odre\u0111enih genetskih varijanti,&nbsp;simptomatsko lije\u010denje (kontrola boli, lije\u010denje bubre\u017enih i sr\u010danih komplikacija).&nbsp;<\/p>\n\n\n\n<p>Rano zapo\u010deta terapija mo\u017ee usporiti o\u0161te\u0107enje organa i pobolj\u0161ati kvalitetu \u017eivota pacijenata.&nbsp;<\/p>\n\n\n\n<p><strong>Va\u017enost ranog prepoznavanja<\/strong>&nbsp;<\/p>\n\n\n\n<p>Zbog nespecifi\u010dnih simptoma&nbsp;Fabryjeva&nbsp;bolest \u010desto ostaje nedijagnosticirana dugi niz godina. U nekim slu\u010dajevima pro\u0111e i vi\u0161e od desetlje\u0107a od pojave prvih simptoma do postavljanja dijagnoze.&nbsp;<\/p>\n\n\n\n<p>Stoga je va\u017eno podizati svijest me\u0111u zdravstvenim djelatnicima i poticati pravodobno upu\u0107ivanje na genetsko testiranje i specijalisti\u010dku obradu kod sumnje na ovu bolest.&nbsp;<\/p>\n\n\n\n<p>Izvori&nbsp;<\/p>\n\n\n\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/sites\/books\/NBK1292\">https:\/\/www.ncbi.nlm.nih.gov\/sites\/books\/NBK1292<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/28613767\">https:\/\/pubmed.ncbi.nlm.nih.gov\/28613767<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/my.clevelandclinic.org\/health\/diseases\/16235-fabry-disease\">https:\/\/my.clevelandclinic.org\/health\/diseases\/16235-fabry-disease<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/www.fabrydisease.org\/index.php\/about-fabry-disease\/what-is-fabry-disease\">https:\/\/www.fabrydisease.org\/index.php\/about-fabry-disease\/what-is-fabry-disease<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/324\">https:\/\/www.orpha.net\/en\/disease\/detail\/324<\/a><\/p>\n\n\n\n<p><\/p>","protected":false},"excerpt":{"rendered":"<p>Fabryjeva\u00a0bolest (poznata i kao Anderson\u2013Fabryjeva\u00a0bolest) rijetka je nasljedna metaboli\u010dka bolest koja pripada skupini\u00a0lizosomskih\u00a0bolesti nakupljanja.\u00a0\u00a0 Uzrok i naslje\u0111ivanje&nbsp; Fabryjeva&nbsp;bolest nastaje zbog mutacije u genu GLA, koji sadr\u017ei upute za proizvodnju enzima \u03b1-galaktozidaze&nbsp;A. Kada taj enzim ne djeluje pravilno, dolazi do postupnog nakupljanja odre\u0111enih lipida u stanicama&#8230;<\/p>","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"content-type":"","footnotes":""},"categories":[34],"tags":[],"class_list":["post-6196","post","type-post","status-publish","format-standard","hentry","category-rijetka-infoteka"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Fabryjeva\u00a0bolest \u00a0 - 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\/fabryjeva-bolest\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Fabryjeva\u00a0bolest \u00a0 - Hrvatski savez za rijetke bolesti\" \/>\n<meta property=\"og:description\" content=\"Fabryjeva\u00a0bolest (poznata i kao Anderson\u2013Fabryjeva\u00a0bolest) rijetka je nasljedna metaboli\u010dka bolest koja pripada skupini\u00a0lizosomskih\u00a0bolesti nakupljanja.\u00a0\u00a0 Uzrok i naslje\u0111ivanje&nbsp; Fabryjeva&nbsp;bolest nastaje zbog mutacije u genu GLA, koji sadr\u017ei upute za proizvodnju enzima \u03b1-galaktozidaze&nbsp;A. 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