{"id":1336,"date":"2025-01-10T11:14:10","date_gmt":"2025-01-10T11:14:10","guid":{"rendered":"https:\/\/respublikosinfo.lt\/?p=1336"},"modified":"2025-01-10T11:14:10","modified_gmt":"2025-01-10T11:14:10","slug":"reta-liga-simto-lietuviu-genuose-tik-kaip-ja-aptikti","status":"publish","type":"post","link":"https:\/\/respublikosinfo.lt\/?p=1336","title":{"rendered":"Reta liga \u2013 \u0161imto lietuvi\u0173 genuose, tik kaip j\u0105 aptikti?"},"content":{"rendered":"<p> <br \/>\n<\/p>\n<div>\n<p><strong>Fridricho ataksija \u2013 genetin\u0117 liga, b\u016bdinga europie\u010diams. Vakar\u0173 Europoje atlikti skai\u010diavimai ir tyrimai leid\u017eia daryti prielaid\u0105, kad \u0161iuo metu Lietuvoje yra apie \u0161imt\u0105 \u0161ia liga sergan\u010di\u0173 \u017emoni\u0173. <\/strong><\/p>\n<p>Ta\u010diau nei \u0161ie \u017emon\u0117s, nei j\u0173 artimieji apie lig\u0105 ne\u017eino. D\u0117l to prarandama galimyb\u0117 j\u0105 tinkamai suvaldyti.<\/p>\n<p>Fridricho ataksija kol kas yra nei\u0161gydoma, neuroraumenin\u0117 liga. Ji paveikia centrin\u0119 nerv\u0173 sistem\u0105, raumenis, \u0161ird\u012f. <\/p>\n<p>Lig\u0105 ir jos po\u017eymius pirmasis apra\u0161\u0117 vokie\u010di\u0173 gydytojas Nikolajus Fridreichas ma\u017edaug prie\u0161 150 met\u0173.\u00a0<\/p>\n<p>Pirmieji \u0161ios ligos po\u017eymiai yra pusiausvyros ir koordinacijos problemos. Ligai progresuojant, raumenys silpsta ir greitai apima nuovargis, gali atsirasti kalbos, reg\u0117jimo ir klausos problem\u0173, \u0161irdies veiklos sutrikim\u0173. <\/p>\n<p>Liga sukelia p\u0117d\u0173 ir stuburo deformacijas. Daliai pacient\u0173 i\u0161sivysto diabetas, \u0161irdies ligos. <\/p>\n<p>Ilgainiui (po 20\u201325 met\u0173 nuo pirm\u0173j\u0173 simptom\u0173) \u017emogus praranda geb\u0117jim\u0105 vaik\u0161\u010dioti, b\u016btina nuolatin\u0117 pagalba ir prie\u017ei\u016bra, o \u0161irdies ir kv\u0117pavimo problemos ima kelti pavoj\u0173 gyvybei. <\/p>\n<p>Sergant sunkia ligos forma, d\u0117l stipri\u0173 komplikacij\u0173 vidutin\u0117 tik\u0117tina gyvenimo trukm\u0117 siekia 35\u201340 met\u0173.<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_86 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Turinys:<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/respublikosinfo.lt\/?p=1336\/#Liga_%E2%80%93_europietisko_genofondo_paveldas\" >Liga \u2013 europieti\u0161ko genofondo paveldas<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/respublikosinfo.lt\/?p=1336\/#Seimos_gydytojui_tenka_itin_svarbi_uzduotis\" >\u0160eimos gydytojui tenka itin svarbi u\u017eduotis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/respublikosinfo.lt\/?p=1336\/#Fridricho_ataksija_turi_daug_veidu\" >Fridricho ataksija turi daug veid\u0173<\/a><\/li><\/ul><\/nav><\/div>\n<h2 id=\"liga-europieti\u0161ko-genofondo-paveldas\" class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Liga_%E2%80%93_europietisko_genofondo_paveldas\"><\/span>Liga \u2013 europieti\u0161ko genofondo paveldas<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Vilniaus universiteto ligonin\u0117s Santaros klinik\u0173 Ret\u0173j\u0173 lig\u0173 diagnostikos, gydymo ir steb\u0117senos koordinacinio centro koordinator\u0117 ir Vilniaus universiteto Neurologijos ir neurochirurgijos klinikos d\u0117stytoja dr. R\u016bta Kaladyt\u0117-Lokominien\u0117 atkreipia d\u0117mes\u012f, kad Fridricho ataksija gali b\u016bti \u012fvairi\u0173 form\u0173 \u2013 nuo gana lengvos iki sunkiausios, kuri\u0105 apra\u0161\u0117 min\u0117tasis N. Fridreichas.<\/p>\n<p>Tyrim\u0173 duomenimis, Europoje i\u0161 vis\u0173 lig\u0173, kurios pasirei\u0161kia koordinacijos sutrikimais (ataksijomis) \u0161i liga yra da\u017eniausia paveldima ataksija.<\/p>\n<p>R. Kaladyt\u0117-Lokominien\u0117 ai\u0161kina, kad dalis \u017emoni\u0173 yra mutavusi\u0173 geno FXN kopij\u0173 ne\u0161iotojai, bet sveikatos problemos jiems nepasirei\u0161kia. <\/p>\n<p>Ta\u010diau kai du ne\u0161iotojai susilaukia at\u017ealos, \u012f vien\u0105 por\u0105 gali \u201esukristi\u201d dvi geno su defektu kopijos, tod\u0117l vaikui tenka ligos na\u0161ta.\u00a0<\/p>\n<p>Manoma, kad Europoje Fridricho ataksija serga vienas i\u0161 30\u201350 t\u016bkst. gyventoj\u0173, arba 1 milijonui gyventoj\u0173 tenka apie 40 ligos atvej\u0173. <\/p>\n<p>Anot pa\u0161nekov\u0117s, kadangi lietuviai turi tradicin\u012f europie\u010di\u0173 genofond\u0105, teori\u0161kai m\u016bs\u0173 \u0161alyje gal\u0117t\u0173 b\u016bti apie 100 pacient\u0173. <\/p>\n<p>Ta\u010diau kol kas genetiniais tyrimais Fridricho ataksija n\u0117ra nustatyta n\u0117 vienam \u017emogui Lietuvoje.\u00a0<\/p>\n<h2 id=\"\u0161eimos-gydytojui-tenka-itin-svarbi-u\u017eduotis\" class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Seimos_gydytojui_tenka_itin_svarbi_uzduotis\"><\/span>\u0160eimos gydytojui tenka itin svarbi u\u017eduotis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Galimyb\u0117s atlikti tyrimus Lietuvoje atsirado ma\u017edaug prie\u0161 10 met\u0173. Kilus \u012ftarim\u0173, genetinis paciento i\u0161tyrimas atliekamas Vilniaus universiteto ligonin\u0117s Santaros klinik\u0173 \u017dmogaus genetikos centre. R. Kaladyt\u0117-Lokominien\u0117 atkreipia d\u0117mes\u012f, kad aptikti lig\u0105 n\u0117ra paprasta. <\/p>\n<p>Mat atliekant plat\u0173 genomo tyrim\u0105, kai analizuojamos koduojan\u010dios genomo dalys, tradici\u0161kai tiriama tam tikra geno dalis. O Fridricho ataksijos informacij\u0105 talpinanti geno dalis intronas \u2013 netiriama. Taigi, lig\u0105 aptikti galima tik labai tikslingai nusitaikius \u012f konkre\u010di\u0105 viet\u0105.\u00a0<\/p>\n<p>Matydamas klinikini\u0173 aprai\u0161k\u0173 kompleks\u0105: koordinacijos sutrikimus, stuburo ir p\u0117d\u0173 deformacijas, \u0161irdies problemas \u2013 kardiomiopatij\u0105 ir kt. \u0161eimos gydytojas pacient\u0105 gali si\u0173sti tiesiai pas genetikos specialist\u0105. <\/p>\n<p>Atitinkamai, atsi\u017evelg\u0119s \u012f duomenis, genetikas nuspr\u0119s, ar toks tyrimas yra pagr\u012fstas. <\/p>\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u201eDidel\u0119 svarb\u0105 turi duomenys apie Fridricho ataksijos aprai\u0161kas gimin\u0117je \u2013 gal \u0161ia liga sirgo seneliai, gal liga klini\u0161kai buvo diagnozuota d\u0117dei, tetai ar kitam giminai\u010diui. I\u0161siai\u0161kindamas \u0161i\u0105 informacij\u0105 \u0161eimos gydytojas atlieka svarbi\u0105 u\u017eduot\u012f\u201d, \u2013 pabr\u0117\u017eia ret\u0173 lig\u0173 specialist\u0117.\u00a0<\/p>\n<\/blockquote>\n<p>Pasteb\u0117j\u0119s neurologinius sutrikimus, \u0161eimos gydytojas atsi\u017evelgdamas \u012f paciento am\u017ei\u0173 gali j\u012f nukreipti pas specialist\u0105 neurolog\u0105. <\/p>\n<p>Jeigu yra \u0161irdies veiklos sutrikim\u0173 \u2013 i\u0161ra\u0161omas siuntimas d\u0117l kardiomiopatijos pas kardiolog\u0105. <\/p>\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u201eB\u016btent \u0161eimos gydytojas gali sujungti visus ta\u0161kus, atskleisti vis\u0105 problem\u0173 kompleks\u0105 ir suformuoti pagrind\u0105 genetiniam i\u0161tyrimui\u201d, \u2013 pirminio lygio specialisto svarb\u0105 akcentuoja R. Kaladyt\u0117-Lokominien\u0117.<\/p>\n<\/blockquote>\n<h2 id=\"fridricho-ataksija-turi-daug-veid\u0173\" class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Fridricho_ataksija_turi_daug_veidu\"><\/span>Fridricho ataksija turi daug veid\u0173<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Pasak ret\u0173 lig\u0173 ekspert\u0117s, prasid\u0117jus genetini\u0173 tyrim\u0173 erai buvo nustatyta, kad Fridricho ataksijos forma ypa\u010d priklauso nuo geno defekto lygmens. <\/p>\n<p>Pagrindinis Fridricho ataksij\u0105 sukeliantis genetinis veiksnys yra mutacijos FXN gene, kuris koduoja frataksin\u0105 \u2013 baltym\u0105, svarb\u0173 mitochondrij\u0173 funkcijai.<\/p>\n<p>Fridricho ataksija pasirei\u0161kia tada, kai frataksino gamyba yra suma\u017e\u0117jusi. Jeigu baltymo deficitas yra didelis \u2013 ligos forma sunkesn\u0117. <\/p>\n<p>Jeigu deficitas ma\u017eas, tai liga progresuoja l\u0117\u010diau, jos simptomai gali b\u016bti lengvesni.\u00a0<\/p>\n<p>Frataksino deficito lygis gali b\u016bti labai skirtingas, tad ir liga gali pasireik\u0161ti labai \u012fvairiai: vienam pacientui \u2013 vaikyst\u0117je, kitam \u2013 sulaukus 60 ar daugiau met\u0173. <\/p>\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u201eB\u016btent d\u0117l to gydytojai privalo i\u0161likti budr\u016bs ir ne\u012fsprausti Fridricho ataksijos \u012f tam tikrus r\u0117mus, tarkim, kad tai yra tik atitinkamo am\u017eiaus \u017emoni\u0173 liga\u201d, \u2013 \u012fsitikinusi R. Kaladyt\u0117-Lokominien\u0117.\u00a0 <\/p>\n<\/blockquote>\n<p>D\u0117l to medik\u0173 bendruomen\u0117 tur\u0117t\u0173 dalytis informacija ir aktyviau si\u0173sti pacientus genetiniam i\u0161tyrimui.<\/p>\n<p>Pa\u0161nekov\u0117 atkreipia d\u0117mes\u012f, kad ankstyva diagnoz\u0117 ir gydytoj\u0173 komandos prie\u017ei\u016bra gali pad\u0117ti efektyviau valdyti ligos simptomus ir sul\u0117tinti progresavim\u0105.<\/p>\n<p>Genetini\u0173 lig\u0173 specialist\u0173 bendruomen\u0119 viltingai nuteikia ir medicinos pa\u017eanga. 2023 metais JAV maisto ir vaist\u0173 administracija (FDA) u\u017eregistravo pirm\u0105j\u012f vaistin\u012f preparat\u0105, skirt\u0105 Fridricho ataksijai gydyti. <\/p>\n<p>\u0160iemet nauj\u0105j\u012f medikament\u0105 u\u017eregistravo ir Europos vaist\u0173 agent\u016bra, kartu naujov\u0117 tapo prieinama ir Lietuvai. <\/p>\n<p>Nors klinikiniai tyrimai atliekami palyginti neilgai, ta\u010diau jie rodo, kad vaistas l\u0117tina ligos progresavim\u0105.<\/p>\n<p><span><em>\u2022 Prane\u0161imas spaudai Reta liga \u2013 \u0161imto lietuvi\u0173 genuose, tik kaip j\u0105 aptikti? pateiktas sistemoje Spaudos centras. Prane\u0161im\u0105 spaudai paskelb\u0117 Fabula Rud Pedersen Group<\/em><\/span><\/p>\n<div class=\"g g-43\">\n<div class=\"g-single a-213\"><\/div>\n<\/div>\n<\/div>\n<p><script>(function(d, s, id) {\nvar js, fjs = d.getElementsByTagName(s)[0];\nif (d.getElementById(id)) return;\njs = d.createElement(s); js.id = id;\njs.src = \"\/\/connect.facebook.net\/lt_LT\/sdk.js#xfbml=1&version=v2.10\";\nfjs.parentNode.insertBefore(js, fjs);\n}(document, 'script', 'facebook-jssdk'));<\/script><br \/>\n<br \/><br \/>\n<br \/><a href=\"https:\/\/miestonaujienos.lt\/reta-liga-simto-lietuviu-genuose-tik-kaip-ja-aptikti\/\">Source link <\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Fridricho ataksija \u2013 genetin\u0117 liga, b\u016bdinga europie\u010diams. Vakar\u0173 Europoje atlikti skai\u010diavimai ir tyrimai leid\u017eia daryti prielaid\u0105, kad \u0161iuo metu Lietuvoje yra apie \u0161imt\u0105 \u0161ia liga [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":1337,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"om_disable_all_campaigns":false,"_monsterinsights_skip_tracking":false,"footnotes":""},"categories":[3],"tags":[3600,3599,785,242,2019,3597,3596,3598,1892],"class_list":["post-1336","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-salies-naujienos","tag-aptikti","tag-genuose","tag-ja","tag-kaip","tag-lietuviu","tag-liga","tag-reta","tag-simto","tag-tik"],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO 5.0.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"RESPUBLIKOS INFO \u2013 tai naujien\u0173 \u0161altinis, kuriame pateikiama aktuali informacija apie \u0161alies \u012fvykius, politik\u0105, 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