Novorozeneck\u00e9 odd\u011blen\u00ed Nemocnice T\u0159inec nab\u00edz\u00ed bezplatn\u011b v\u0161em sv\u00fdm novorozenc\u016fm screening, kter\u00fd se prov\u00e1d\u00ed za \u00fa\u010delem v\u010dasn\u00e9ho rozpozn\u00e1n\u00ed d\u011bdi\u010dn\u00fdch a metabolick\u00fdch vad.<\/p>\n\n\n\n
Vy\u0161et\u0159en\u00ed dvou vz\u00e1cn\u00fdch d\u011bdi\u010dn\u00fdch onemocn\u011bn\u00ed, a to spin\u00e1ln\u00ed muskul\u00e1rn\u00ed atrofie (SMA) a t\u011b\u017ek\u00e9 kombinovan\u00e9 imunodeficience (SCID) je v porodnici Nemocnice T\u0159inec prov\u00e1d\u011bna ji\u017e od \u0159\u00edjna 2021. Vy\u0161et\u0159en\u00ed, kter\u00e9 bylo zprvu zpoplatn\u011bno, je nyn\u00ed v r\u00e1mci celoplo\u0161n\u00e9ho pilotn\u00edho projektu od 1. ledna 2022 zcela zdarma.<\/p>\n\n\n\n
Prov\u00e1d\u00ed se, v r\u00e1mci novorozeneck\u00e9ho screeningu, ze such\u00e9 kapky krve, kter\u00e1 je v\u0161em novorozenc\u016fm odeb\u00edr\u00e1na 48\u201372 hodin po porodu pro jin\u00e1 screeningov\u00e1 vy\u0161et\u0159en\u00ed metabolick\u00fdch poruch. B\u011bhem pobytu v t\u0159ineck\u00e9 porodnici sta\u010d\u00ed ud\u011blit souhlas s vy\u0161et\u0159en\u00edm a v\u0161e ostatn\u00ed vy\u0159\u00edd\u00ed person\u00e1l novorozeneck\u00e9ho odd\u011blen\u00ed. V\u00fdsledek je zn\u00e1m nejpozd\u011bji do p\u011bti t\u00fddn\u016f.<\/p>\n\n\n\n
Spin\u00e1ln\u00ed svalov\u00e1 atrofie je po cystick\u00e9 fibr\u00f3ze druhou nej\u010dast\u011bj\u0161\u00ed poruchou s odhadovan\u00fdm v\u00fdskytem 1 z 10 000 novorozenc\u016f. Jedn\u00e1 se o neurodegenerativn\u00ed onemocn\u011bn\u00ed zp\u016fsoben\u00e9 postupn\u00fdm z\u00e1nikem nervov\u00fdch bun\u011bk, kter\u00e9 zaji\u0161\u0165uj\u00ed p\u0159enos informac\u00ed na svalov\u00e1 vl\u00e1kna.<\/p>\n\n\n\n
\u201eHlavn\u00edm klinick\u00fdm p\u0159\u00edznakem je p\u0159edev\u0161\u00edm postupuj\u00edc\u00ed sn\u00ed\u017een\u00ed svalov\u00e9ho nap\u011bt\u00ed a svalov\u00e1 slabost. S t\u00edm souvis\u00ed dal\u0161\u00ed pot\u00ed\u017ee s d\u00fdch\u00e1n\u00edm, polyk\u00e1n\u00edm nebo postaven\u00edm p\u00e1te\u0159e. Klinick\u00fd obraz zahrnuje \u0161irok\u00e9 spektrum posti\u017een\u00ed od imobiln\u00edch novorozenc\u016f s \u010dasn\u00fdm \u00famrt\u00edm po dosp\u011bl\u00e9 pacienty s jen m\u00edrnou slabost\u00ed. Nemoc je klasifikov\u00e1na do \u010dty\u0159 typ\u016f dle dosa\u017een\u00fdch pohybov\u00fdch schopnost\u00ed a dle v\u011bku, kdy pot\u00ed\u017ee za\u010daly. SMA je prvn\u00edm geneticky podm\u00edn\u011bn\u00fdm onemocn\u011bn\u00edm, pro kter\u00e9 byla vyvinuta genov\u00e1 terapie. L\u00e9\u010dba dok\u00e1\u017ee zastavit chorobn\u00fd proces v okam\u017eiku jej\u00edho zah\u00e1jen\u00ed, ale nedok\u00e1\u017ee vyl\u00e9\u010dit p\u0159\u00edznaky ji\u017e vznikl\u00e9. \u010cas tedy hraje z\u00e1sadn\u00ed roli a brzk\u00e9 stanoven\u00ed diagn\u00f3zy je pro l\u00e9\u010dbu z\u00e1sadn\u00ed,\u201c vysv\u011btlila Beata Sikorov\u00e1, l\u00e9ka\u0159ka d\u011btsk\u00e9ho odd\u011blen\u00ed Nemocnice T\u0159inec.<\/p>\n\n\n\n
Genetick\u00e9 vy\u0161et\u0159en\u00ed TREC a KREC um\u00ed v\u010das odhalit z\u00e1va\u017en\u00e9 poruchy v\u00fdvoje bun\u011b\u010dn\u00e9 a protil\u00e1tkov\u00e9 imunity, tzv. syndrom t\u011b\u017ek\u00e9 kombinovan\u00e9 imunodeficience. To umo\u017e\u0148uje u posti\u017een\u00e9ho d\u00edt\u011bte ihned zah\u00e1jit adekv\u00e1tn\u00ed l\u00e9\u010dbu. Nav\u00edc se u d\u011bt\u00ed s t\u011bmito poruchami imunity nedoporu\u010duje o\u010dkov\u00e1n\u00ed \u017eiv\u00fdmi vakc\u00ednami.<\/p>\n\n\n\n
Tom\u00e1\u0161 Januszek<\/p>\n\n\n\n
Fr\u00fddecko-M\u00edsteck\u00fd a T\u0159ineck\u00fd den\u00edk<\/p>\n\n\n\n
https:\/\/fm.denik.cz\/<\/a><\/p>\n","protected":false},"excerpt":{"rendered":" Novorozeneck\u00e9 odd\u011blen\u00ed Nemocnice T\u0159inec nab\u00edz\u00ed bezplatn\u011b v\u0161em sv\u00fdm novorozenc\u016fm screening, kter\u00fd se prov\u00e1d\u00ed za \u00fa\u010delem v\u010dasn\u00e9ho rozpozn\u00e1n\u00ed d\u011bdi\u010dn\u00fdch a metabolick\u00fdch vad. Vy\u0161et\u0159en\u00ed dvou vz\u00e1cn\u00fdch d\u011bdi\u010dn\u00fdch […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":21938,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[],"class_list":["post-37278","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-zpravy"],"_links":{"self":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/37278","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=37278"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/37278\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/21938"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=37278"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=37278"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=37278"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}