{"id":15422,"date":"2022-11-21T11:00:00","date_gmt":"2022-11-21T10:00:00","guid":{"rendered":"https:\/\/havas.cz\/?post_type=pressroom&#038;p=15422"},"modified":"2023-01-03T16:21:33","modified_gmt":"2023-01-03T15:21:33","slug":"novorozenecky-screening-sma-odhalil-od-pocatku-roku-uz-sest-pripadu-onemocneni-pocet-vysetrenych-deti-by-ale-mohl-byt-dle-odborniku-vyssi%ef%bf%bc","status":"publish","type":"pressroom","link":"https:\/\/havas.cz\/en\/pressroom\/novorozenecky-screening-sma-odhalil-od-pocatku-roku-uz-sest-pripadu-onemocneni-pocet-vysetrenych-deti-by-ale-mohl-byt-dle-odborniku-vyssi%ef%bf%bc\/","title":{"rendered":"Novorozeneck\u00fd screening SMA odhalil od po\u010d\u00e1tku roku u\u017e \u0161est p\u0159\u00edpad\u016f onemocn\u011bn\u00ed. Po\u010det vy\u0161et\u0159en\u00fdch d\u011bt\u00ed by ale mohl b\u00fdt dle odborn\u00edk\u016f vy\u0161\u0161\u00ed\ufffc"},"content":{"rendered":"\n<p>V letech 2010\u20132021 bylo pomoc\u00ed novorozeneck\u00e9ho screeningu odhaleno 230 vz\u00e1cn\u00fdch onemocn\u011bn\u00ed z&nbsp;1&nbsp;337&nbsp;181 \u017eiv\u011b narozen\u00fdch d\u011bt\u00ed.<sup>4<\/sup> D\u00edky tomu jim byla poskytnuta p\u00e9\u010de a&nbsp;l\u00e9\u010dba d\u0159\u00edve, ne\u017e nemoc propukla.<\/p>\n\n\n\n<p class=\"has-text-align-left\"><br>\u201e<em>V\u011bt\u0161ina d\u011bt\u00ed s&nbsp;genetickou vlohou pro SMA se po narozen\u00ed jev\u00ed jako zdrav\u00e1, onemocn\u011bn\u00ed se projev\u00ed nej\u010dast\u011bji s&nbsp;odstupem m\u011bs\u00edc\u016f. V&nbsp;dob\u011b, kdy l\u00e9ka\u0159i onemocn\u011bn\u00ed objev\u00ed, je ji\u017e l\u00e9\u010dba limitov\u00e1na, proto\u017ee jsou p\u0159\u00edznaky d\u016fsledkem nevratn\u00fdch zm\u011bn sval\u016f. Z&nbsp;toho d\u016fvodu je novorozeneck\u00fd screening tak p\u0159elomov\u00fd, umo\u017en\u00ed toti\u017e objeven\u00ed vloh pro SMA je\u0161t\u011b p\u0159ed rozvojem klinick\u00fdch obt\u00ed\u017e\u00ed, kdy l\u00e9\u010dba t\u00e9m\u011b\u0159 zabr\u00e1n\u00ed rozvoji nemoci<\/em>,\u201c \u0159\u00edk\u00e1 doc. MUDr. Jana Haberlov\u00e1, Ph.D., d\u011btsk\u00e1 neurolo\u017eka p\u016fsob\u00edc\u00ed na Klinice d\u011btsk\u00e9 neurologie 2. LF UK a&nbsp;FN Motol.<\/p>\n\n\n\n<p><br><strong>Po\u010det vy\u0161et\u0159en\u00fdch novorozenc\u016f na SMA je pr\u016fm\u011brn\u011b okolo 90&nbsp;%<\/strong><br>Doposud se d\u00edky novorozeneck\u00e9mu screeningu vy\u0161et\u0159ovalo 18 vz\u00e1cn\u00fdch onemocn\u011bn\u00ed, od ledna 2022 se v&nbsp;r\u00e1mci pilotn\u00edho projektu p\u0159idala dv\u011b onemocn\u011bn\u00ed \u2013 SMA a&nbsp;SCID. K&nbsp;vy\u0161et\u0159en\u00ed v&nbsp;r\u00e1mci novorozeneck\u00e9ho screeningu je t\u0159eba, aby rodi\u010de podepsali tzv. informovan\u00fd souhlas.<sup>5<\/sup><\/p>\n\n\n\n<p><br>\u201e<em>Dle posledn\u00edch dat nechalo sv\u00e9 novorozen\u00e9 d\u00edt\u011b od ledna 2022 otestovat na SMA\/SCID pr\u016fm\u011brn\u011b 90&nbsp;% rodi\u010d\u016f. D\u00edky tomu se k&nbsp;dne\u0161ku odhalilo u\u017e \u0161est p\u0159\u00edpad\u016f SMA v\u010das \u2013 v\u0161echny tyto d\u011bti jsou nyn\u00ed l\u00e9\u010deny nebo dle doporu\u010den\u00ed l\u00e9ka\u0159\u016f sledov\u00e1ny,<\/em>\u201c \u0159\u00edk\u00e1 Ing. Karol\u00edna Pe\u0161kov\u00e1, prim\u00e1\u0159ka Diagnostick\u00fdch laborato\u0159\u00ed d\u011bdi\u010dn\u00fdch poruch metabolismu na Klinice pediatrie a&nbsp;d\u011bdi\u010dn\u00fdch poruch metabolismu V\u0161eobecn\u00e9 fakultn\u00ed nemocnice v&nbsp;Praze.<br>\u201e<em>Po\u010det vy\u0161et\u0159en\u00fdch d\u011bt\u00ed v&nbsp;r\u00e1mci novorozeneck\u00e9ho screeningu na SMA by mohl b\u00fdt s&nbsp;v\u016fl\u00ed rodi\u010d\u016f vy\u0161\u0161\u00ed. V\u010dasn\u00e1 diagnostika a&nbsp;l\u00e9\u010dba je u&nbsp;SMA zcela z\u00e1sadn\u00ed faktor efektu l\u00e9\u010dby. Diagnostika a&nbsp;l\u00e9\u010dba SMA a\u017e v&nbsp;dob\u011b po rozvoji klinick\u00fdch obt\u00ed\u017e\u00ed nikdy nevede k&nbsp;\u00fapln\u00e9mu uzdraven\u00ed, ve v\u011bt\u0161in\u011b p\u0159\u00edpad\u016f z\u016fst\u00e1v\u00e1 t\u011b\u017ek\u00fd hendikep \u2013 d\u00edt\u011b nen\u00ed nikdy schopno samostatn\u00e9 ch\u016fze a&nbsp;je od po\u010d\u00e1tku v\u00fdvoje voz\u00ed\u010dk\u00e1\u0159. N\u00e1klady na l\u00e9\u010dbu komplikac\u00ed, vznikl\u00fdch z&nbsp;pozd\u011b diagnostikovan\u00e9 choroby, jsou mnohem vy\u0161\u0161\u00ed ne\u017e na v\u010dasnou l\u00e9\u010dbu. Jak pro rodi\u010de, tak pro sys<\/em>t\u00e9m zdravotn\u00ed p\u00e9\u010de. <em>Proto rodi\u010d\u016fm<\/em> <em>vy\u0161et\u0159en\u00ed na SMA v&nbsp;r\u00e1mci novorozeneck\u00e9ho screeningu jednozna\u010dn\u011b doporu\u010duji,<\/em>\u201c zd\u016fraz\u0148uje docentka Haberlov\u00e1.<\/p>\n\n\n\n<p><br><strong>Rozd\u00edl ve v\u00fdvoji a&nbsp;kvalit\u011b \u017eivota je z\u00e1sadn\u00ed<\/strong><br>P\u0159edseda pacientsk\u00e9 organizace SM\u00c1ci a&nbsp;tat\u00ednek Bo\u017eenky a&nbsp;Bed\u0159icha s&nbsp;SMA, V\u00e1clav Hradilek, vysv\u011btluje: \u201e<em>Rozd\u00edl ve v\u00fdvoji a&nbsp;kvalit\u011b \u017eivota d\u00edt\u011bte s&nbsp;SMA je p\u0159i v\u010dasn\u00e9 diagnostice a&nbsp;l\u00e9\u010db\u011b naprosto diametr\u00e1ln\u00ed. Bu\u010f m\u00e1te d\u00edt\u011b, kter\u00e9 si sedne jen s&nbsp;va\u0161\u00ed pomoc\u00ed a&nbsp;v\u016fbec se neudr\u017e\u00ed, nebo m\u00e1te d\u00edt\u011b, kter\u00e9 b\u011bh\u00e1. U&nbsp;na\u0161\u00ed dcery Bo\u017eenky se nemoc odhalila a\u017e v&nbsp;jednom roce a&nbsp;l\u00e9\u010dba j\u00ed byla pod\u00e1na je\u0161t\u011b o&nbsp;dost pozd\u011bji. Proto je jej\u00ed posti\u017een\u00ed zna\u010dn\u00e9 a&nbsp;p\u00e9\u010de o&nbsp;ni velmi n\u00e1ro\u010dn\u00e1 pro celou rodinu. Naopak u&nbsp;na\u0161eho syna Bed\u0159icha se v\u0161e podchytilo v\u010das a&nbsp;byl zal\u00e9\u010den hned po narozen\u00ed. Nyn\u00ed m\u00e1 11 m\u011bs\u00edc\u016f, za\u010d\u00edn\u00e1 chodit a&nbsp;vyv\u00edj\u00ed se jako zdrav\u00e9 d\u00edt\u011b. Novorozeneck\u00fd screening je opravdu kl\u00ed\u010dov\u00fd.<\/em>\u201c<\/p>\n\n\n\n<p><br><strong>Z\u00e1va\u017en\u00e1 nemoc dopad\u00e1 na celou rodinu<\/strong><br>M\u00edstop\u0159edseda \u010cesk\u00e9 asociace pro vz\u00e1cn\u00e1 onemocn\u011bn\u00ed Ren\u00e9 B\u0159e\u010d\u0165an vysv\u011btluje, \u017ee z\u00e1va\u017en\u00e9 onemocn\u011bn\u00ed neovliv\u0148uje pouze pacienta, ale celou rodinu. \u201e<em>Mnohdy mluv\u00edme o&nbsp;kvalit\u011b \u017eivota pacienta, ale zapom\u00edn\u00e1me na jeho pe\u010dovatele a&nbsp;rodinu, kter\u00e1 je z\u00e1va\u017en\u00fdm onemocn\u011bn\u00edm d\u00edt\u011bte extr\u00e9mn\u011b zasa\u017eena. Rodi\u010de s&nbsp;pozd\u011b diagnostikovan\u00fdmi d\u011btmi jsou \u010dasto zcela vy\u0159azeni ze spole\u010dnosti, v\u0161echen \u010das i&nbsp;finance v\u011bnuj\u00ed p\u00e9\u010di o&nbsp;d\u00edt\u011b, n\u011bkdy ani nemohou pracovat. Je to neuv\u011b\u0159iteln\u011b vy\u010derp\u00e1vaj\u00edc\u00ed fyzicky i&nbsp;psychicky. Na druh\u00e9 stran\u011b vid\u00edme v\u010das zal\u00e9\u010den\u00e9 d\u011bti, kter\u00fdm l\u00e9\u010dba zastavila progresi onemocn\u011bn\u00ed, a&nbsp;jejich rodiny \u017eij\u00ed skoro norm\u00e1ln\u00ed \u017eivot.<\/em>\u201c<br>V\u00edce informac\u00ed na <a href=\"http:\/\/www.novorozeneckyscreening.cz\" target=\"_blank\" rel=\"noreferrer noopener\">www.novorozeneckyscreening.cz<\/a> a&nbsp;<a href=\"http:\/\/www.spinalnisvalovaatrofie.cz\" target=\"_blank\" rel=\"noreferrer noopener\">www.spinalnisvalovaatrofie.cz<\/a>.<\/p>\n\n\n\n<p><strong>*\u00a0P\u0159ehled vy\u0161et\u0159ovan\u00fdch nemoc\u00ed:<\/strong><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><a href=\"https:\/\/havas.cz\/wp-content\/uploads\/2023\/01\/image-1.png\" rel=\"lightbox\" ><img loading=\"lazy\" decoding=\"async\" width=\"628\" height=\"465\" src=\"https:\/\/havas.cz\/wp-content\/uploads\/2023\/01\/image-1.png\" alt=\"\" class=\"wp-image-15445\" srcset=\"https:\/\/havas.cz\/wp-content\/uploads\/2023\/01\/image-1.png 628w, https:\/\/havas.cz\/wp-content\/uploads\/2023\/01\/image-1-300x222.png 300w\" sizes=\"auto, (max-width: 628px) 100vw, 628px\" \/><\/a><\/figure>\n\n\n\n<p><a href=\"applewebdata:\/\/AA897540-70A9-4147-98FD-4D5FCAC3D71A#_ftnref1\"><sup>[1]<\/sup><\/a>\u00a0Pilotn\u00ed projekt screeningov\u00e9ho vy\u0161et\u0159en\u00ed dvou vz\u00e1cn\u00fdch onemocn\u011bn\u00ed (SMA a&nbsp;SCID) je prozat\u00edm ustanoven na dva roky. V\u00a0gesci ho m\u00e1 N\u00e1rodn\u00ed screeningov\u00e9 centrum \u00daZIS a&nbsp;Koordina\u010dn\u00ed centrum pro novorozeneck\u00fd screening.<\/p>\n\n\n\n<p><strong>*\u00a0V\u00fdsledky novorozeneck\u00e9ho screeningu v\u00a0letech 2010\u20132021:<\/strong><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><a href=\"https:\/\/havas.cz\/wp-content\/uploads\/2023\/01\/image-2.png\" rel=\"lightbox\" ><img loading=\"lazy\" decoding=\"async\" width=\"317\" height=\"421\" src=\"https:\/\/havas.cz\/wp-content\/uploads\/2023\/01\/image-2.png\" alt=\"\" class=\"wp-image-15447\" srcset=\"https:\/\/havas.cz\/wp-content\/uploads\/2023\/01\/image-2.png 317w, https:\/\/havas.cz\/wp-content\/uploads\/2023\/01\/image-2-226x300.png 226w\" sizes=\"auto, (max-width: 317px) 100vw, 317px\" \/><\/a><\/figure>\n\n\n\n<p>Zdroj:&nbsp;<a href=\"https:\/\/www.novorozeneckyscreening.cz\/souhrnne-vysledky\">https:\/\/www.novorozeneckyscreening.cz\/souhrnne-vysledky<\/a><\/p>\n\n\n\n<p>Zdroje:&nbsp;<\/p>\n\n\n\n<ol class=\"wp-block-list\" type=\"1\"><li>HRADILEK, V\u00e1clav a&nbsp;STOL\u00cdNOV\u00c1, Barbora. Novorozeneck\u00fd screening na SMA u\u017e od 1. 1. 2022. In:&nbsp;<em>Smaci.cz<\/em>&nbsp;[online]. 8. 6. 2021 [cit. 2021-10-22]. Dostupn\u00e9 z:&nbsp;<a href=\"https:\/\/smaci.cz\/aktuality\/na-seminari-v-senaru-byl-oznamen-datum-zahajeni-plosneho-novorozeneckeho-screeningu-na-sma\">https:\/\/smaci.cz\/aktuality\/na-seminari-v-senaru-byl-oznamen-datum-zahajeni-plosneho-novorozeneckeho-screeningu-na-sma<\/a><\/li><li>HABERLOV\u00c1, Jana. Konference Prevon 2022 [online]. 8. 6. 2021 [cit. 2021-10-22]. Dostupn\u00e9 z:&nbsp;<a href=\"https:\/\/prevon.uzis.cz\/res\/file\/prezentace\/2022\/03-haberlova.pdf\">https:\/\/prevon.uzis.cz\/res\/file\/prezentace\/2022\/03-haberlova.pdf<\/a>, Pozn. Po\u010det d\u011bt\u00ed byl upraven z&nbsp;5 na 6 pan\u00ed docentkou Haberlovou na z\u00e1klad\u011b aktu\u00e1ln\u00edho v\u00fdvoje.<\/li><li>PE\u0160KOV\u00c1, Karol\u00edna. Konference Prevon 2022 [online]. 8. 6. 2021 [cit. 2021-10-22]. Dostupn\u00e9 z:&nbsp;<a href=\"https:\/\/prevon.uzis.cz\/index.php?pg=prezentace\">https:\/\/prevon.uzis.cz\/index.php?pg=prezentace<\/a>&nbsp;&nbsp;<\/li><li><em>Novorozeneck\u00fd screening<\/em>&nbsp;[online]. 8. 6. 2021 [cit. 2021-10-22]. Dostupn\u00e9 z:&nbsp;<a href=\"https:\/\/www.novorozeneckyscreening.cz\/souhrnne-vysledky\">https:\/\/www.novorozeneckyscreening.cz\/souhrnne-vysledky<\/a><\/li><li><em>Novorozeneck\u00fd screening<\/em>&nbsp;[online]. 8. 6. 2021 [cit. 2021-10-22]. Dostupn\u00e9 z:&nbsp;<a href=\"https:\/\/www.novorozeneckyscreening.cz\/co-je-novorozenecky-screening\">https:\/\/www.novorozeneckyscreening.cz\/co-je-novorozenecky-screening<\/a><\/li><\/ol>\n\n\n\n<hr class=\"wp-block-separator\"\/>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>V\u010dasn\u00e1 diagnostika a l\u00e9\u010dba znamen\u00e1 u \u0159ady vz\u00e1cn\u00fdch onemocn\u011bn\u00ed \u0161anci na norm\u00e1ln\u00ed \u017eivot d\u00edt\u011bte i jeho rodiny. Od ledna 2022 se v r\u00e1mci pilotn\u00edho programu novorozeneck\u00e9ho screeningu nov\u011b vy\u0161et\u0159uje i spin\u00e1ln\u00ed svalov\u00e1 atrofie (SMA) a t\u011b\u017ek\u00e1 kombinovan\u00e1 imunodeficience (SCID). D\u00edky tomu se od za\u010d\u00e1tku roku poda\u0159ilo v\u010das odhalit u\u017e \u0161est p\u0159\u00edpad\u016f SMA. Po\u010det vy\u0161et\u0159en\u00fdch novorozenc\u016f na SMA\/SCID se od ledna 2022 pohybuje okolo 90 %, co\u017e je pod pr\u016fm\u011brem dal\u0161\u00edch vy\u0161et\u0159ovan\u00fdch nemoc\u00ed. Dle odborn\u00edk\u016f je ale \u0161koda, \u017ee ne v\u0161ichni rodi\u010de t\u00e9to mo\u017enosti vyu\u017e\u00edvaj\u00ed. Ob\u011b onemocn\u011bn\u00ed zp\u016fsobuj\u00ed nevratn\u00e9 posti\u017een\u00ed, kter\u00e9mu lze ranou diagnostikou a vhodnou l\u00e9\u010dbou zabr\u00e1nit. <\/p>\n","protected":false},"author":48,"featured_media":15441,"menu_order":0,"template":"","meta":{"_links_to":"","_links_to_target":""},"pressroom_category":[],"pressroom_tag":[204],"class_list":["post-15422","pressroom","type-pressroom","status-publish","has-post-thumbnail","hentry","pressroom_tag-zdravi"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Novorozeneck\u00fd screening SMA odhalil od po\u010d\u00e1tku roku u\u017e \u0161est p\u0159\u00edpad\u016f onemocn\u011bn\u00ed. Po\u010det vy\u0161et\u0159en\u00fdch d\u011bt\u00ed by ale mohl b\u00fdt dle odborn\u00edk\u016f vy\u0161\u0161\u00ed\ufffc - Havas Prague<\/title>\n<meta name=\"description\" content=\"V\u010dasn\u00e1 diagnostika a l\u00e9\u010dba znamen\u00e1 u \u0159ady vz\u00e1cn\u00fdch onemocn\u011bn\u00ed \u0161anci na norm\u00e1ln\u00ed \u017eivot d\u00edt\u011bte i jeho rodiny. Od ledna 2022 se v r\u00e1mci pilotn\u00edho programu novorozeneck\u00e9ho screeningu nov\u011b vy\u0161et\u0159uje i spin\u00e1ln\u00ed svalov\u00e1 atrofie (SMA) a t\u011b\u017ek\u00e1 kombinovan\u00e1 imunodeficience (SCID). D\u00edky tomu se od za\u010d\u00e1tku roku poda\u0159ilo v\u010das odhalit u\u017e \u0161est p\u0159\u00edpad\u016f SMA. Po\u010det vy\u0161et\u0159en\u00fdch novorozenc\u016f na SMA\/SCID se od ledna 2022 pohybuje okolo 90 %, co\u017e je pod pr\u016fm\u011brem dal\u0161\u00edch vy\u0161et\u0159ovan\u00fdch nemoc\u00ed. Dle odborn\u00edk\u016f je ale \u0161koda, \u017ee ne v\u0161ichni rodi\u010de t\u00e9to mo\u017enosti vyu\u017e\u00edvaj\u00ed. Ob\u011b onemocn\u011bn\u00ed zp\u016fsobuj\u00ed nevratn\u00e9 posti\u017een\u00ed, kter\u00e9mu lze ranou diagnostikou a vhodnou l\u00e9\u010dbou zabr\u00e1nit.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/havas.cz\/pressroom\/novorozenecky-screening-sma-odhalil-od-pocatku-roku-uz-sest-pripadu-onemocneni-pocet-vysetrenych-deti-by-ale-mohl-byt-dle-odborniku-vyssi\ufffc\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Novorozeneck\u00fd screening SMA odhalil od po\u010d\u00e1tku roku u\u017e \u0161est p\u0159\u00edpad\u016f onemocn\u011bn\u00ed. Po\u010det vy\u0161et\u0159en\u00fdch d\u011bt\u00ed by ale mohl b\u00fdt dle odborn\u00edk\u016f vy\u0161\u0161\u00ed\ufffc - Havas Prague\" \/>\n<meta property=\"og:description\" content=\"V\u010dasn\u00e1 diagnostika a l\u00e9\u010dba znamen\u00e1 u \u0159ady vz\u00e1cn\u00fdch onemocn\u011bn\u00ed \u0161anci na norm\u00e1ln\u00ed \u017eivot d\u00edt\u011bte i jeho rodiny. Od ledna 2022 se v r\u00e1mci pilotn\u00edho programu novorozeneck\u00e9ho screeningu nov\u011b vy\u0161et\u0159uje i spin\u00e1ln\u00ed svalov\u00e1 atrofie (SMA) a t\u011b\u017ek\u00e1 kombinovan\u00e1 imunodeficience (SCID). D\u00edky tomu se od za\u010d\u00e1tku roku poda\u0159ilo v\u010das odhalit u\u017e \u0161est p\u0159\u00edpad\u016f SMA. Po\u010det vy\u0161et\u0159en\u00fdch novorozenc\u016f na SMA\/SCID se od ledna 2022 pohybuje okolo 90 %, co\u017e je pod pr\u016fm\u011brem dal\u0161\u00edch vy\u0161et\u0159ovan\u00fdch nemoc\u00ed. Dle odborn\u00edk\u016f je ale \u0161koda, \u017ee ne v\u0161ichni rodi\u010de t\u00e9to mo\u017enosti vyu\u017e\u00edvaj\u00ed. 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