{"id":1384241,"date":"2026-08-18T08:38:23","date_gmt":"2026-08-18T06:38:23","guid":{"rendered":"https:\/\/dnaera.com\/cs\/?p=1384241"},"modified":"2026-08-18T08:38:24","modified_gmt":"2026-08-18T06:38:24","slug":"familiarni-dysautonomie","status":"publish","type":"post","link":"https:\/\/dnaera.com\/cs\/blog\/familiarni-dysautonomie\/","title":{"rendered":"D\u00fdch\u00e1n\u00ed, tr\u00e1ven\u00ed, krevn\u00ed tlak bez kontroly a \u017e\u00e1dn\u00e1 bolest? M\u016f\u017ee za to vz\u00e1cn\u00e1 genetick\u00e1 porucha."},"content":{"rendered":"\n<p class=\"wp-block-paragraph\"><em><em>P\u0159edstavte si, \u017ee va\u0161e t\u011blo nedok\u00e1\u017ee spr\u00e1vn\u011b regulovat d\u00fdch\u00e1n\u00ed, krevn\u00ed tlak, tr\u00e1ven\u00ed ani tvorbu slz. A kdy\u017e se uhod\u00edte nebo pop\u00e1l\u00edte, bolest t\u00e9m\u011b\u0159 nec\u00edt\u00edte. Funkce, kter\u00e9 v\u011bt\u0161ina z n\u00e1s pova\u017euje za samoz\u0159ejm\u00e9 a v\u016fbec si je neuv\u011bdomuje, \u0159\u00edd\u00ed autonomn\u00ed nervov\u00fd syst\u00e9m. Pr\u00e1v\u011b jeho fungov\u00e1n\u00ed je u famili\u00e1rn\u00ed dysautonomie v\u00e1\u017en\u011b naru\u0161eno.<\/em><\/em><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Famili\u00e1rn\u00ed dysautonomie, zn\u00e1m\u00e1 tak\u00e9 jako Riley-Day\u016fv syndrom, je velmi vz\u00e1cn\u00e9 d\u011bdi\u010dn\u00e9 onemocn\u011bn\u00ed, kter\u00e9 ovliv\u0148uje v\u00fdvoj a funkci nerv\u016f zodpov\u011bdn\u00fdch za vn\u00edm\u00e1n\u00ed bolesti, teploty a za automatickou regulaci mnoha \u017eivotn\u011b d\u016fle\u017eit\u00fdch funkc\u00ed organismu. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">P\u0159\u00ed\u010dinou je mutace <strong>v genu ELP1<\/strong>. Tento gen je d\u016fle\u017eit\u00fd pro spr\u00e1vn\u00fd v\u00fdvoj a fungov\u00e1n\u00ed nervov\u00fdch bun\u011bk. Pokud nefunguje spr\u00e1vn\u011b, \u010d\u00e1st nerv\u016f se nevyvine nebo postupn\u011b zanik\u00e1, co\u017e vede k cel\u00e9 \u0159ad\u011b zdravotn\u00edch probl\u00e9m\u016f. P\u0159\u00edznaky se v pr\u016fb\u011bhu \u017eivota zhor\u0161uj\u00ed a kon\u010d\u00ed smrt\u00ed. Zaj\u00edmavost\u00ed je, \u017ee se vyskytuje t\u00e9m\u011b\u0159 v\u00fdlu\u010dn\u011b pouze v populaci a\u0161ken\u00e1zsk\u00fdch \u017did\u016f.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><strong>P\u0159\u00edznaky onemocn\u011bn\u00ed:<\/strong><\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Tr\u00e1vic\u00ed syst\u00e9m:<\/strong> reflux, zvracen\u00ed, pot\u00ed\u017ee s polyk\u00e1n\u00edm a dal\u0161\u00ed za\u017e\u00edvac\u00ed pot\u00ed\u017ee.\u00a0<\/li>\n\n\n\n<li><strong>Krevn\u00ed tlak:<\/strong> v\u00fdrazn\u00e9 kol\u00eds\u00e1n\u00ed krevn\u00edho tlaku, z\u00e1vrat\u011b p\u0159i vst\u00e1v\u00e1n\u00ed (ortostatick\u00e1 hypotenze) nebo naopak epizody velmi vysok\u00e9ho krevn\u00edho tlaku.\u00a0<\/li>\n\n\n\n<li><strong>Autonomn\u00ed krize:<\/strong> z\u00e1chvaty doprov\u00e1zen\u00e9 siln\u00fdm zvracen\u00edm, zrychlen\u00fdm pulsem, vysok\u00fdm krevn\u00edm tlakem, nadm\u011brn\u00fdm pocen\u00edm a hore\u010dkou.\u00a0<\/li>\n\n\n\n<li><strong>O\u010di: <\/strong>sn\u00ed\u017een\u00e1 tvorba slz, kter\u00e1 m\u016f\u017ee v\u00e9st k vysych\u00e1n\u00ed a po\u0161kozen\u00ed o\u010d\u00ed.\u00a0<\/li>\n\n\n\n<li><strong>D\u00fdchac\u00ed syst\u00e9m:<\/strong> opakovan\u00e9 z\u00e1paly plic, \u010dasto v d\u016fsledku poruch polyk\u00e1n\u00ed.\u00a0<\/li>\n\n\n\n<li><strong>Pohybov\u00fd apar\u00e1t:<\/strong> poruchy rovnov\u00e1hy, nejist\u00e1 ch\u016fze a zak\u0159iven\u00ed p\u00e1te\u0159e (skoli\u00f3za).\u00a0<\/li>\n\n\n\n<li><strong>Vn\u00edm\u00e1n\u00ed bolesti a teploty:<\/strong> sn\u00ed\u017een\u00e1 citlivost na bolest a teplo, co\u017e zvy\u0161uje riziko, \u017ee si \u010dlov\u011bk nev\u0161imne poran\u011bn\u00ed nebo pop\u00e1len\u00ed.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong><strong><strong><strong><strong><strong>U koho se onemocn\u011bn\u00ed projev<\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong>\u00ed<strong><strong><strong><strong><strong><strong>?<\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Famili\u00e1rn\u00ed dysautonomie se d\u011bd\u00ed <strong>autozom\u00e1ln\u011b recesivn\u011b<\/strong>. To znamen\u00e1, \u017ee onemocn\u011bn\u00ed se projev\u00ed pouze v p\u0159\u00edpad\u011b, \u017ee d\u00edt\u011b zd\u011bd\u00ed po\u0161kozenou kopii genu od obou rodi\u010d\u016f. Pokud zd\u011bd\u00ed mutaci pouze od jednoho z nich, bude zdrav\u00fdm nositelem \u2013 onemocn\u011bn\u00ed se u n\u011bj neprojev\u00ed, ale m\u016f\u017ee mutaci p\u0159edat sv\u00fdm d\u011btem. Jsou-li oba rodi\u010de nositeli, existuje p\u0159i ka\u017ed\u00e9m t\u011bhotenstv\u00ed 25% pravd\u011bpodobnost, \u017ee se narod\u00ed d\u00edt\u011b s famili\u00e1rn\u00ed dysautonomi\u00ed.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong><strong><strong><strong><strong><strong><strong>K \u010demu je u\u017eite\u010dn\u00e9 zn\u00e1t tuto predispozici?<\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Vzhledem k tomu, \u017ee <strong>famili\u00e1rn\u00ed dysautonomie je v\u00fdlu\u010dn\u011b geneticky podm\u00edn\u011bn\u00e9 onemocn\u011bn\u00ed<\/strong>, strava, \u017eivotn\u00ed styl ani pravideln\u00e1 sportovn\u00ed aktivita nemaj\u00ed vliv na rozvoj \u010di prevenci tohoto onemocn\u011bn\u00ed. V\u011bdom\u00ed t\u00e9to predispozice v\u00e1m m\u016f\u017ee pomoci p\u0159i pl\u00e1nov\u00e1n\u00ed rodiny. Z\u00e1rove\u0148 umo\u017e\u0148uje zlep\u0161it kvalitu \u017eivota a zm\u00edrnit komplikace zp\u016fsoben\u00e9 t\u00edmto onemocn\u011bn\u00edm.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong><strong><strong><strong>Nov\u00fd v\u00fdsledek <strong>ve va\u0161\u00ed DNA anal\u00fdze<\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/app.dnaera.com\/sign-in?&amp;lng=cz\">P\u0159ihlaste se<\/a> ke sv\u00fdm v\u00fdsledk\u016fm. Nov\u00e1 funkce je od nyn\u011bj\u0161ka zdarma k dispozici pro v\u0161echny na\u0161e st\u00e1vaj\u00edc\u00ed z\u00e1kazn\u00edky. Z\u00e1rove\u0148 ji bude m\u00edt ve sv\u00e9 anal\u00fdze ka\u017ed\u00fd budouc\u00ed z\u00e1kazn\u00edk, kter\u00fd vstoup\u00ed do sv\u011bta DNA s <a href=\"https:\/\/dnaera.com\/cs\/produkt\/dna-complex-test\/\" target=\"_blank\" rel=\"noreferrer noopener\">DNA Complex testem<\/a>. Poznejte i vy sv\u00e9 predispozice.<br><\/p>\n\n\n\n<h2 class=\"wp-block-heading has-medium-font-size\"><strong><strong>Zdroje<\/strong><\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list has-small-font-size\">\n<li class=\"has-small-font-size\"><a href=\"https:\/\/www.omim.org\/entry\/223900\">https:\/\/www.omim.org\/entry\/223900<\/a>\u00a0<\/li>\n\n\n\n<li><a href=\"https:\/\/familialdysautonomia.org\/about\/facts\">https:\/\/familialdysautonomia.org\/about\/facts<\/a>\u00a0<\/li>\n\n\n\n<li><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/familial-dysautonomia\/\">https:\/\/medlineplus.gov\/genetics\/condition\/familial-dysautonomia\/<\/a>\u00a0<\/li>\n\n\n\n<li class=\"has-small-font-size\">Gonz\u00e1lez-Duarte, A., Cotrina-Vidal, M., Kaufmann, H., &amp; Norcliffe-Kaufmann, L. (2023). Familial dysautonomia.\u00a0<em>Clinical autonomic research : official journal of the Clinical Autonomic Research Society<\/em>,\u00a0<em>33<\/em>(3), 269\u2013280.<\/li>\n\n\n\n<li class=\"has-small-font-size\">Tonholo-Silva, E. R., Takahashi, S. I., &amp; Yoshinaga, L. (1994). Familial dysautonomia (Riley-Day syndrome).\u00a0<em>Arquivos de neuro-psiquiatria<\/em>,\u00a0<em>52<\/em>(1), 103\u2013105.<\/li>\n\n\n\n<li class=\"has-small-font-size\"><a href=\"https:\/\/my.clevelandclinic.org\/health\/diseases\/24220-familial-dysautonomia\">https:\/\/my.clevelandclinic.org\/health\/diseases\/24220-familial-dysautonomia<\/a>\u00a0<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n","protected":false},"excerpt":{"rendered":"<p>P\u0159edstavte si, \u017ee va\u0161e t\u011blo nedok\u00e1\u017ee spr\u00e1vn\u011b regulovat d\u00fdch\u00e1n\u00ed, krevn\u00ed tlak, tr\u00e1ven\u00ed ani tvorbu slz. A kdy\u017e se uhod\u00edte nebo pop\u00e1l\u00edte, bolest t\u00e9m\u011b\u0159 nec\u00edt\u00edte. Funkce, kter\u00e9 v\u011bt\u0161ina z n\u00e1s pova\u017euje za samoz\u0159ejm\u00e9 a v\u016fbec si je neuv\u011bdomuje, \u0159\u00edd\u00ed autonomn\u00ed nervov\u00fd syst\u00e9m. Pr\u00e1v\u011b jeho fungov\u00e1n\u00ed je u famili\u00e1rn\u00ed dysautonomie v\u00e1\u017en\u011b naru\u0161eno. Famili\u00e1rn\u00ed dysautonomie, zn\u00e1m\u00e1 tak\u00e9 jako [&hellip;]<\/p>\n","protected":false},"author":876,"featured_media":1384242,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"content-type":"","inline_featured_image":false,"footnotes":"[]"},"categories":[33],"tags":[58,59,100],"place-taxonomy":[84],"class_list":["post-1384241","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-cs","tag-dna-analyza","tag-dna-test","tag-predispozice"],"acf":[],"views":2742,"_links":{"self":[{"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/posts\/1384241","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/users\/876"}],"replies":[{"embeddable":true,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/comments?post=1384241"}],"version-history":[{"count":1,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/posts\/1384241\/revisions"}],"predecessor-version":[{"id":1384243,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/posts\/1384241\/revisions\/1384243"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/media\/1384242"}],"wp:attachment":[{"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/media?parent=1384241"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/categories?post=1384241"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/tags?post=1384241"},{"taxonomy":"place-taxonomy","embeddable":true,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/place-taxonomy?post=1384241"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}