{"id":1384343,"date":"2026-10-19T10:34:32","date_gmt":"2026-10-19T08:34:32","guid":{"rendered":"https:\/\/dnaera.com\/cs\/?p=1384343"},"modified":"2026-10-19T10:34:33","modified_gmt":"2026-10-19T08:34:33","slug":"zellwegeruv-syndrom","status":"publish","type":"post","link":"https:\/\/dnaera.com\/cs\/blog\/zellwegeruv-syndrom\/","title":{"rendered":"Mal\u00e9 bun\u011b\u010dn\u00e9 struktury, velk\u00e9 d\u016fsledky: p\u0159\u00edb\u011bh Zellwegerova syndromu"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\"><em>P\u0159edstavte si m\u011bsto, ve kter\u00e9m najednou p\u0159estanou fungovat v\u0161echny sb\u011brn\u00e9 dvory a zpracovatelsk\u00e9 linky. Odpad se hromad\u00ed na ulic\u00edch, nic se nerecykluje a postupn\u011b to za\u010dne ohro\u017eovat cel\u00e9 m\u011bsto. P\u0159esn\u011b to se d\u011bje v bu\u0148k\u00e1ch lid\u00ed s poruchami Zellwegerova spektra &#8211; chyb\u00ed jim drobn\u00e9 bun\u011b\u010dn\u00e9 struktury zvan\u00e9 peroxizomy, kter\u00e9 se staraj\u00ed o odbour\u00e1v\u00e1n\u00ed a recyklaci l\u00e1tek v t\u011ble.<\/em><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Poruchy Zellwegerova spektra p\u0159edstavuj\u00ed skupinu velmi vz\u00e1cn\u00fdch d\u011bdi\u010dn\u00fdch onemocn\u011bn\u00ed, kter\u00e1 postihuj\u00ed mozek, j\u00e1tra, ledviny, zrak i sluch. Odhaduje se, \u017ee <strong>se vyskytuj\u00ed p\u0159ibli\u017en\u011b u 1 z 50 000 novorozenc\u016f<\/strong>. Nejzn\u00e1m\u011bj\u0161\u00ed a nejz\u00e1va\u017en\u011bj\u0161\u00ed forma nese jm\u00e9no \u0161v\u00fdcarsko-americk\u00e9ho pediatra Hanse Zellwegera.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">P\u0159\u00ed\u010dinou je po\u0161kozen\u00ed n\u011bkter\u00e9ho z takzvan\u00fdch <strong>PEX gen\u016f<\/strong>. Ty obsahuj\u00ed n\u00e1vod na tvorbu b\u00edlkovin, kter\u00e9 peroxizomy buduj\u00ed a z\u00e1sobuj\u00ed pot\u0159ebn\u00fdmi enzymy. Pokud jeden z nich nefunguje, peroxizomy se nevytvo\u0159\u00ed nebo z\u016fstanou pr\u00e1zdn\u00e9. V t\u011ble se pak hromad\u00ed nap\u0159\u00edklad mastn\u00e9 kyseliny s velmi dlouh\u00fdm \u0159et\u011bzcem a chyb\u00ed l\u00e1tky pot\u0159ebn\u00e9 pro tvorbu nervov\u00fdch obal\u016f.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Z\u00e1va\u017enost onemocn\u011bn\u00ed se v\u00fdrazn\u011b li\u0161\u00ed. U nejt\u011b\u017e\u0161\u00ed formy se p\u0159\u00edznaky objev\u00ed ihned po narozen\u00ed a d\u011bti se zpravidla nedo\u017eij\u00ed prvn\u00edho roku \u017eivota. U m\u00edrn\u011bj\u0161\u00edch forem se onemocn\u011bn\u00ed projev\u00ed pozd\u011bji v d\u011btstv\u00ed a n\u011bkdy a\u017e v dosp\u011blosti.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>P\u0159\u00edznaky onemocn\u011bn\u00ed:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Nervov\u00fd syst\u00e9m: <\/strong>v\u00fdrazn\u00e9 oslaben\u00ed svalstva, z\u00e1chvaty a opo\u017ed\u011bn\u00fd psychomotorick\u00fd v\u00fdvoj.<\/li>\n\n\n\n<li><strong>P\u0159\u00edjem potravy a r\u016fst: <\/strong>pot\u00ed\u017ee s pit\u00edm a p\u0159\u00edjmem potravy, slab\u00fd p\u0159\u00edr\u016fstek hmotnosti.<\/li>\n\n\n\n<li><strong>J\u00e1tra: <\/strong>zv\u011bt\u0161en\u00ed a porucha funkce jater.<\/li>\n\n\n\n<li><strong>Ledviny:<\/strong> tvorba cyst.<\/li>\n\n\n\n<li><strong>Zrak:<\/strong> po\u0161kozen\u00ed s\u00edtnice a postupn\u00e9 zhor\u0161ov\u00e1n\u00ed zraku.<\/li>\n\n\n\n<li><strong>Sluch: <\/strong>ztr\u00e1ta sluchu, kter\u00e1 u m\u00edrn\u011bj\u0161\u00edch forem postupuje v pr\u016fb\u011bhu let.<\/li>\n\n\n\n<li><strong>Obli\u010dej:<\/strong> typick\u00e9 rysy, nap\u0159\u00edklad vysok\u00e9 \u010delo, \u0161iroce rozlo\u017een\u00e9 o\u010di a ploch\u00fd ko\u0159en nosu.<\/li>\n\n\n\n<li><strong>Zuby:<\/strong> u m\u00edrn\u011bj\u0161\u00edch forem porucha tvorby zubn\u00ed skloviny.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>U koho se onemocn\u011bn\u00ed projevuje?<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Poruchy ze spektra Zellwegerova syndromu se d\u011bd\u00ed autozom\u00e1ln\u011b recesivn\u011b. <strong>Onemocn\u011bn\u00ed se projev\u00ed pouze v p\u0159\u00edpad\u011b, \u017ee d\u00edt\u011b zd\u011bd\u00ed po\u0161kozenou kopii stejn\u00e9ho genu PEX od obou rodi\u010d\u016f.<\/strong> Pokud zd\u011bd\u00ed mutaci pouze od jednoho z nich, bude zdrav\u00fdm nositelem; 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 mutace ve stejn\u00e9m genu, existuje p\u0159i ka\u017ed\u00e9m t\u011bhotenstv\u00ed 25% pravd\u011bpodobnost, \u017ee se narod\u00ed d\u00edt\u011b s t\u00edmto onemocn\u011bn\u00edm.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><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><\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Poruchy Zellwegerova spektra jsou v\u00fdlu\u010dn\u011b geneticky podm\u00edn\u011bn\u00e9, proto strava, \u017eivotn\u00ed styl ani pravideln\u00e1 sportovn\u00ed aktivita nemaj\u00ed na jejich vznik \u017e\u00e1dn\u00fd vliv. Nositel\u00e9 jsou zdrav\u00ed a nemaj\u00ed \u017e\u00e1dn\u00e9 p\u0159\u00edznaky. V\u011bdom\u00ed toho, \u017ee jste nositelem, v\u00e1m v\u0161ak m\u016f\u017ee pomoci p\u0159i pl\u00e1nov\u00e1n\u00ed rodiny \u2013 zejm\u00e9na pokud by nositelem byl i v\u00e1\u0161 partner. Tato informace je u\u017eite\u010dn\u00e1 tak\u00e9 pro va\u0161e bl\u00edzk\u00e9 p\u0159\u00edbuzn\u00e9, u nich\u017e je vy\u0161\u0161\u00ed pravd\u011bpodobnost, \u017ee jsou nositeli stejn\u00e9 mutace.<\/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. Tato nov\u00e1 vlastnost je od nyn\u011bj\u0161ka zdarma k dispozici v\u0161em na\u0161im st\u00e1vaj\u00edc\u00edm z\u00e1kazn\u00edk\u016fm. 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 sv\u00e9 predispozice i vy.<\/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\">\n<li class=\"has-small-font-size\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1448\/\">https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1448\/<\/a><\/li>\n\n\n\n<li class=\"has-small-font-size\"><a href=\"https:\/\/omim.org\/entry\/214100\">https:\/\/omim.org\/entry\/214100<\/a><\/li>\n\n\n\n<li class=\"has-small-font-size\">Braverman, N. E., Raymond, G. V., Rizzo, W. B., Moser, A. B., Wilkinson, M. E., Stone, E. M., &#8230; &amp; Bose, M. (2016). Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. <em>Molecular Genetics and Metabolism<\/em>, 117(3), 313\u2013321.<\/li>\n\n\n\n<li class=\"has-small-font-size\">Klouwer, F. C., Berendse, K., Ferdinandusse, S., Wanders, R. J., Engelen, M., &amp; Poll-The, B. T. (2015). Zellweger spectrum disorders: clinical overview and management approach. <em>Orphanet Journal of Rare Diseases<\/em>, 10, 151.<\/li>\n\n\n\n<li class=\"has-small-font-size\">Bose, M., Yergeau, C., D&#8217;Souza, Y., Cuthbertson, D. D., Lopez, M. J., Smolen, A. K., &amp; Braverman, N. E. (2022). Characterization of severity in Zellweger spectrum disorder by clinical findings: a scoping review, meta-analysis and medical chart review. <em>Cells<\/em>, 11(12), 1891.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>P\u0159edstavte si m\u011bsto, ve kter\u00e9m najednou p\u0159estanou fungovat v\u0161echny sb\u011brn\u00e9 dvory a zpracovatelsk\u00e9 linky. Odpad se hromad\u00ed na ulic\u00edch, nic se nerecykluje a postupn\u011b to za\u010dne ohro\u017eovat cel\u00e9 m\u011bsto. P\u0159esn\u011b to se d\u011bje v bu\u0148k\u00e1ch lid\u00ed s poruchami Zellwegerova spektra &#8211; chyb\u00ed jim drobn\u00e9 bun\u011b\u010dn\u00e9 struktury zvan\u00e9 peroxizomy, kter\u00e9 se staraj\u00ed o odbour\u00e1v\u00e1n\u00ed a recyklaci [&hellip;]<\/p>\n","protected":false},"author":876,"featured_media":1384344,"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-1384343","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-cs","tag-dna-analyza","tag-dna-test","tag-predispozice"],"acf":[],"views":2779,"_links":{"self":[{"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/posts\/1384343","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=1384343"}],"version-history":[{"count":1,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/posts\/1384343\/revisions"}],"predecessor-version":[{"id":1384345,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/posts\/1384343\/revisions\/1384345"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/media\/1384344"}],"wp:attachment":[{"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/media?parent=1384343"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/categories?post=1384343"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/tags?post=1384343"},{"taxonomy":"place-taxonomy","embeddable":true,"href":"https:\/\/dnaera.com\/cs\/wp-json\/wp\/v2\/place-taxonomy?post=1384343"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}