{"id":1380493,"date":"2024-07-16T13:58:13","date_gmt":"2024-07-16T11:58:13","guid":{"rendered":"https:\/\/dnaera.mnt.webikon.sk\/cs\/?p=1380493"},"modified":"2024-09-17T15:22:52","modified_gmt":"2024-09-17T13:22:52","slug":"glykogenoza-typu-ib-jak-to-vypada-kdyz-bunka-ztrati-klic-k-energii","status":"publish","type":"post","link":"https:\/\/dnaera.mnt.webikon.sk\/cs\/blog\/glykogenoza-typu-ib-jak-to-vypada-kdyz-bunka-ztrati-klic-k-energii\/","title":{"rendered":"Glykogen\u00f3za typu Ib: Jak to vypad\u00e1, kdy\u017e bu\u0148ka ztrat\u00ed kl\u00ed\u010d k energii?"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\"><em>\u017div\u00e9 organismy vy\u017eaduj\u00ed neust\u00e1l\u00fd p\u0159\u00edsun energie pro podporu \u017eivotn\u011b d\u016fle\u017eit\u00fdch proces\u016f. V na\u0161em t\u011ble ji v\u011bt\u0161ina bun\u011bk z\u00edsk\u00e1v\u00e1 z gluk\u00f3zy, kter\u00e1 je z\u00e1kladn\u00edm palivem pro metabolismus. Gluk\u00f3za se v organismu ukl\u00e1d\u00e1 ve form\u011b glykogenu, kter\u00fd slou\u017e\u00ed jako z\u00e1sob\u00e1rna energie. Kdy\u017e t\u011blo pot\u0159ebuje energii, glykogen se rozkl\u00e1d\u00e1 na gluk\u00f3zu.<\/em><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Ale co kdy\u017e tento mechanismus nefunguje spr\u00e1vn\u011b? Co kdy\u017e bu\u0148ka ztrat\u00ed \u201ekl\u00ed\u010d\u201c ke spr\u00e1vn\u00e9mu zpracov\u00e1n\u00ed glykogenu a gluk\u00f3zy? Pr\u00e1v\u011b toto se d\u011bje p\u0159i glykogen\u00f3ze typu I, kter\u00e1 se na z\u00e1klad\u011b typu mutovan\u00e9ho genu d\u011bl\u00ed na glykogen\u00f3zu typu Ia a Ib.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Glykogen\u00f3za typu Ib je vz\u00e1cn\u00e9 d\u011bdi\u010dn\u00e9 onemocn\u011bn\u00ed zp\u016fsoben\u00e9 mutac\u00ed v genu SLC37A4, kter\u00fd k\u00f3duje gluk\u00f3za-6-fosf\u00e1t translok\u00e1zu, pot\u0159ebnou p\u0159i p\u0159em\u011bn\u011b glykogenu na gluk\u00f3zu. Kdy\u017e tento mechanismus nefunguje spr\u00e1vn\u011b, doch\u00e1z\u00ed k nadm\u011brn\u00e9mu hromad\u011bn\u00ed glykogenu a jin\u00fdch metabolick\u00fdch meziprodukt\u016f v r\u016fzn\u00fdch tk\u00e1n\u00edch, co\u017e zp\u016fsobuje charakteristick\u00e9 p\u0159\u00edznaky tohoto onemocn\u011bn\u00ed.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong><strong><strong><strong>GENETICK\u00c9 POZAD\u00cd<\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Standardn\u011b d\u011bd\u00edme jednu verzi genu od matky a jednu verzi genu od otce. Glykogen\u00f3za typu Ib se d\u011bd\u00ed autozom\u00e1ln\u011b recesivn\u00edm zp\u016fsobem, co\u017e znamen\u00e1, \u017ee toto onemocn\u011bn\u00ed se obvykle projev\u00ed jen tehdy, kdy\u017e \u010dlov\u011bk nese ob\u011b verze mutovan\u00e9ho genu ve sv\u00e9 DNA. Standardn\u011b \u010dlov\u011bk d\u011bd\u00ed tyto verze gen\u016f od sv\u00fdch rodi\u010d\u016f, av\u0161ak vz\u00e1cn\u011b se m\u016f\u017eeme setkat i se vznikem spont\u00e1nn\u00edch mutac\u00ed.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong><strong><strong><strong>KLINICK\u00c9 P\u0158\u00cdZNAKY<\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Glykogen\u00f3za typu Ib v\u00fdrazn\u011b ovliv\u0148uje \u017eivot jedince obvykle u\u017e od jeho ran\u00e9ho d\u011btstv\u00ed. Toto onemocn\u011bn\u00ed se vyzna\u010duje n\u011bkolika klinick\u00fdmi p\u0159\u00edznaky:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Hypoglyk\u00e9mie.<\/strong> K tomuto stavu doch\u00e1z\u00ed, kdy\u017e je hladina cukru v krvi n\u00edzk\u00e1, p\u0159i\u010dem\u017e m\u016f\u017ee doch\u00e1zet a\u017e k \u017eivot ohro\u017euj\u00edc\u00edm z\u00e1chvat\u016fm.<br><\/li>\n\n\n\n<li><strong>Zv\u011bt\u0161en\u00ed jater (hepatomegalie).<\/strong> Jakmile je mechanismus p\u0159em\u011bny glykogenu na gluk\u00f3zu po\u0161kozen, doch\u00e1z\u00ed k nadm\u011brn\u00e9mu hromad\u011bn\u00ed tohoto z\u00e1sobn\u00edho cukru v j\u00e1trech a n\u00e1sledn\u011b k jejich zv\u011bt\u0161en\u00ed.<br><\/li>\n\n\n\n<li><strong>Sn\u00ed\u017een\u00fd po\u010det neutrofil\u016f v krvi (neutropenie). <\/strong>Neutrofily jsou typem b\u00edl\u00fdch krvinek, kter\u00e9 jsou nezbytn\u00e9 pro boj proti infekc\u00edm. Pokud je jich m\u00e1lo, t\u011blo je v\u00edce n\u00e1chyln\u00e9 na r\u016fzn\u00e9 infekce, co\u017e m\u016f\u017ee v\u00e9st k \u010dast\u00fdm a z\u00e1va\u017en\u00fdm nemocem.<br><\/li>\n\n\n\n<li><strong>Poruchy r\u016fstu.<\/strong> Nav\u00edc, nel\u00e9\u010den\u00e9 d\u011bti \u010dasto zaost\u00e1vaj\u00ed v r\u016fstu, maj\u00ed tzv. \u201epanenkovsk\u00fd obli\u010dej\u201c s pln\u00fdmi tv\u00e1\u0159emi, relativn\u011b tenk\u00e9 kon\u010detiny a vy\u010dn\u00edvaj\u00edc\u00ed b\u0159icho v d\u016fsledku p\u0159\u00edtomnosti hepatomegalie.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Krom\u011b zm\u00edn\u011bn\u00fdch p\u0159\u00edznak\u016f se u pacient\u016f m\u016f\u017ee vyskytovat lakt\u00e1tov\u00e1 acid\u00f3za (hromad\u011bn\u00ed kyseliny ml\u00e9\u010dn\u00e9 v t\u011ble), zv\u011bt\u0161en\u00e9 ledviny (nefomegalie), \u010di z\u00e1n\u011btliv\u00e9 onemocn\u011bn\u00ed st\u0159ev.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong><strong><strong><strong>PRO\u010c JE DOBR\u00c9 ZN\u00c1T TUTO PREDISPOZICI?<\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Pokud je \u010dlov\u011bk nositelem, m\u00e1 jednu mutovanou verzi genu, co\u017e pravd\u011bpodobn\u011b neovliv\u0148uje jeho zdravotn\u00ed stav, ale m\u016f\u017ee m\u00edt vliv na jeho potomky. Pokud jsou oba rodi\u010de nositeli mutovan\u00e9ho genu, existuje 25 % \u0161ance, \u017ee jejich d\u00edt\u011b zd\u011bd\u00ed ob\u011b mutovan\u00e9 verze a glykogen\u00f3za typu Ib se u n\u011bj projev\u00ed. Znalost t\u00e9to predispozice v\u00e1m umo\u017e\u0148uje z\u00edskat cenn\u00e9 informace p\u0159i pl\u00e1nov\u00e1n\u00ed rodi\u010dovstv\u00ed a v p\u0159\u00edpad\u011b pot\u0159eby m\u016f\u017eete kontaktovat klinick\u00e9ho genetika a poradit se o dal\u0161\u00edch mo\u017enostech.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/app.dnaera.sk\/sign-in?&amp;lng=cz\"><img fetchpriority=\"high\" decoding=\"async\" width=\"1024\" height=\"536\" src=\"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-content\/uploads\/sites\/3\/2024\/07\/CZ-blog-GSD1b-1024x536.png\" alt=\"\" class=\"wp-image-1380494\" srcset=\"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-content\/uploads\/sites\/3\/2024\/07\/CZ-blog-GSD1b-1024x536.png 1024w, https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-content\/uploads\/sites\/3\/2024\/07\/CZ-blog-GSD1b-300x157.png 300w, https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-content\/uploads\/sites\/3\/2024\/07\/CZ-blog-GSD1b-768x402.png 768w, https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-content\/uploads\/sites\/3\/2024\/07\/CZ-blog-GSD1b-600x314.png 600w, https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-content\/uploads\/sites\/3\/2024\/07\/CZ-blog-GSD1b.png 1200w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/a><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong><strong><strong><strong>Nov\u00fd v\u00fdsledek anal\u00fdzy<\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/app.dnaera.sk\/sign-in?&amp;lng=cz\" target=\"_blank\" rel=\"noreferrer noopener\">P\u0159ihlaste se do sv\u00fdch v\u00fdsledk\u016f<\/a>. Nov\u00e1 predispozice je nyn\u00ed zdarma dostupn\u00e1 pro v\u0161echny na\u0161e 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.mnt.webikon.sk\/cs\/produkt\/dna-complex-test\/\" target=\"_blank\" rel=\"noreferrer noopener\">DNA Complex testem<\/a> nebo <a href=\"https:\/\/dnaera.mnt.webikon.sk\/cs\/produkt\/dna-health-test\/\" target=\"_blank\" rel=\"noreferrer noopener\">DNA Health 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=\"has-small-font-size wp-block-list\">\n<li>Bali, D. S., El-Gharbawy, A., Austin, S., Pendyal, S., &amp; Kishnani, P. S. (2021). Glycogen storage disease type I.<\/li>\n\n\n\n<li>Szyma\u0144ska, E., Lipi\u0144ski, P., Rokicki, D., Ksi\u0105\u017cyk, J., &amp; Tylki-Szyma\u0144ska, A. (2020). Over 20-Year follow-up of patients with hepatic glycogen Storage Diseases: single-center experience. Diagnostics, 10(5), 297.<\/li>\n\n\n\n<li>Kishnani, P. S., Austin, S. L., Abdenur, J. E., Arn, P., Bali, D. S., Boney, A., Chung, W. K., Dagli, A. I., Dale, D., Koeberl, D., Somers, M. J., Wechsler, S. B., Weinstein, D. A., Wolfsdorf, J. I., Watson, M. S., &amp; American College of Medical Genetics and Genomics (2014). Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genetics in medicine : official journal of the American College of Medical Genetics, 16(11), e1.<\/li>\n\n\n\n<li>Sim, S. W., Weinstein, D. A., Lee, Y. M., &amp; Jun, H. S. (2020). Glycogen storage disease type Ib: role of glucose\u20106\u2010phosphate transporter in cell metabolism and function. FEBS letters, 594(1), 3-18.<\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1312\/\">https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1312\/<\/a><\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>\u017div\u00e9 organismy vy\u017eaduj\u00ed neust\u00e1l\u00fd p\u0159\u00edsun energie pro podporu \u017eivotn\u011b d\u016fle\u017eit\u00fdch proces\u016f. V na\u0161em t\u011ble ji v\u011bt\u0161ina bun\u011bk z\u00edsk\u00e1v\u00e1 z gluk\u00f3zy, kter\u00e1 je z\u00e1kladn\u00edm palivem pro metabolismus. Gluk\u00f3za se v organismu ukl\u00e1d\u00e1 ve form\u011b glykogenu, kter\u00fd slou\u017e\u00ed jako z\u00e1sob\u00e1rna energie. Kdy\u017e t\u011blo pot\u0159ebuje energii, glykogen se rozkl\u00e1d\u00e1 na gluk\u00f3zu. Ale co kdy\u017e tento mechanismus nefunguje spr\u00e1vn\u011b? [&hellip;]<\/p>\n","protected":false},"author":869,"featured_media":1380495,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"content-type":"","inline_featured_image":false,"footnotes":""},"categories":[1],"tags":[58,59],"place-taxonomy":[],"class_list":["post-1380493","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-sk","tag-dna-analyza","tag-dna-test"],"acf":[],"views":1654,"_links":{"self":[{"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/posts\/1380493","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/users\/869"}],"replies":[{"embeddable":true,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/comments?post=1380493"}],"version-history":[{"count":2,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/posts\/1380493\/revisions"}],"predecessor-version":[{"id":1380517,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/posts\/1380493\/revisions\/1380517"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/media\/1380495"}],"wp:attachment":[{"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/media?parent=1380493"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/categories?post=1380493"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/tags?post=1380493"},{"taxonomy":"place-taxonomy","embeddable":true,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/place-taxonomy?post=1380493"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}