{"id":1380815,"date":"2024-09-17T15:21:25","date_gmt":"2024-09-17T13:21:25","guid":{"rendered":"https:\/\/dnaera.mnt.webikon.sk\/cs\/?p=1380815"},"modified":"2025-02-19T09:52:25","modified_gmt":"2025-02-19T08:52:25","slug":"ehlers-danlosuv-syndrom","status":"publish","type":"post","link":"https:\/\/dnaera.mnt.webikon.sk\/cs\/blog\/ehlers-danlosuv-syndrom\/","title":{"rendered":"Ehlers-Danlos\u016fv syndrom: Onemocn\u011bn\u00ed ovliv\u0148uj\u00edc\u00ed pojivov\u00e9 tk\u00e1n\u011b"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\"><em>Ned\u00e1vno jsme v\u00e1m p\u0159edstavili Marfan\u016fv syndrom, kter\u00fd dlouh\u00fdmi prsty, vysokou postavou a oslaben\u00fdmi c\u00e9vami m\u016f\u017ee ohrozit \u017eivotn\u011b d\u016fle\u017eit\u00e9 org\u00e1ny. Dnes v\u00e1m chceme p\u0159edstavit dal\u0161\u00ed poruchu pojivov\u00e9 tk\u00e1n\u011b \u2013 Ehlers-Danlos\u016fv syndrom (EDS). A\u010dkoli tato dv\u011b onemocn\u011bn\u00ed maj\u00ed n\u011bkter\u00e9 spole\u010dn\u00e9 projevy, jedn\u00e1 se o dva odli\u0161n\u00e9 syndromy zp\u016fsoben\u00e9 r\u016fzn\u00fdmi genetick\u00fdmi mutacemi.<\/em><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Ehlers-Danlos\u016fv syndrom je skupina d\u011bdi\u010dn\u00fdch poruch zp\u016fsoben\u00e1 r\u016fzn\u00fdmi genetick\u00fdmi defekty jedn\u00e9 z hlavn\u00edch slo\u017eek pojivov\u00e9 tk\u00e1n\u011b \u2013 kolagenu. V z\u00e1vislosti na mutovan\u00e9m genu nebo klinick\u00fdch p\u0159\u00edznac\u00edch existuje n\u011bkolik podtyp\u016f, p\u0159i\u010dem\u017e my se zam\u011b\u0159\u00edme na vaskul\u00e1rn\u00ed (c\u00e9vn\u00ed) a artrochalasick\u00fd (oslabuj\u00edc\u00ed klouby) typ.<\/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\">Z genetick\u00e9ho hlediska se oba typy Ehlers-Danlosova syndromu d\u011bd\u00ed autozom\u00e1ln\u011b dominantn\u00edm zp\u016fsobem. To znamen\u00e1, \u017ee pokud m\u00e1 jeden z rodi\u010d\u016f toto onemocn\u011bn\u00ed, je 50% pravd\u011bpodobnost, \u017ee jej zd\u011bd\u00ed i jejich d\u00edt\u011b. U vaskul\u00e1rn\u00edho typu v\u0161ak existuje i 50% riziko, \u017ee se d\u00edt\u011b s Ehlers-Danlosov\u00fdm syndromem m\u016f\u017ee narodit zdrav\u00fdm rodi\u010d\u016fm v d\u016fsledku spont\u00e1nn\u00ed mutace, kter\u00e1 nastane je\u0161t\u011b p\u0159ed po\u010det\u00edm ve spermi\u00edch nebo vaj\u00ed\u010dk\u00e1ch.<\/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\">Ehlers-Danlos\u016fv syndrom se obecn\u011b vyzna\u010duje nadm\u011brnou elasticitou k\u016f\u017ee, hypermobilitou kloub\u016f a zv\u00fd\u0161enou k\u0159ehkost\u00ed tk\u00e1n\u00ed. Vaskul\u00e1rn\u00ed typ p\u0159edstavuje v\u00e1\u017en\u00e9 riziko pro c\u00e9vn\u00ed syst\u00e9m, kde k\u0159ehk\u00e9 c\u00e9vy mohou snadno prasknout, co\u017e vede k \u017eivot ohro\u017euj\u00edc\u00edmu krv\u00e1cen\u00ed a roztr\u017een\u00ed \u017eivotn\u011b d\u016fle\u017eit\u00fdch org\u00e1n\u016f, jako jsou st\u0159eva nebo d\u011bloha. Tento typ je tak\u00e9 spojen s tenkou, pr\u016fsvitnou poko\u017ekou, p\u0159es kterou jsou viditeln\u00e9 c\u00e9vy, a v\u00fdrazn\u00fdmi rysy obli\u010deje, jako je \u00fazk\u00fd nos a tenk\u00e9 rty. Artrochalasick\u00fd typ se projevuje t\u011b\u017ekou hypermobilitou kloub\u016f, svalovou slabost\u00ed a vrozenou oboustrannou dislokac\u00ed ky\u010deln\u00edch kloub\u016f. Pacienti mohou trp\u011bt deformacemi nohou, nadm\u011brnou elasticitou k\u016f\u017ee a jsou n\u00e1chyln\u00ed k tvorb\u011b mod\u0159in a jizev. Tyto p\u0159\u00edznaky mohou v\u00fdrazn\u011b ovlivnit kvalitu \u017eivota a vy\u017eaduj\u00ed specializovanou p\u00e9\u010di.<\/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\">Vzhledem k tomu, \u017ee Ehlers-Danlos\u016fv syndrom je v\u00fdhradn\u011b geneticky podm\u00edn\u011bn\u00e9 onemocn\u011bn\u00ed, strava, \u017eivotn\u00ed styl ani pravideln\u00e1 sportovn\u00ed aktivita nemaj\u00ed vliv na rozvoj tohoto onemocn\u011bn\u00ed. Proto m\u016f\u017ee b\u00fdt znalost predispozice pro rozvoj tohoto onemocn\u011bn\u00ed kl\u00ed\u010dov\u00e1 pro p\u0159edch\u00e1zen\u00ed v\u00e1\u017en\u00fdm komplikac\u00edm. L\u00e9ka\u0159i mohou pacient\u016fm doporu\u010dit, aby se vyhnuli fyzick\u00fdm aktivit\u00e1m, kter\u00e9 by mohly zv\u00fd\u0161it riziko po\u0161kozen\u00ed c\u00e9v a kloub\u016f. V\u010dasn\u00e1 informovanost umo\u017e\u0148uje p\u0159izp\u016fsobit \u017eivotn\u00ed styl a zah\u00e1jit specializovanou l\u00e9\u010dbu, kter\u00e1 pom\u00e1h\u00e1 minimalizovat zdravotn\u00ed rizika a p\u0159edch\u00e1zet dlouhodob\u00fdm n\u00e1sledk\u016fm spojen\u00fdm s t\u00edmto onemocn\u011bn\u00edm.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img fetchpriority=\"high\" decoding=\"async\" width=\"1024\" height=\"427\" src=\"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-content\/uploads\/sites\/3\/2024\/09\/Frame-19308-1024x427.png\" alt=\"\" class=\"wp-image-1380874\" srcset=\"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-content\/uploads\/sites\/3\/2024\/09\/Frame-19308-1024x427.png 1024w, https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-content\/uploads\/sites\/3\/2024\/09\/Frame-19308-300x125.png 300w, https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-content\/uploads\/sites\/3\/2024\/09\/Frame-19308-768x320.png 768w, https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-content\/uploads\/sites\/3\/2024\/09\/Frame-19308-1536x640.png 1536w, https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-content\/uploads\/sites\/3\/2024\/09\/Frame-19308-2048x854.png 2048w, https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-content\/uploads\/sites\/3\/2024\/09\/Frame-19308-600x250.png 600w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/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>. Genetick\u00e1 predispozice pro rozvoj Ehlers-Danlosova syndromu 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=\"wp-block-list has-small-font-size\">\n<li>Ritelli, M., &amp; Colombi, M. (2020). Molecular genetics and pathogenesis of Ehlers\u2013Danlos syndrome and related connective tissue disorders. Genes, 11(5), 547<\/li>\n\n\n\n<li>Meester, J. A., Verstraeten, A., Schepers, D., Alaerts, M., Van Laer, L., &amp; Loeys, B. L. (2017). Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Annals of cardiothoracic surgery, 6(6), 582.<\/li>\n\n\n\n<li>Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., &#8230; &amp; Tinkle, B. (2017, March). The 2017 international classification of the Ehlers\u2013Danlos syndromes. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 175, No. 1, pp. 8-26<\/li>\n\n\n\n<li>Mart\u00edn-Mart\u00edn, M., Cort\u00e9s-Mart\u00edn, J., Tovar-G\u00e1lvez, M. I., S\u00e1nchez-Garc\u00eda, J. C., D\u00edaz-Rodr\u00edguez, L., &amp; Rodr\u00edguez-Blanque, R. (2022). Ehlers\u2013Danlos Syndrome Type Arthrochalasia: A Systematic Review. International Journal of Environmental Research and Public Health, 19(3), 1870.<\/li>\n\n\n\n<li>Byers, P. H. (2019). Vascular ehlers-danlos syndrome.<\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/286?name=COL3A1&amp;mode=gene\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.orpha.net\/en\/disease\/detail\/286?name=COL3A1&amp;mode=gene<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/1899#:~:text=A%20form%20of%20Ehlers%2DDanlos,hyperextensible%20and%2For%20fragile%20skin\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.orpha.net\/en\/disease\/detail\/1899#:~:text=A%20form%20of%20Ehlers%2DDanlos,hyperextensible%20and%2For%20fragile%20skin<\/a>.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Ned\u00e1vno jsme v\u00e1m p\u0159edstavili Marfan\u016fv syndrom, kter\u00fd dlouh\u00fdmi prsty, vysokou postavou a oslaben\u00fdmi c\u00e9vami m\u016f\u017ee ohrozit \u017eivotn\u011b d\u016fle\u017eit\u00e9 org\u00e1ny. Dnes v\u00e1m chceme p\u0159edstavit dal\u0161\u00ed poruchu pojivov\u00e9 tk\u00e1n\u011b \u2013 Ehlers-Danlos\u016fv syndrom (EDS). A\u010dkoli tato dv\u011b onemocn\u011bn\u00ed maj\u00ed n\u011bkter\u00e9 spole\u010dn\u00e9 projevy, jedn\u00e1 se o dva odli\u0161n\u00e9 syndromy zp\u016fsoben\u00e9 r\u016fzn\u00fdmi genetick\u00fdmi mutacemi. Ehlers-Danlos\u016fv syndrom je skupina d\u011bdi\u010dn\u00fdch poruch [&hellip;]<\/p>\n","protected":false},"author":869,"featured_media":1382219,"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":[58,59,100,101],"place-taxonomy":[],"class_list":["post-1380815","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-sk","tag-dna-analyza","tag-dna-test","tag-predispozice","tag-zdravi"],"acf":[],"views":2284,"_links":{"self":[{"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/posts\/1380815","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=1380815"}],"version-history":[{"count":4,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/posts\/1380815\/revisions"}],"predecessor-version":[{"id":1380893,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/posts\/1380815\/revisions\/1380893"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/media\/1382219"}],"wp:attachment":[{"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/media?parent=1380815"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/categories?post=1380815"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/tags?post=1380815"},{"taxonomy":"place-taxonomy","embeddable":true,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/place-taxonomy?post=1380815"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}