{"id":1405651,"date":"2024-09-17T15:21:44","date_gmt":"2024-09-17T13:21:44","guid":{"rendered":"https:\/\/dnaera.com\/ro\/?p=1405651"},"modified":"2025-02-19T09:52:26","modified_gmt":"2025-02-19T08:52:26","slug":"ehlers-danlosov-syndrom","status":"publish","type":"post","link":"https:\/\/dnaera.com\/ro\/blog\/ehlers-danlosov-syndrom\/","title":{"rendered":"Ehlers-Danlosov syndr\u00f3m: Ochorenie ovplyv\u0148uj\u00face spojivov\u00e9 tkaniv\u00e1"},"content":{"rendered":"\n

Ned\u00e1vno sme v\u00e1m predstavili Marfanov syndr\u00f3m, ktor\u00fd svojimi dlho\u010dizn\u00fdmi prstami, vysokou postavou a oslaben\u00fdmi cievami, m\u00f4\u017ee ohrozi\u0165 \u017eivotne d\u00f4le\u017eit\u00e9 org\u00e1ny. Dnes v\u00e1m chceme predstavi\u0165 \u010fal\u0161iu poruchu spojivov\u00e9ho tkaniva \u2013 Ehlers-Danlosov syndr\u00f3m (EDS). Hoci tieto dve ochorenia maj\u00fa spolo\u010dn\u00e9 niektor\u00e9 prejavy, ide o dva odli\u0161n\u00e9 syndr\u00f3my sp\u00f4soben\u00e9 r\u00f4znymi genetick\u00fdmi mut\u00e1ciami.<\/em><\/em>

Ehlers-Danlosov syndr\u00f3m je skupina dedi\u010dn\u00fdch por\u00fach zapr\u00ed\u010dinen\u00e1 r\u00f4znymi genetick\u00fdmi defektmi jednej z hlavn\u00fdch zlo\u017eiek spojivov\u00e9ho tkaniva – kolag\u00e9nu. V z\u00e1vislosti od mutovan\u00e9ho g\u00e9nu alebo klinick\u00fdch pr\u00edznakov, pozn\u00e1me nieko\u013eko podtypov, pri\u010dom my sa moment\u00e1lne zameriame na vaskul\u00e1rny (cievny) a artrochalasick\u00fd (oslabuj\u00faci k\u013aby) typ.<\/p>\n\n\n\n

GENETICK\u00c9 POZADIE<\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n

Z h\u013eadiska genetiky sa obidva typy Ehlers-Danlosovho syndr\u00f3mu dedia autozom\u00e1lne dominantn\u00fdm sp\u00f4sobom. To znamen\u00e1, \u017ee ak jeden z rodi\u010dov m\u00e1 toto ochorenie, je 50 % pravdepodobnos\u0165, \u017ee ho zded\u00ed aj ich die\u0165a. V pr\u00edpade vaskul\u00e1rneho typu v\u0161ak existuje aj 50 % riziko, \u017ee sa die\u0165a s Ehlers-Danlosov\u00fdm syndr\u00f3mom m\u00f4\u017ee narodi\u0165 zdrav\u00fdm rodi\u010dom, a to v d\u00f4sledku spont\u00e1nnej mut\u00e1cie, ktor\u00e1 nastane e\u0161te pred po\u010dat\u00edm v spermi\u00e1ch alebo vaj\u00ed\u010dkach.<\/p>\n\n\n\n

KLINICK\u00c9 PR\u00cdZNAKY<\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n

Ehlers-Danlosov syndr\u00f3m sa vo v\u0161eobecnosti vyzna\u010duje nadmernou elasticitou ko\u017ee, hypermobilitou k\u013abov a zv\u00fd\u0161enou krehkos\u0165ou tkan\u00edv. Vaskul\u00e1rny typ predstavuje v\u00e1\u017ene riziko pre cievny syst\u00e9m, kde krehk\u00e9 cievy m\u00f4\u017eu \u013eahko praskn\u00fa\u0165, \u010do vedie k \u017eivot ohrozuj\u00facim krv\u00e1caniam a natrhnutiam \u017eivotne d\u00f4le\u017eit\u00fdch org\u00e1nov, ako s\u00fa \u010drev\u00e1 alebo maternica. Tento typ je tie\u017e spojen\u00fd s tenkou, priesvitnou poko\u017ekou, cez ktor\u00fa s\u00fa vidite\u013en\u00e9 cievy, \u010di v\u00fdrazn\u00fdmi \u010drtami tv\u00e1re, ako s\u00fa \u00fazky nos a tenk\u00e9 pery. Artrochalasick\u00fd typ sa prejavuje \u0165a\u017ekou hypermobilitou k\u013abov, svalovou slabos\u0165ou a vrodenou obojstrannou dislok\u00e1ciou bedrov\u00fdch k\u013abov. Pacienti m\u00f4\u017eu trpie\u0165 deform\u00e1ciami chodidiel, nadmernou elasticitou ko\u017ee a s\u00fa n\u00e1chyln\u00ed na tvorbu \u013eahk\u00fdch modr\u00edn a jaziev. Tieto pr\u00edznaky m\u00f4\u017eu v\u00fdrazne ovplyvni\u0165 kvalitu \u017eivota a vy\u017eaduj\u00fa \u0161pecializovan\u00fa starostlivos\u0165.<\/p>\n\n\n\n

PRE\u010cO JE DOBR\u00c9 POZNA\u0164 T\u00daTO PREDISPOZ\u00cdCIU?<\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n

Vzh\u013eadom na to, \u017ee Ehlers-Danlosov syndr\u00f3m je v\u00fdlu\u010dne geneticky podmienen\u00e9 ochorenie, strava, \u017eivotn\u00fd \u0161t\u00fdl ani pravideln\u00e1 \u0161portov\u00e1 aktivita, nemaj\u00fa vplyv na rozvoj tohto ochorenia. Z tohto d\u00f4vodu poznanie predispoz\u00edcie pre rozvoj tohto ochorenia m\u00f4\u017ee by\u0165 k\u013e\u00fa\u010dov\u00e9 pre predch\u00e1dzanie v\u00e1\u017enym komplik\u00e1ci\u00e1m. Lek\u00e1ri m\u00f4\u017eu pacientom odporu\u010di\u0165 vyhn\u00fa\u0165 sa fyzick\u00fdm aktivit\u00e1m, ktor\u00e9 by mohli zv\u00fd\u0161i\u0165 riziko po\u0161kodenia ciev a k\u013abov. V\u010dasn\u00e1 informovanos\u0165 umo\u017e\u0148uje prisp\u00f4sobi\u0165 \u017eivotn\u00fd \u0161t\u00fdl a zah\u00e1ji\u0165 \u0161pecializovan\u00fa lie\u010dbu, ktor\u00e1 pom\u00e1ha minimalizova\u0165 zdravotn\u00e9 rizik\u00e1 a predch\u00e1dza\u0165 dlhodob\u00fdm n\u00e1sledkom spojen\u00fdm s t\u00fdmto ochoren\u00edm.<\/p>\n\n\n\n

\"Spoznajte<\/figure>\n\n\n\n

NOV\u00dd V\u00ddSLEDOK ANAL\u00ddZY<\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n

Prihl\u00e1ste sa do svojich v\u00fdsledkov.<\/a> Genetick\u00e1 predispoz\u00edcia pre rozvoj Ehlers-Danlosovho syndr\u00f3mu je odteraz zadarmo dostupn\u00e1 pre v\u0161etk\u00fdch na\u0161ich z\u00e1kazn\u00edkov. Z\u00e1rove\u0148 ju bude ma\u0165 vo svojej anal\u00fdze ka\u017ed\u00fd bud\u00faci z\u00e1kazn\u00edk, ktor\u00fd vst\u00fapi do sveta DNA s DNA Complex testom<\/a> alebo DNA Health testom<\/a>. Spoznajte svoje predispoz\u00edcie aj vy.<\/p>\n\n\n\n

Zdroje<\/strong>: <\/p>\n\n\n\n

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  1. Ritelli, M., & 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
  2. Meester, J. A., Verstraeten, A., Schepers, D., Alaerts, M., Van Laer, L., & 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
  3. Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., … & 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
  4. 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., & 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
  5. Byers, P. H. (2019). Vascular ehlers-danlos syndrome.<\/li>\n\n\n\n
  6. https:\/\/www.orpha.net\/en\/disease\/detail\/286?name=COL3A1&mode=gene<\/a><\/li>\n\n\n\n
  7. https:\/\/www.orpha.net\/en\/disease\/detail\/1899#:~:text=A%20form%20of%20Ehlers%2DDanlos,hyperextensible%20and%2For%20fragile%20skin<\/a>.<\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"

    Ned\u00e1vno sme v\u00e1m predstavili Marfanov syndr\u00f3m, ktor\u00fd svojimi dlho\u010dizn\u00fdmi prstami, vysokou postavou a oslaben\u00fdmi cievami, m\u00f4\u017ee ohrozi\u0165 \u017eivotne d\u00f4le\u017eit\u00e9 org\u00e1ny. Dnes v\u00e1m chceme predstavi\u0165 \u010fal\u0161iu poruchu spojivov\u00e9ho tkaniva \u2013 Ehlers-Danlosov syndr\u00f3m (EDS). Hoci tieto dve ochorenia maj\u00fa spolo\u010dn\u00e9 niektor\u00e9 prejavy, ide o dva odli\u0161n\u00e9 syndr\u00f3my sp\u00f4soben\u00e9 r\u00f4znymi genetick\u00fdmi mut\u00e1ciami. Ehlers-Danlosov syndr\u00f3m je skupina dedi\u010dn\u00fdch por\u00fach […]<\/p>\n","protected":false},"author":869,"featured_media":1409389,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"content-type":"","inline_featured_image":false,"footnotes":""},"categories":[1],"tags":[58,59,111,63,30],"place-taxonomy":[],"class_list":["post-1405651","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-sk","tag-dna-analyza","tag-dna-test","tag-predispozicia","tag-zaujimavosti","tag-zdravie"],"acf":[],"views":3072,"_links":{"self":[{"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts\/1405651","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/users\/869"}],"replies":[{"embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/comments?post=1405651"}],"version-history":[{"count":4,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts\/1405651\/revisions"}],"predecessor-version":[{"id":1405721,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts\/1405651\/revisions\/1405721"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/media\/1409389"}],"wp:attachment":[{"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/media?parent=1405651"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/categories?post=1405651"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/tags?post=1405651"},{"taxonomy":"place-taxonomy","embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/place-taxonomy?post=1405651"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}