{"id":1380376,"date":"2024-06-13T14:39:05","date_gmt":"2024-06-13T12:39:05","guid":{"rendered":"https:\/\/dnaera.mnt.webikon.sk\/cs\/?p=1380376"},"modified":"2025-02-19T09:54:07","modified_gmt":"2025-02-19T08:54:07","slug":"marfanuv-syndrom-nepritel-s-elegantni-postavou","status":"publish","type":"post","link":"https:\/\/dnaera.mnt.webikon.sk\/cs\/blog\/marfanuv-syndrom-nepritel-s-elegantni-postavou\/","title":{"rendered":"Marfan\u016fv syndrom: Nep\u0159\u00edtel s elegantn\u00ed postavou"},"content":{"rendered":"\n

Kdy\u017e si p\u0159edstav\u00edme \u010dlov\u011bka s vysokou a \u0161t\u00edhlou postavou zdob\u00edc\u00edho ob\u00e1lku presti\u017en\u00edho m\u00f3dn\u00edho \u010dasopisu, \u010dasto takov\u00e1 osoba vytv\u00e1\u0159\u00ed dojem elegance a zdrav\u00e9 vitality. Za t\u011bmito fyzick\u00fdmi rysy se v\u0161ak u n\u011bkter\u00fdch lid\u00ed m\u016f\u017ee skr\u00fdvat z\u00e1hadn\u00fd nep\u0159\u00edtel – Marfan\u016fv syndrom. Toto geneticky podm\u00edn\u011bn\u00e9 onemocn\u011bn\u00ed je jako jemn\u00e1 pavu\u010dinka, kter\u00e1 propl\u00e9t\u00e1 cel\u00e9 t\u011blo, p\u0159i\u010dem\u017e spojuje eleganci s k\u0159ehkost\u00ed a \u010dasto bez viditeln\u00fdch varov\u00e1n\u00ed ohro\u017euje \u017eivot.<\/em><\/p>\n\n\n\n

Marfan\u016fv syndrom v d\u016fsledku poruchy v genu FBN1 postihuje pojivou tk\u00e1\u0148, kter\u00e1 tvo\u0159\u00ed z\u00e1kladn\u00ed strukturu t\u011bla, p\u0159i\u010dem\u017e poskytuje pru\u017enost a podporu org\u00e1n\u016fm a tk\u00e1n\u00edm. V d\u016fsledku p\u0159\u00edtomnosti mutace v tomto genu mohou b\u00fdt pojivov\u00e9 tk\u00e1n\u011b oslaben\u00e9, co\u017e m\u016f\u017ee v\u00e9st k r\u016fzn\u00fdm zdravotn\u00edm probl\u00e9m\u016fm. V\u00fdskyt tohoto onemocn\u011bn\u00ed se odhaduje na 1 z 5000 – 10 000 jedinc\u016f bez ohledu na pohlav\u00ed.<\/p>\n\n\n\n

GENETICK\u00c9 POZAD\u00cd<\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n

Z hlediska genetiky se Marfan\u016fv syndrom d\u011bd\u00ed autozom\u00e1ln\u011b dominantn\u00edm zp\u016fsobem. Znamen\u00e1 to, \u017ee pokud jeden z rodi\u010d\u016f trp\u00ed t\u00edmto onemocn\u011bn\u00edm, existuje 50 % pravd\u011bpodobnost, \u017ee j\u00edm bude posti\u017eeno i jeho d\u00edt\u011b. Krom\u011b mo\u017enosti p\u0159enosu tohoto onemocn\u011bn\u00ed z rodi\u010de na potomka existuje 25 % \u0161ance, \u017ee se zdrav\u00fdm rodi\u010d\u016fm narod\u00ed d\u00edt\u011b s Marfanov\u00fdm syndromem, a to v d\u016fsledku vzniku spont\u00e1nn\u00ed mutace je\u0161t\u011b p\u0159ed po\u010det\u00edm ve spermi\u00edch nebo vaj\u00ed\u010dk\u00e1ch.<\/p>\n\n\n\n

KLINICK\u00c9 P\u0158\u00cdZNAKY<\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n

U ka\u017ed\u00e9ho posti\u017een\u00e9ho jedince se Marfan\u016fv syndrom projevuje r\u016fzn\u00fdmi zp\u016fsoby a v jak\u00e9mkoliv v\u011bku. Pojivov\u00e9 tk\u00e1n\u011b pln\u00ed svou neodmyslitelnou roli v cel\u00e9m t\u011ble a kdy\u017e jsou oslaben\u00e9, projevuje se to \u0161irok\u00fdm spektrem symptom\u016f a zdravotn\u00edch komplikac\u00ed. Klinick\u00e9 p\u0159\u00edznaky se proto mohou li\u0161it i mezi v\u00edce posti\u017een\u00fdmi jedinci v r\u00e1mci jedn\u00e9 rodiny. Mezi ty nejz\u00e1va\u017en\u011bj\u0161\u00ed a \u017eivot ohro\u017euj\u00edc\u00ed probl\u00e9my pat\u0159\u00ed roz\u0161\u00ed\u0159en\u00ed a n\u00e1sledn\u00e9 roztr\u017een\u00ed aorty. D\u00e1le m\u016f\u017ee doch\u00e1zet k nepravideln\u00e9mu srde\u010dn\u00edmu rytmu \u010di ke vzniku aneurysmatu. Marfan\u016fv syndrom v\u00fdrazn\u011b ovliv\u0148uje i svalov\u011b-kostern\u00ed syst\u00e9m, p\u0159i\u010dem\u017e pro lidi s t\u00edmto onemocn\u011bn\u00edm je typick\u00e1 vysok\u00e1 \u0161t\u00edhl\u00e1 postava s dlouh\u00fdmi kon\u010detinami a prsty. Posti\u017een\u00fd m\u016f\u017ee b\u00fdt i zrakov\u00fd syst\u00e9m, pl\u00edce a k\u016f\u017ee.<\/p>\n\n\n\n

PRO\u010c JE DOBR\u00c9 ZN\u00c1T TUTO PREDISPOZICI?<\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n

Vzhledem k tomu, \u017ee Marfan\u016fv syndrom je v\u00fdlu\u010dn\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. Z tohoto d\u016fvodu m\u016f\u017ee b\u00fdt kl\u00ed\u010dov\u00e9 zn\u00e1t predispozici pro rozvoj Marfanova syndromu k p\u0159edch\u00e1zen\u00ed v\u00e1\u017en\u00fdm komplikac\u00edm. Pravideln\u00e9 kontroly u specialist\u016f mohou odhalit zdravotn\u00ed probl\u00e9my v po\u010d\u00e1te\u010dn\u00edm st\u00e1diu, monitorovat zdravotn\u00ed stav a p\u0159\u00edpadn\u011b za\u010d\u00edt se symptomatickou l\u00e9\u010dbou mnohem d\u0159\u00edve. Pokroky v medic\u00edn\u011b v sou\u010dasnosti umo\u017e\u0148uj\u00ed pacient\u016fm s Marfanov\u00fdm syndromem v\u00e9st plnohodnotn\u00fd \u017eivot s p\u0159edpokl\u00e1danou d\u00e9lkou \u017eivota dosahuj\u00edc\u00ed \u00farove\u0148 p\u0159e\u017e\u00edv\u00e1n\u00ed b\u011b\u017en\u00e9 populace. Pozornost je nutn\u00e9 v\u011bnovat i t\u011bhotn\u00fdm pacientk\u00e1m s Marfanov\u00fdm syndromem, a to z d\u016fvodu rizika roztr\u017een\u00ed aorty a ohro\u017een\u00ed sv\u00e9ho \u017eivota a tak\u00e9 \u017eivota plodu.<\/p>\n\n\n\n

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

Nov\u00fd v\u00fdsledek anal\u00fdzy<\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n

P\u0159ihlaste se do sv\u00fdch v\u00fdsledk\u016f<\/a>. Genetick\u00e1 predispozice pro rozvoj Marfanova syndromu je odte\u010f 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 DNA Complex testem<\/a> nebo DNA Health testem<\/a>. Poznejte sv\u00e9 predispozice i vy.<\/p>\n\n\n\n

Zdroje<\/strong><\/strong><\/h2>\n\n\n\n
    \n
  • Pollock, L., Ridout, A., Teh, J., Nnadi, C., Stavroulias, D., Pitcher, A., … & Vincent, T. L. (2021). The musculoskeletal manifestations of Marfan syndrome: diagnosis, impact, and management. Current Rheumatology Reports<\/em>, 23<\/em>(11), 81.<\/li>\n\n\n\n
  • Salik, I., & Rawla, P. (2019). Marfan syndrome.<\/li>\n\n\n\n
  • Dietz, H. (2022). FBN1-related Marfan syndrome.<\/li>\n\n\n\n
  • Loeys, B. L., Dietz, H. C., Braverman, A. C., Callewaert, B. L., De Backer, J., Devereux, R. B., … & De Paepe, A. M. (2010). The revised Ghent nosology for the Marfan syndrome. Journal of medical genetics, 47(7), 476-485.<\/li>\n\n\n\n
  • Goland, S., & Elkayam, U. (2017). Pregnancy and Marfan syndrome. Annals of cardiothoracic surgery, 6(6), 642.<\/li>\n\n\n\n
  • von Kodolitsch, Y., Rybczynski, M., Vogler, M., Mir, T. S., Sch\u00fcler, H., Kutsche, K., … & Pyeritz, R. E. (2016). The role of the multidisciplinary health care team in the management of patients with Marfan syndrome. Journal of multidisciplinary healthcare, 587-614.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"

    Kdy\u017e si p\u0159edstav\u00edme \u010dlov\u011bka s vysokou a \u0161t\u00edhlou postavou zdob\u00edc\u00edho ob\u00e1lku presti\u017en\u00edho m\u00f3dn\u00edho \u010dasopisu, \u010dasto takov\u00e1 osoba vytv\u00e1\u0159\u00ed dojem elegance a zdrav\u00e9 vitality. Za t\u011bmito fyzick\u00fdmi rysy se v\u0161ak u n\u011bkter\u00fdch lid\u00ed m\u016f\u017ee skr\u00fdvat z\u00e1hadn\u00fd nep\u0159\u00edtel – Marfan\u016fv syndrom. Toto geneticky podm\u00edn\u011bn\u00e9 onemocn\u011bn\u00ed je jako jemn\u00e1 pavu\u010dinka, kter\u00e1 propl\u00e9t\u00e1 cel\u00e9 t\u011blo, p\u0159i\u010dem\u017e spojuje eleganci s […]<\/p>\n","protected":false},"author":869,"featured_media":1382220,"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-1380376","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-sk","tag-dna-analyza","tag-dna-test"],"acf":[],"views":2025,"_links":{"self":[{"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/posts\/1380376","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=1380376"}],"version-history":[{"count":2,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/posts\/1380376\/revisions"}],"predecessor-version":[{"id":1380380,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/posts\/1380376\/revisions\/1380380"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/media\/1382220"}],"wp:attachment":[{"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/media?parent=1380376"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/categories?post=1380376"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/tags?post=1380376"},{"taxonomy":"place-taxonomy","embeddable":true,"href":"https:\/\/dnaera.mnt.webikon.sk\/cs\/wp-json\/wp\/v2\/place-taxonomy?post=1380376"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}