{"id":1403637,"date":"2024-06-13T14:38:54","date_gmt":"2024-06-13T12:38:54","guid":{"rendered":"https:\/\/dnaera.com\/ro\/?p=1403637"},"modified":"2025-02-19T09:54:02","modified_gmt":"2025-02-19T08:54:02","slug":"marfanov-syndrom-nepriatel-s-elegantnou-postavou","status":"publish","type":"post","link":"https:\/\/dnaera.com\/ro\/blog\/marfanov-syndrom-nepriatel-s-elegantnou-postavou\/","title":{"rendered":"Marfanov syndr\u00f3m: Nepriate\u013e s\u00a0elegantnou postavou\u00a0"},"content":{"rendered":"\n

Ke\u010f si predstav\u00edme \u010dloveka s\u00a0vysokou a \u0161t\u00edhlou postavou zdobiaceho ob\u00e1lku prest\u00ed\u017eneho m\u00f3dneho \u010dasopisu, \u010dasto tak\u00e1to osoba vytv\u00e1ra dojem elegancie a\u00a0zdravej vitality. Za tieto fyzick\u00e9 \u010drty sa v\u0161ak u\u00a0niektor\u00fdch \u013eud\u00ed m\u00f4\u017ee skr\u00fdva\u0165 z\u00e1hadn\u00fd nepriate\u013e – Marfanov syndr\u00f3m. Toto geneticky podmienen\u00e9 ochorenie je ako jemn\u00e1 pavu\u010dinka, ktor\u00e1 preplet\u00e1 cel\u00e9 telo, pri\u010dom sp\u00e1ja eleganciu s\u00a0krehkos\u0165ou a\u00a0\u010dasto bez vidite\u013en\u00fdch varovan\u00ed ohrozuje \u017eivot.\u00a0<\/em><\/em><\/p>\n\n\n\n

Marfanov syndr\u00f3m v\u00a0d\u00f4sledku poruchy v g\u00e9ne FBN1 postihuje spojivov\u00e9 tkanivo, ktor\u00e9 tvor\u00ed z\u00e1kladn\u00fa \u0161trukt\u00faru tela, pri\u010dom poskytuje pru\u017enos\u0165 a\u00a0podporu org\u00e1nom a\u00a0tkaniv\u00e1m. V\u00a0d\u00f4sledku pr\u00edtomnosti mut\u00e1cie v tomto g\u00e9ne m\u00f4\u017eu by\u0165 spojivov\u00e9 tkaniv\u00e1 oslaben\u00e9, \u010do m\u00f4\u017ee vies\u0165 k\u00a0r\u00f4znym zdravotn\u00fdm probl\u00e9mom. V\u00fdskyt tohto ochorenia sa odhaduje na 1 z\u00a05000 – 10\u00a0000 jedincov bez oh\u013eadu na pohlavie.<\/p>\n\n\n\n

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

Z\u00a0h\u013eadiska genetiky sa Marfanov syndr\u00f3m ded\u00ed autozom\u00e1lne dominantn\u00fdm sp\u00f4sobom. Znamen\u00e1 to, \u017ee ak jeden z\u00a0rodi\u010dov trp\u00ed t\u00fdmto ochoren\u00edm, existuje 50 % pravdepodobnos\u0165, \u017ee n\u00edm bude postihnut\u00e9 aj jeho die\u0165a. Okrem mo\u017enosti prenosu tohto ochorenia z\u00a0rodi\u010da na potomka existuje 25 % \u0161anca, \u017ee sa zdrav\u00fdm rodi\u010dom narod\u00ed die\u0165a s\u00a0Marfanov\u00fdm syndr\u00f3mom, a\u00a0to v\u00a0d\u00f4sledku vzniku spont\u00e1nnej mut\u00e1cie e\u0161te pred po\u010dat\u00edm v\u00a0spermi\u00e1ch alebo\u00a0vaj\u00ed\u010dkach.<\/p>\n\n\n\n

KLINICK\u00c9 PR\u00cdZNAKY\u00a0<\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n

U\u00a0ka\u017ed\u00e9ho postihnut\u00e9ho jedinca sa Marfanov syndr\u00f3m prejavuje r\u00f4znymi sp\u00f4sobmi a\u00a0v\u00a0ktoromko\u013evek veku. Spojivov\u00e9 tkaniv\u00e1 plnia svoju neodmyslite\u013en\u00fa \u00falohu v celom tele a\u00a0ke\u010f s\u00fa oslaben\u00e9, prejavuje sa to \u0161irok\u00fdm spektrom sympt\u00f3mov a\u00a0zdravotn\u00fdch komplik\u00e1ci\u00ed. Klinick\u00e9 pr\u00edznaky sa preto m\u00f4\u017eu l\u00ed\u0161i\u0165 aj medzi viacer\u00fdmi postihnut\u00fdmi jedincami v\u00a0r\u00e1mci jednej rodiny. Medzi tie najz\u00e1va\u017enej\u0161ie a\u00a0\u017eivot ohrozuj\u00face probl\u00e9my patr\u00ed roz\u0161\u00edrenie a\u00a0n\u00e1sledn\u00e9 roztrhnutie aorty. \u010ealej m\u00f4\u017ee doch\u00e1dza\u0165 k\u00a0nepravideln\u00e9mu srdcov\u00e9mu rytmu \u010di k\u00a0vzniku aneuryzmy. Marfanov syndr\u00f3m v\u00fdrazne ovplyv\u0148uje aj svalovo-kostrov\u00fd syst\u00e9m, pri\u010dom pre \u013eud\u00ed s\u00a0t\u00fdmto ochoren\u00edm je typick\u00e1 vysok\u00e1 \u0161t\u00edhla postava s\u00a0dlh\u00fdmi kon\u010datinami a\u00a0prstami. Postihnut\u00fd m\u00f4\u017ee by\u0165 aj zrakov\u00fd syst\u00e9m, p\u013e\u00faca a\u00a0ko\u017ea.\u00a0<\/p>\n\n\n\n

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

Vzh\u013eadom na to, \u017ee Marfanov 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\u00a0tohto d\u00f4vodu poznanie predispoz\u00edcie pre rozvoj Marfanovho syndr\u00f3mu m\u00f4\u017ee by\u0165 k\u013e\u00fa\u010dov\u00e9 pre predch\u00e1dzanie v\u00e1\u017enym komplik\u00e1ci\u00e1m. Pravideln\u00e9 kontroly u \u0161pecialistov m\u00f4\u017eu odhali\u0165 zdravotn\u00e9 probl\u00e9my v\u00a0po\u010diato\u010dnom \u0161t\u00e1diu, monitorova\u0165 zdravotn\u00fd stav a pr\u00edpadne za\u010da\u0165 so symptomatickou\u00a0lie\u010dbou ove\u013ea sk\u00f4r. Pokroky v\u00a0medic\u00edne v\u00a0s\u00fa\u010dasnosti umo\u017e\u0148uj\u00fa pacientom s\u00a0Marfanov\u00fdm syndr\u00f3mom vies\u0165 plnohodnotn\u00fd \u017eivot s\u00a0predpokladanou d\u013a\u017ekou \u017eivota dosahuj\u00facou \u00farove\u0148 pre\u017e\u00edvania be\u017enej popul\u00e1cie. Pozornos\u0165 je nutn\u00e9 venova\u0165 aj tehotn\u00fdm pacientk\u00e1m s\u00a0Marfanov\u00fdm syndr\u00f3mom, a to z\u00a0d\u00f4vodu rizika roztrhnutia aorty a\u00a0ohrozenia svojho \u017eivota a taktie\u017e \u017eivota plodu.<\/p>\n\n\n\n

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

Nov\u00fd v\u00fdsledok anal\u00fdzy<\/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 Marfanovho 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>:\u00a0<\/p>\n\n\n\n

    \n
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  2. Salik, I., & Rawla, P. (2019). Marfan syndrome.<\/li>\n\n\n\n
  3. Dietz, H. (2022). FBN1-related Marfan syndrome.<\/li>\n\n\n\n
  4. 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
  5. Goland, S., & Elkayam, U. (2017). Pregnancy and Marfan syndrome. Annals of cardiothoracic surgery, 6(6), 642.<\/li>\n\n\n\n
  6. 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<\/ol>\n","protected":false},"excerpt":{"rendered":"

    Ke\u010f si predstav\u00edme \u010dloveka s\u00a0vysokou a \u0161t\u00edhlou postavou zdobiaceho ob\u00e1lku prest\u00ed\u017eneho m\u00f3dneho \u010dasopisu, \u010dasto tak\u00e1to osoba vytv\u00e1ra dojem elegancie a\u00a0zdravej vitality. Za tieto fyzick\u00e9 \u010drty sa v\u0161ak u\u00a0niektor\u00fdch \u013eud\u00ed m\u00f4\u017ee skr\u00fdva\u0165 z\u00e1hadn\u00fd nepriate\u013e – Marfanov syndr\u00f3m. Toto geneticky podmienen\u00e9 ochorenie je ako jemn\u00e1 pavu\u010dinka, ktor\u00e1 preplet\u00e1 cel\u00e9 telo, pri\u010dom sp\u00e1ja eleganciu s\u00a0krehkos\u0165ou a\u00a0\u010dasto bez vidite\u013en\u00fdch […]<\/p>\n","protected":false},"author":869,"featured_media":1409390,"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-1403637","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":2350,"_links":{"self":[{"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts\/1403637","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=1403637"}],"version-history":[{"count":3,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts\/1403637\/revisions"}],"predecessor-version":[{"id":1403642,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts\/1403637\/revisions\/1403642"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/media\/1409390"}],"wp:attachment":[{"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/media?parent=1403637"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/categories?post=1403637"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/tags?post=1403637"},{"taxonomy":"place-taxonomy","embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/place-taxonomy?post=1403637"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}