{"id":1402521,"date":"2024-04-19T13:00:04","date_gmt":"2024-04-19T11:00:04","guid":{"rendered":"https:\/\/dnaera.com\/hu\/?p=1402521"},"modified":"2024-06-16T13:55:00","modified_gmt":"2024-06-16T11:55:00","slug":"neurofibromatoza","status":"publish","type":"post","link":"https:\/\/dnaera.com\/hu\/blog\/neurofibromatoza\/","title":{"rendered":"Genetick\u00e1 odysea: V\u00a0stop\u00e1ch Quasimoda a\u00a0Slonieho mu\u017ea ku spoznaniu neurofibromat\u00f3zy"},"content":{"rendered":"\n

Azda ka\u017ed\u00fd z n\u00e1s pozn\u00e1 Quasimoda zo zn\u00e1meho rom\u00e1nu ,,Zvon\u00e1r u Matky Bo\u017eej\u201c od spisovate\u013ea Victora Huga. Spolu so ,,Slon\u00edm mu\u017eom\u201c Josephom Merrickom ide o dva z mnoh\u00fdch zn\u00e1mych pr\u00edkladov formuj\u00facich popul\u00e1rne a \u010dasto myln\u00e9 predstavy v s\u00favislosti s t\u00fdmto ochoren\u00edm. Dlh\u00e9 desa\u0165ro\u010dia si toti\u017e \u013eudia mysleli, \u017ee obe tieto postavy trpeli pr\u00e1ve t\u00fdmto ochoren\u00edm. A\u017e v roku 1882 Frederick Daniel von Recklinghausen rozl\u00faskol jeho genetick\u00fa podstatu a polo\u017eil z\u00e1klady pre \u010fal\u0161\u00ed v\u00fdskum a lep\u0161ie porozumenie tomuto ochoreniu. <\/em><\/em><\/p>\n\n\n\n

Neurofibromat\u00f3za je dedi\u010dn\u00e9 ochorenie vyzna\u010duj\u00face sa tvorbou n\u00e1dorov formuj\u00facich sa z nervov\u00e9ho tkaniva. V\u00e4\u010d\u0161inou s\u00fa tieto n\u00e1dory ben\u00edgne (nezhubn\u00e9), av\u0161ak niekedy m\u00f4\u017ee by\u0165 mal\u00edgne (zhubn\u00e9) a metast\u00e1zova\u0165. V z\u00e1vislosti od mutovan\u00e9ho g\u00e9nu a klinick\u00fdch pr\u00edznakov rozli\u0161ujeme 2 typy tohto ochorenia, a to neurofibromat\u00f3zu typu 1 (NF1) a neurofibromat\u00f3zu typu 2 (NF2).<\/p>\n\n\n\n

Nie v\u017edy za \u0148u m\u00f4\u017eu na\u0161i predkovia<\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n

Neurofibromat\u00f3za typu 1, rovnako ako neurofibromat\u00f3za typu 2, sa dedia autozom\u00e1lne dominantne, \u010do znamen\u00e1, \u017ee na rozvoj ochorenia sta\u010d\u00ed pr\u00edtomnos\u0165 mut\u00e1cie v jednej z dvoch verzi\u00ed dan\u00e9ho g\u00e9nu. V pr\u00edpade, \u017ee t\u00fdmto dedi\u010dn\u00fdm ochoren\u00edm trp\u00ed jeden z rodi\u010dov, riziko, \u017ee ochorenie postihne aj ich die\u0165a, je 50 %. Pr\u00e1ve neurofibromat\u00f3za typu 1 predstavuje naj\u010dastej\u0161\u00ed typ neurofibromat\u00f3zy zapr\u00ed\u010dinen\u00fd mut\u00e1ciou v g\u00e9ne NF1 k\u00f3duj\u00facom prote\u00edn neurofibrom\u00edn. Zauj\u00edmavos\u0165ou je, \u017ee g\u00e9n NF1 lokalizovan\u00fd na 17. chromoz\u00f3me patr\u00ed medzi najdlh\u0161ie g\u00e9ny \u013eudsk\u00e9ho gen\u00f3mu, pravdepodobne v\u010faka \u010domu m\u00f4\u017ee \u010dastej\u0161ie doch\u00e1dza\u0165 k vzniku nov\u00fdch spont\u00e1nnych mut\u00e1ci\u00ed e\u0161te pred po\u010dat\u00edm v pohlavn\u00fdch bunk\u00e1ch. Pr\u00e1ve z tohto d\u00f4vodu, a\u017e polovicu pr\u00edpadov NF1 tvoria pacienti bez pozit\u00edvnej rodinnej anamn\u00e9zy, a teda mut\u00e1ciu nezdedili od jedn\u00e9ho z rodi\u010dov, ale vznikla u nich nanovo. <\/p>\n\n\n\n

Naopak, neurofibromat\u00f3za typu 2 je ove\u013ea zriedkavej\u0161ia forma neurofibromat\u00f3zy zapr\u00ed\u010dinen\u00e1 mut\u00e1ciou v g\u00e9ne NF2 lokalizovanom na 22. chromoz\u00f3me zodpovedn\u00e9ho za produkciu prote\u00ednu merl\u00edn. Rovnako ako u NF1, existuje 50 % pravdepodobnos\u0165 prenosu postihnut\u00e9ho g\u00e9nu z rodi\u010da na potomka a takmer 50 % pr\u00edpadov sa pripisuje novovzniknut\u00fdm mut\u00e1ci\u00e1m.<\/p>\n\n\n\n

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

Naj\u010dastej\u0161\u00edm prejavom neurofibromat\u00f3zy typu 1 s\u00fa mnohopo\u010detn\u00e9 n\u00e1dory nervov a ko\u017ee, tzv. neurofibr\u00f3my, ako aj oblasti so svetlohnedou farbou ko\u017ee (tzv. caf\u00e9-au-lait). Tak\u00e9to abnormality pigment\u00e1cie ko\u017ee sa \u010dasto vyskytuj\u00fa pri naroden\u00ed alebo v prv\u00fdch rokoch \u017eivota die\u0165a\u0165a, pri\u010dom maj\u00fa tendenciu narasta\u0165 vo svojej ve\u013ekosti a v po\u010dte po\u010das detstva. Okrem u\u017e spom\u00ednan\u00fdch pr\u00edznakov m\u00f4\u017eeme pozorova\u0165 taktie\u017e skoli\u00f3zu, zv\u00fd\u0161en\u00fd krvn\u00fd tlak, \u010di pr\u00edtomnos\u0165 n\u00e1doru zrakov\u00e9ho nervu.<\/p>\n\n\n\n

Hoci sa pri NF1 vyskytuj\u00fa n\u00e1dory \u010dastej\u0161ie na povrchu tela a nervov\u00fdch tkaniv\u00e1ch, neurofibromat\u00f3za typu 2 sa prejavuje najm\u00e4 n\u00e1dormi na nervoch, ktor\u00e9 ovplyv\u0148uj\u00fa sluch a rovnov\u00e1hu. Pri tomto type ochorenia m\u00f4\u017eeme pozorova\u0165 zvonenie v u\u0161iach, slab\u00fa rovnov\u00e1hu, bolesti hlavy, \u010di epileptick\u00e9 z\u00e1chvaty. Navy\u0161e n\u00e1dory na sluchov\u00fdch nervoch m\u00f4\u017eu sp\u00f4sobi\u0165 postupn\u00fa stratu sluchu. Vo v\u0161eobecnosti sa klinick\u00e9 prejavy objavuj\u00fa po\u010das neskor\u00e9ho dospievania a ranej dospelosti, pri\u010dom ide o vz\u00e1cnej\u0161iu formu s hor\u0161ou progn\u00f3zou ako pri NF1.<\/p>\n\n\n\n

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

Vzh\u013eadom na to, \u017ee neurofibromat\u00f3za je v\u00fdlu\u010dne geneticky podmienen\u00e9 ochorenie, faktory prostredia a \u017eivotn\u00fd \u0161t\u00fdl nemaj\u00fa vplyv na v\u00fdvoj tohto ochorenia. Pozna\u0165 svoju predispoz\u00edciu pre rozvoj tohto ochorenia m\u00e1 zmysel z nieko\u013ek\u00fdch d\u00f4vodov:<\/p>\n\n\n\n

    \n
  1. Prevencia a monitorovanie \u2013 poznanie genetickej predispoz\u00edcie pre rozvoj neurofibromat\u00f3zy umo\u017e\u0148uje lek\u00e1rom identifikova\u0165 pr\u00edznaky a za\u010da\u0165 s monitorovan\u00edm zdravotn\u00e9ho stavu ove\u013ea sk\u00f4r. Hoci sa tento typ ochorenia ned\u00e1 \u00faplne vylie\u010di\u0165, pr\u00edznaky sa vhodnou lie\u010dbou daj\u00fa zmierni\u0165 a t\u00fdm sa d\u00e1 zlep\u0161i\u0165 kvalita \u017eivota pacienta.<\/li>\n<\/ol>\n\n\n\n
      \n
    1. Riziko pre potomstvo –  poznanie svojej genetickej predispoz\u00edcie umo\u017e\u0148uje vyhodnoti\u0165 rizik\u00e1 prenosu tohto ochorenia na potomstvo. Navy\u0161e, t\u00e1to inform\u00e1cia m\u00f4\u017ee by\u0165 d\u00f4le\u017eit\u00e1 aj pre t\u00fdch, ktor\u00ed nemaj\u00fa rodinn\u00fa hist\u00f3riu ochorenia, preto\u017ee neurofibromat\u00f3za \u010dasto vznik\u00e1 spont\u00e1nne, bez predch\u00e1dzaj\u00faceho v\u00fdskytu v rodine. <\/li>\n<\/ol>\n\n\n\n

      Nov\u00e1 predispoz\u00edcia u\u017e vo va\u0161ej anal\u00fdze<\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/h2>\n\n\n\n

      V\u00fdsledok aj spolu s \u010fal\u0161\u00edmi inform\u00e1ciami t\u00fdkaj\u00facimi sa neurofibromat\u00f3zy je odteraz zadarmo dostupn\u00fd pre v\u0161etk\u00fdch na\u0161ich z\u00e1kazn\u00edkov. Prihl\u00e1ste sa do svojho \u00fa\u010dtu a dodr\u017eiavajte z\u00e1kladn\u00e9 prevent\u00edvne opatrenia. Nov\u00fd v\u00fdsledok z\u00edskaj\u00fa aj v\u0161etci bud\u00faci z\u00e1kazn\u00edci, ktor\u00ed si objednaj\u00fa DNA Complex test<\/a>, DNA Health test<\/a> alebo si roz\u0161\u00edria v\u00fdsledky o kateg\u00f3riu Onkol\u00f3gia.<\/p>\n\n\n\n

      Zdroje<\/strong>: <\/p>\n\n\n\n

        \n
      1. Ruggieri, M., Pratic\u00f2, A. D., Caltabiano, R., & Polizzi, A. (2018). Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: first descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes. American Journal of Medical Genetics Part A<\/em>, 176<\/em>(3), 515-550.<\/li>\n\n\n\n
      2. Morse R. P. (1999). Neurofibromatosis type 1. Archives of neurology<\/em>, 56<\/em>(3), 364\u2013365. https:\/\/doi.org\/10.1001\/archneur.56.3.364<\/a><\/li>\n\n\n\n
      3. Farschtschi, S., Mautner, V. F., McLean, A. C. L., Schulz, A., Friedrich, R. E., & Rosahl, S. K. (2020). The Neurofibromatoses. Deutsches Arzteblatt international<\/em>, 117<\/em>(20), 354\u2013360. https:\/\/doi.org\/10.3238\/arztebl.2020.0354<\/a><\/li>\n\n\n\n
      4. Friedman, J. M. (1993). Neurofibromatosis 1 synonyms: NF1, von recklinghausen disease, von recklinghausen’s neurofibromatosis. GeneReviews\u00ae. University of Washington, Seattle, 2021.<\/li>\n\n\n\n
      5. Kresak, J. L., & Walsh, M. (2016). Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis. Journal of pediatric genetics, 5(2), 98\u2013104. https:\/\/doi.org\/10.1055\/s-0036-1579766<\/li>\n\n\n\n
      6. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1201\/<\/a><\/strong><\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"

        Azda ka\u017ed\u00fd z n\u00e1s pozn\u00e1 Quasimoda zo zn\u00e1meho rom\u00e1nu ,,Zvon\u00e1r u Matky Bo\u017eej\u201c od spisovate\u013ea Victora Huga. Spolu so ,,Slon\u00edm mu\u017eom\u201c Josephom Merrickom ide o dva z mnoh\u00fdch zn\u00e1mych pr\u00edkladov formuj\u00facich popul\u00e1rne a \u010dasto myln\u00e9 predstavy v s\u00favislosti s t\u00fdmto ochoren\u00edm. Dlh\u00e9 desa\u0165ro\u010dia si toti\u017e \u013eudia mysleli, \u017ee obe tieto postavy trpeli pr\u00e1ve t\u00fdmto ochoren\u00edm. A\u017e v roku 1882 Frederick Daniel von Recklinghausen […]<\/p>\n","protected":false},"author":869,"featured_media":0,"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-1402521","post","type-post","status-publish","format-standard","hentry","category-uncategorized-sk","tag-dna-analyza","tag-dna-test","tag-predispozicia","tag-zaujimavosti","tag-zdravie"],"acf":[],"views":1647,"yoast_head":"\nGenetick\u00e1 odysea: V\u00a0stop\u00e1ch Quasimoda a\u00a0Slonieho mu\u017ea ku spoznaniu neurofibromat\u00f3zy - DNA ERA HU<\/title>\n<meta name=\"description\" content=\"Neurofibromat\u00f3za je dedi\u010dn\u00e9 ochorenie vyzna\u010duj\u00face sa tvorbou n\u00e1dorov formuj\u00facich sa z\u00a0nervov\u00e9ho tkaniva. V\u00e4\u010d\u0161inou s\u00fa tieto n\u00e1dory ben\u00edgne (nezhubn\u00e9), av\u0161ak niekedy m\u00f4\u017ee by\u0165 mal\u00edgne (zhubn\u00e9) a\u00a0metast\u00e1zova\u0165. V\u00a0z\u00e1vislosti od mutovan\u00e9ho g\u00e9nu a\u00a0klinick\u00fdch pr\u00edznakov rozli\u0161ujeme 2 typy tohto ochorenia, a\u00a0to neurofibromat\u00f3zu typu 1 (NF1) a\u00a0neurofibromat\u00f3zu typu 2 (NF2).\" \/>\n<meta name=\"robots\" content=\"noindex, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<meta property=\"og:locale\" content=\"hu_HU\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Neurofibromat\u00f3za\" \/>\n<meta property=\"og:description\" content=\"Genetick\u00e1 odysea: V\u00a0stop\u00e1ch Quasimoda a\u00a0Slonieho mu\u017ea ku spoznaniu neurofibromat\u00f3zy\" \/>\n<meta property=\"og:url\" content=\"https:\/\/dnaera.com\/hu\/blog\/neurofibromatoza\/\" \/>\n<meta property=\"og:site_name\" content=\"DNA ERA HU\" \/>\n<meta property=\"article:published_time\" content=\"2024-04-19T11:00:04+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2024-06-16T11:55:00+00:00\" \/>\n<meta name=\"author\" content=\"filipjakubovie\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Szerz\u0151:\" \/>\n\t<meta name=\"twitter:data1\" content=\"filipjakubovie\" \/>\n\t<meta name=\"twitter:label2\" content=\"Becs\u00fclt olvas\u00e1si id\u0151\" \/>\n\t<meta name=\"twitter:data2\" content=\"5 perc\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/dnaera.com\\\/hu\\\/blog\\\/neurofibromatoza\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/dnaera.com\\\/hu\\\/blog\\\/neurofibromatoza\\\/\"},\"author\":{\"name\":\"filipjakubovie\",\"@id\":\"https:\\\/\\\/dnaera.com\\\/hu\\\/#\\\/schema\\\/person\\\/2ccfc4fabdb15105d6234432c5cfa85e\"},\"headline\":\"Genetick\u00e1 odysea: V\u00a0stop\u00e1ch Quasimoda a\u00a0Slonieho mu\u017ea ku spoznaniu neurofibromat\u00f3zy\",\"datePublished\":\"2024-04-19T11:00:04+00:00\",\"dateModified\":\"2024-06-16T11:55:00+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/dnaera.com\\\/hu\\\/blog\\\/neurofibromatoza\\\/\"},\"wordCount\":1058,\"publisher\":{\"@id\":\"https:\\\/\\\/dnaera.com\\\/hu\\\/#organization\"},\"keywords\":[\"DNA anal\u00fdza\",\"DNA test\",\"predispozicia\",\"zauj\u00edmavosti\",\"zdravie\"],\"articleSection\":[\"Uncategorized @sk\"],\"inLanguage\":\"hu\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/dnaera.com\\\/hu\\\/blog\\\/neurofibromatoza\\\/\",\"url\":\"https:\\\/\\\/dnaera.com\\\/hu\\\/blog\\\/neurofibromatoza\\\/\",\"name\":\"Genetick\u00e1 odysea: V\u00a0stop\u00e1ch Quasimoda a\u00a0Slonieho mu\u017ea ku spoznaniu neurofibromat\u00f3zy - DNA ERA HU\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/dnaera.com\\\/hu\\\/#website\"},\"datePublished\":\"2024-04-19T11:00:04+00:00\",\"dateModified\":\"2024-06-16T11:55:00+00:00\",\"description\":\"Neurofibromat\u00f3za je dedi\u010dn\u00e9 ochorenie vyzna\u010duj\u00face sa tvorbou n\u00e1dorov formuj\u00facich sa z\u00a0nervov\u00e9ho tkaniva. 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