{"id":72912,"date":"2020-11-03T13:25:17","date_gmt":"2020-11-03T13:25:17","guid":{"rendered":"http:\/\/humanitasnet-new.local\/malattie\/nevrofibromatoza\/"},"modified":"2025-01-13T03:19:07","modified_gmt":"2025-01-13T03:19:07","slug":"nevrofibromatoza","status":"publish","type":"disease","link":"https:\/\/humanitas-net.humweb.webiz.team\/sl\/diseases\/nevrofibromatoza\/","title":{"rendered":"Nevrofibromatoza"},"content":{"rendered":"<p>Nevrofibromatoza je genetska motnja, ki moti rast celic v \u017eiv\u010dnem sistemu, zaradi \u010desar se tvorijo tumorji na \u017eiv\u010dnem tkivu. Tumorji se lahko razvijejo kjer koli v \u017eiv\u010dnem sistemu, vklju\u010dno z mo\u017egani, hrbtenja\u010do in \u017eivci. Nevrofibromatoza se obi\u010dajno diagnosticira v otro\u0161tvu ali zgodnji odrasli dobi.<\/p>\n<p>Tumorji so obi\u010dajno benigni, v nekaterih primerih pa lahko postanejo maligni ali rakavi. U\u010dinki nevrofibromatoze lahko vklju\u010dujejo izgubo sluha, okvaro sr\u010dne in krvne \u017eile, hudo invalidnost zaradi stiskanja \u017eivcev s tumorji, pa tudi izgubo vida in hude bole\u010dine.<\/p>\n<p>Namen zdravljenja nevrofibromatoze je maksimirati zdravo rast in razvoj ter lahko vklju\u010duje zdravila in operativne posege.<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"simptomi\">Simptomi<\/h2>\n<p>Obstajajo 3 razli\u010dne vrste nevrofibromatoze, pri \u010demer ima vsaka razli\u010dne simptome.<\/p>\n<p>&nbsp;<\/p>\n<ul>\n<li>Nevrofibromatoza 1 (NF1)<\/li>\n<li>Ploske, svetlo rjave pike na ko\u017ei<\/li>\n<li>Pege pod pazduho ali dimeljskem predelu<\/li>\n<li>Mehke izbokline na ali pod ko\u017eo (nevrofibromi)<\/li>\n<li>Drobne izbokline na \u0161arenici o\u010desa (Lischovi vozli\u010dki)<\/li>\n<li>Deformacije kosti<\/li>\n<li>Te\u017eave pri u\u010duenju<\/li>\n<li>Nenormalno velika velikost glave<\/li>\n<li>Nizka postava<\/li>\n<li><\/li>\n<\/ul>\n<p>Nevrofibromatoza 2 (NF2)<\/p>\n<p>Simptomi NF2 so ponavadi posledica tvorbe vestibularnih \u0161vanom (akusti\u010dni nevromi) v obeh u\u0161esih, ki vplivajo na informacije o zvoku in ravnote\u017eju.<\/p>\n<p>&nbsp;<\/p>\n<ul>\n<li>Postopna izguba sluha<\/li>\n<li>Zvonjenje v u\u0161esih<\/li>\n<li>Slabo ravnovesje<\/li>\n<li>Padanje obraza<\/li>\n<li>Vrtljivost in \u0161ibkost v rokah ali nogah<\/li>\n<li>Bole\u010dina<\/li>\n<li>Te\u017eave z vidom<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h2 id=\"svanomatoza\">\u0160vanomatoza<\/h2>\n<p>\u0160vanomatoza je redka oblika nevrofibromatoze, ki povzro\u010da nastanek bole\u010dih tumorjev na lobanjskih, hrbteni\u010dnih in obrobnih \u017eivcih, ne pa na \u017eivcu, ki prena\u0161a informacije o zvoku in ravnote\u017eju od notranjega u\u0161esa do mo\u017eganov. \u0160vanomatoza v glavnem povzro\u010da kroni\u010dne bole\u010dine, ki se lahko pojavijo kjerkoli v telesu.<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"vzroki\">Vzroki<\/h2>\n<p>Nevrofibromatozo povzro\u010dajo genetske okvare (mutacije). Vsako obliko nevrofibromatoze povzro\u010dajo mutacije v razli\u010dnih genih.<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"nevrofibromatoza-1\">Nevrofibromatoza 1<\/h2>\n<p>&nbsp;<\/p>\n<p>Gen NF1 se nahaja na kromosomu 17. Ta gen proizvaja protein, imenovan nevrofibromin, ki je bogat v tkivu \u017eiv\u010dnega sistema in pomaga uravnavati rast celic. Mutacija gena NF1 povzro\u010di izgubo tega proteina in tako omogo\u010da, da celice hitro rastejo.<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"nurofibromatoza-2\">Nurofibromatoza 2<\/h2>\n<p>&nbsp;<\/p>\n<p>Gen NF2 se nahaja na kromosomu 22 in proizvaja protein, imenovan merlin. Mutacija gena NF2 povzro\u010di izgubo merlina, kar povzro\u010di tudi nenadzorovano rast celic.<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"svanomatoza\">\u0160vanomatoza<\/h2>\n<p>&nbsp;<\/p>\n<p>\u0160vanomatoza je lahko povezana z mutacijo gena SMARCB1, ki se nahaja na kromosomu 22. \u0160vanomatoza je lahko podedovana ali sporadi\u010dna.<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"dejavniki-tveganja\">Dejavniki tveganja<\/h2>\n<p>Najve\u010dji dejavnik tveganja za nevrofibromatozo je dru\u017einska anamneza bolezni. Pribli\u017eno polovica primerov NF1 in NF2 se deduje. Preostali primeri so posledica spontanih mutacij, ki se pojavijo ob spo\u010detju.<\/p>\n<p>NF1 in NF2 sta avtosomno prevladujo\u010di motnji, kar pomeni, da lahko en star\u0161 motnjo prenese na otroka. Pomeni tudi, da ima vsak otrok 50-odstotno mo\u017enost za dedovanje genske mutacije.<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"zapleti\">Zapleti<\/h2>\n<p>Zapleti nevrofibromatoze so obi\u010dajno posledica rasti tumorja, ki izkrivlja \u017eiv\u010dno tkivo ali pritiska na notranje organe.<\/p>\n<p>&nbsp;<\/p>\n<p>Zapleti nevrofibromatoze 1 vklju\u010dujejo:<\/p>\n<p>&nbsp;<\/p>\n<ul>\n<li>Nevrolo\u0161ke te\u017eave: Te\u017eave pri u\u010denju in razmi\u0161ljanju ter redkeje epilepsija, mo\u017eganska kap in nabiranje odve\u010dne teko\u010dine v mo\u017eganih (hidrocefalus).<\/li>\n<li>Skrbi zaradi videza: obse\u017ene svetlo rjave pike na ko\u017ei, \u0161tevilni \u017eiv\u010dni tumorji na predelu obraza.<\/li>\n<li>Skeletne te\u017eave: Nenormalno oblikovane kosti pri otrocih, ukrivljenost hrbtenice (skolioza) in zmanj\u0161ana mineralna gostota kosti, kar lahko vodi v osteoporozo.<\/li>\n<li>Vidne te\u017eave: Na \u017eivcu, ki vodi od o\u010desa do mo\u017eganov (opti\u010dni \u017eivec), se lahko pojavijo tumorji.<\/li>\n<li>Pove\u010danje nevrofibroma: Puberteta, nose\u010dnost ali menopavza lahko povzro\u010dijo pove\u010danje nevrofibroma.<\/li>\n<li>Sr\u010dno-\u017eilne te\u017eave: pove\u010dano tveganje za povi\u0161an krvni tlak in redke nepravilnosti krvnih \u017eil.<\/li>\n<li>Rak: V redkih primerih lahko NF1 povzro\u010di razvoj rakavih tumorjev, ki so posledica nevrofibroma pod ko\u017eo ali pleksiformne nevrofibromatoze, ki vklju\u010dujejo ve\u010d \u017eivcev.<\/li>\n<\/ul>\n<p>Zapleti nevrofibromatoze 2 vklju\u010dujejo:<\/p>\n<p>&nbsp;<\/p>\n<ul>\n<li>Vestibularni \u0161vanomi v obeh u\u0161esih<\/li>\n<li>Delna ali popolna gluhost<\/li>\n<li>Te\u017eave z vidom<\/li>\n<li>Po\u0161kodba obraznega \u017eivca<\/li>\n<li>Ko\u017ene lezije<\/li>\n<li>Slabost ali otrplost v okon\u010dinah<\/li>\n<li>Ve\u010dkratni benigni mo\u017eganski tumorji (meningiomi) ali spinalni tumorji<\/li>\n<\/ul>\n<h2 id=\"zapleti-svanomatoze\">Zapleti \u0161vanomatoze<\/h2>\n<p>&nbsp;<\/p>\n<p>Kroni\u010dna bole\u010dina, ki jo povzro\u010da \u0161vannomatoza, je lahko iz\u010drpavajo\u010da in lahko zahteva kirur\u0161ko zdravljenje ali zdravljenje bole\u010dine.<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"zdravljenje-raka\">Zdravljenje raka<\/h2>\n<p>Maligni tumorji in drugi raki, povezani z nevrofibromatozo, se zdravijo z obi\u010dajnimi terapijami raka, vklju\u010dno z operacijo, kemoterapijo in sevalno terapijo.<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"featured_media":0,"template":"","class_list":["post-72912","disease","type-disease","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v24.3 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Nevrofibromatoza - Humanitas.net<\/title>\n<meta name=\"robots\" content=\"noindex, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<meta property=\"og:locale\" content=\"sl_SI\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Nevrofibromatoza - Humanitas.net\" \/>\n<meta property=\"og:description\" content=\"Nevrofibromatoza je genetska motnja, ki moti rast celic v \u017eiv\u010dnem sistemu, zaradi \u010desar se tvorijo tumorji na \u017eiv\u010dnem tkivu. Tumorji se lahko razvijejo kjer koli v \u017eiv\u010dnem sistemu, vklju\u010dno z mo\u017egani, hrbtenja\u010do in \u017eivci. Nevrofibromatoza se obi\u010dajno diagnosticira v otro\u0161tvu ali zgodnji odrasli dobi. 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