{"id":71331,"date":"2017-11-08T14:05:06","date_gmt":"2017-11-08T14:05:06","guid":{"rendered":"http:\/\/humanitasnet-new.local\/malattie\/metahromatska-leukodistrofija\/"},"modified":"2025-01-13T02:56:34","modified_gmt":"2025-01-13T02:56:34","slug":"metahromatska-leukodistrofija","status":"publish","type":"disease","link":"https:\/\/humanitas-net.humweb.webiz.team\/sr\/diseases\/metahromatska-leukodistrofija\/","title":{"rendered":"Metahromatska leukodistrofija"},"content":{"rendered":"

Metahromatska leukodistrofija, koja se jo\u0161 naziva i deficijencija Arilsulfataze A, jeste redak genetski poreme\u0107aj i deo ve\u0107e grupe lizozomskih bolesti nakupljanja. Ta\u010dnije, ovaj poreme\u0107aj poga\u0111a rast i\/ili razvoj mijelina koji deluje kao izolator oko nervnih vlakana unutar perifernog i centralnog nervnog sistema. Nedostatak ovog enzima koji poma\u017ee u razgradnji masno\u0107a dovodi do ugradnje lipida u tkivo mozga, ki\u010dmene mo\u017edine i perifernih nerava. Kao rezultat toga, mozak i nervni sistem ubrzano gube svoju funkciju. U retkim slu\u010dajevima, ovo stanje je uzrokovano nedostatkom ne-enzimskog proteina (koji se naziva \u2018aktivator protein\u2019).<\/span><\/p>\n

\u00a0<\/span><\/p>\n

Simptomi<\/span><\/h2>\n

Kao i mnogi drugi genetski poreme\u0107aji koji uti\u010du na metabolizam masti, postoji nekoliko oblika MLD-a, koji se mogu preklapati. Me\u0111u njima su:<\/span><\/p>\n

Infantilni oblik, koji se javlja kod male dece uzrasta od 6 meseci do 2 godine. Me\u0111u simptomima koji se javljaju su gubitak mi\u0161i\u0107ne mase i slabost, nepokretljivost mi\u0161i\u0107a, zaostanak u razvoju, uznapredovano slabljenje vida koje rezultira slepilom, konvulzije, nepravilno gutanje, paraliza i demencija. Deca mogu da zapadnu u stanje kome. Ukoliko se ne le\u010di, ve\u0107ina dece sa ovim oblikom MLD izgube \u017eivot do 5. godine, neka \u010dak i ranije. <\/span><\/p>\n

Juvenilni oblik, javlja se kod dece uzrasta od 3 do 6 godina (rani juvenilni) ili kod dece uzrasta od 6 do 16 godina (kasni juvenilni oblik). Deca obi\u010dno po\u010dinju da ispoljavaju smanjenu aktivnost u \u0161koli, pogor\u0161anje mentalne sposobnosti, i demenciju, da bi se kasnije razvili simptomi sli\u010dni onima kod kasne infantilne forme, ali sa usporenijim napredovanjem toka bolesti. <\/span><\/p>\n

Odrasli oblik, pojavljuje se kod osoba od 17 i vi\u0161e godina. Ovaj oblik obi\u010dno se javlja u uzrastu od 16 godina kao psihijatrijski poreme\u0107aj ili progresivna demencija. Odrasli oblik MLD dosta sporije napreduje od infantilnog i juvenilnog oblika, uz produ\u017eeni tok bolesti od jedne decenije ili \u010dak i vi\u0161e. <\/span><\/p>\n

\u00a0<\/span><\/p>\n

Uzroci<\/span><\/h2>\n

MLD je direktno uzrokovana nedostatkom enzima Arilsulfataze A (ARSA) i karakteri\u0161e se aktivno\u0161\u0107u enzima u leukocitima koja je ni\u017ea od 10% od normalne kontrolisane vrednosti. Me\u0111utim, test aktivnosti ARSA enzima nije dovoljan za dijagnozu; ARSA pseudo-deficijencija, koja se karakteri\u0161e aktivno\u0161\u0107u koja iznosi 20% od normalne vrednosti ne uzrokuje pojavu MLD. Bez prisustva ovog enzima, sulfatidi kao sastavni deo mnogih tkiva u organizmu, kona\u010dno uni\u0161tavaju mijelinski omota\u010d nervnog sistema.<\/span><\/p>\n

\u00a0<\/span><\/p>\n

Faktori rizika<\/span><\/h2>\n

Ovaj poreme\u0107aj se nasle\u0111uje putem autosomalnog recesivnog \u0161ablona, \u0161to zna\u010di da obe kopije gena u svakoj od \u0107elija nose mutaciju. Oba roditelja osobe sa autosomalnim recesivnim stanjem nose po jednu kopiju mutiranog gena, ali oni sami nemaju znakove ni simptome ovog poreme\u0107aja.\u00a0 <\/span><\/p>\n","protected":false},"featured_media":0,"template":"","class_list":["post-71331","disease","type-disease","status-publish","hentry"],"yoast_head":"\nMetahromatska leukodistrofija - 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=\"sr_RS\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Metahromatska leukodistrofija - Humanitas.net\" \/>\n<meta property=\"og:description\" content=\"Metahromatska leukodistrofija, koja se jo\u0161 naziva i deficijencija Arilsulfataze A, jeste redak genetski poreme\u0107aj i deo ve\u0107e grupe lizozomskih bolesti nakupljanja. Ta\u010dnije, ovaj poreme\u0107aj poga\u0111a rast i\/ili razvoj mijelina koji deluje kao izolator oko nervnih vlakana unutar perifernog i centralnog nervnog sistema. 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