{"id":800,"date":"2023-03-14T21:35:56","date_gmt":"2023-03-14T20:35:56","guid":{"rendered":"https:\/\/neurokidbossa.rs\/?p=800"},"modified":"2023-03-14T21:46:51","modified_gmt":"2023-03-14T20:46:51","slug":"etiologija-uzroci-epilepsije","status":"publish","type":"post","link":"https:\/\/neurokidbossa.rs\/en\/etiologija-uzroci-epilepsije\/","title":{"rendered":"Etiologija – Uzroci epilepsije"},"content":{"rendered":"

Etiologija – Uzroci epilepsije<\/h2>\n\n\n\n

Uzroci epilepsije mogu biti raznovrsni. Od prvog trenutka kada se lekar susretne sa pacijentom koji boluje od epilepsije njegov je zadatak da poku\u0161a da otkrije uzrok emitovanja epilepti\u010dnih napada. Zbog toga je Magnetna rezonanca (Magnetic Resonance Imaging-MRI) veoma va\u017eno dijagnosti\u010dko sredstvo za otkrivanje strukturnih abnormalnosti mozga kao \u0161to su razli\u010dite malformacije kortikalnog razvoja.<\/p>\n\n\n\n

Prema klasifikaciji predlo\u017eenoj od strane  Internacionalne Lige za borbu protiv Epilepsije (ILAE Classification of the Epilepsies (2017)<\/a>) postoji 6 uzroka odgovornih za stvaranje epilepti\u010dkih napada:<\/p>\n\n\n\n

    \n
  1. Strukturne abnormalnosti mozga<\/li>\n\n\n\n
  2. Genetski faktori<\/li>\n\n\n\n
  3. Infekcije Centralnog nervnog sistema<\/li>\n\n\n\n
  4. Metaboli\u010dki poreme\u0107aji<\/li>\n\n\n\n
  5. Imuni faktori<\/li>\n\n\n\n
  6. Nepoznati uzrok<\/li>\n<\/ol>\n\n\n\n

    Potrebno je ista\u0107i da se ponekada uzroci mogu preklapati kao i da je mogu\u0107e da pacijent ima epilepsiju za koju su odgovorni genetski faktori a koji s druge strane determini\u0161u odgovaraju\u0107u strukturnu abnormalnost mozga. Najbolji primer za ovo je epilepsija koju imaju deca i odrasli sa Tuberoznom sklerozom (Tuberous Sclerosis Complex-TSC ), malformacijom mo\u017edanog razvoja za koju su odgovorna dva gena: TSC 1 gen (hamartin-9q34) i TSC2 gen (tuberin -16p13.3).<\/p>\n\n\n\n

    Strukturna etiologija va\u017ena je za hirur\u0161ko le\u010denje epilepsija , dok\u00a0 je spoznaja da se radi o genetski uslovljenoj epilepsiji va\u017ena za savetovanje roditelja i razmatranje novih terapijskih pristupa kakva je npr. terapija mTOR inhibitorima kao u slu\u010daju TSC gde se koristi Everolimus kao lek izbora (David N. Franz, et al Epilepsia.\u00a02018 Jun;\u00a059(6): 1188\u20131197.\u00a0Published online 2018 May 4.\u00a0doi:\u00a010.1111\/epi.14085).<\/p>\n\n\n\n

    <\/p>\n\n\n\n

    Strukturna etiologija<\/strong><\/h3>\n\n\n\n

    Strukturni uzroci epilepsije podrazumevaju jasnu abnormalnost u strukturi mozga koja je jasno vidljiva na MRI mozga, kao \u0161to je \u0161log (stroke), trauma ili infekcija (tuberkuloza, malaria, HIV i dr), hipoksi\u010dno \u2013 ishemi\u010dna encefalopatija itd. Postoji jasna veza izmedju strukturne lezije mozga i epilepti\u010dnih napada kakav je slu\u010daj sa mezijalom temporalnom sklerozom i hipokampalnom sklerozom, kao i ve\u0107 pomenutom TSC i napadima tipa infantilnih spazama i geleasti\u010dnih napada koji se mogu javiti kod hamartoma hipotalamusa.<\/p>\n\n\n\n

    <\/p>\n\n\n\n

    Geneti\u010dki uzroci epilepsija<\/strong><\/h3>\n\n\n\n

    Koncept geneti\u010dkog uzroka epilepsija podrazumeva ili direktno pronala\u017eenje mutacije odgovaraju\u0107eg  gena odgovornog za nastale napade – abnormalnosti natrijumovih (SCN1A, SCN2A ili SCN8A, mutacija), kalijumovih (KCNQ2 ili KCNQ3 mutacija) ili Kalcijumovih kanala (CACNA1A), ili pretpostavljenih   mutacija gena koji jo\u0161 nisu otkriveni.<\/p>\n\n\n\n

    Tako\u0111e se pretpostavlja da su De\u010dja absansna epilepsija (Childhood Absence Epilepsy-CAE) i Juvenilna miokloni\u010dka epilepsija (Juvenile Myoclonic Epilepsy-JME) genetski uzrokovane ali precizna genetska mutacija jo\u0161 uvek nije poznata.<\/p>\n\n\n\n

    Zato se svaki genetski rezultat mora interpretirati u kontekstu klini\u010dke slike, tj. vrste i karakteristika epilepti\u010dkih napada. Genska mutacija sama po sebi ne moze biti faktor ozbiljnosti oboljenja niti prognosti\u010dki faktor.Ovo iz razloga \u0161to ve\u0107ina gena pokazuje fenotipsku heterogenost (razli\u010ditu klini\u010dku sliku), a sa druge strane razli\u010diti epilepti\u010dki sindromi mogu biti determinisati sa vi\u0161e gena. Tako\u0111e treba naglasiti da termin geneti\u010dki<\/strong> ne zna\u010di automatski da je nasledan, jer se mnoge mutacije javljaju \u201ede novo\u201c, \u0161to zna\u010di da nisu nasle\u0111eni od roditelja. To \u00a0zna\u010di da \u0107e osoba koja ima \u201ede novo\u201c mutaciju preneti na 50% svog potomstva mutaciju ali to ne zna\u010di da \u0107e oni imati epilepsiju, jer ispoljavanje klini\u010dke epilepsije zavisi\u0107e od penetracije gena (ispoljavanje te\u017eine bolesti kroz generacije).<\/p>\n\n\n\n

    <\/p>\n\n\n\n

    Infekcije mozga<\/strong><\/h3>\n\n\n\n

    Kada govorimo o infekciji mozga kao uzroku epilepsije misli se na hroni\u010dne infekcije kao \u0161to su tuberkuloza, neurocisticerkoza, cytomegalovirus, toxoplazmoza, malarija, HIV i dr, pre nego na akutne infekcije centralnog nervnog sistema kakve su meningitis ili encefalitis. Nekada infektivna etiologija mo\u017ee uzrokovati strukturne promene.<\/p>\n\n\n\n

    <\/p>\n\n\n\n

    Metaboli\u010dki uzroci<\/strong><\/h3>\n\n\n\n

    Metaboli\u010dki uzroci epilepsija u osnovi imaju jasnu definisanu metaboli\u010dku bolest koja kao glavni simptom ima epilepti\u010dne napade kao u slu\u010daju aminoacidopatija, vit B6 zavisnih napada ili porfirije. U ve\u0107ini slu\u010dajeva metaboli\u010dki poreme\u0107aji su genski determinisani, ali njihovo prepoznavanje i pravovremeno dijagnostikovanje omogu\u0107ava brzu terapijsku intervenciju i u slu\u010daju metaboli\u010dkih poreme\u0107aja koji se mogu tretirati (npr Vit B6 zavisni napadi) spre\u010davanje razvojnih neurolo\u0161kih smetnji i mentalne retardacije.<\/p>\n\n\n\n

    <\/p>\n\n\n\n

    Imuna etiologija<\/strong><\/h3>\n\n\n\n

    Odnosi se na razli\u010dite vrste imuno posredovanih reakcija koje za posledicu imaju inflamaciju centralnog nervnog sistema pokrenutu autoimunim odgovorom i sledstveno uni\u0161tavanje normalnih \u0107elija mozga. Najva\u017eniji predstavnik ove grupe je NMDA receptor autoimuni encefalitis.<\/p>\n\n\n\n

    <\/p>\n\n\n\n

    Nepoznati uzrok epilepsija<\/strong><\/h3>\n\n\n\n

    Sve vrste napada i epilepsija za koje ne postoji vidljivi uzrok , uprkos svim oblicima predhodnog ispitivanja kao \u0161to su: MRI mozga, geneti\u010dko testiranje, metaboli\u010dki testovi i dr. svrstavaju se u ovu grupu.<\/p>\n\n\n\n

    Vi\u0161e o epilepsiji kod dece pro\u010ditajte na https:\/\/neurokidbossa.rs\/epilepsija-kod-dece\/<\/a><\/p>","protected":false},"excerpt":{"rendered":"

    Etiologija – Uzroci epilepsije Uzroci epilepsije mogu biti raznovrsni. Od prvog trenutka kada se lekar susretne sa pacijentom koji boluje od epilepsije njegov je zadatak da poku\u0161a da otkrije uzrok emitovanja epilepti\u010dnih napada. Zbog toga je Magnetna rezonanca (Magnetic Resonance Imaging-MRI) veoma va\u017eno dijagnosti\u010dko sredstvo za otkrivanje strukturnih abnormalnosti mozga kao \u0161to su razli\u010dite malformacije […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"disabled","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[1],"tags":[],"class_list":["post-800","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nEtiologija – Uzroci epilepsije - 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