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
Tuberozna skleroza
Tuberozna skleroza je genska bolest. U mnogim organima uzrokuje rast tumora (obično hamartoma).
Nasljeđivanje
Nasljeđuje se dominantno. Djeca s tuberoznom sklerozom (TS ili TS kompleksom) imaju tumore brojnih organa. Ukoliko jedan od roditelja ima TS, mogućnost da će i dijete oboljeti iznosi 50%. Međutim, za većinu novih slučajeva odgovorne su nove mutacije. TS može zahvatiti srce, oči, pluća i kožu.
Simptomi i znakovi
Može da se ispoljava pojavom epilepsije, te mentalnim zaostajanjem, autizmom, takođe mogu da se jave i problemi sa učenjem kao i promjene ponašanja. Bolest se može manifestovati i pojavom konvulzija-infantilni spazmi. Većina djece ima tumore bubrega, koji mogu uzrokovati hipertenziju i cističnu bolest bubrega. Kod određenog broja oboljelih se može razviti i karcinom bubrega. Neka djeca takođe imaju srčane tumore. U mozgu se mogu razviti tuberi i tumori. Česte su i mrlje na mrežnjači (unutrašnja ovojnica) oka.
Na koži se prvo javljaju blijede mrlje (oblika listova), koje se razvijaju u dojenačkoj dobi ili ranom djetinjstvu; angiofibromi lica (adenoma sebaceum), se razvijaju u kasnijem djetinjstvu; izdignute promjene koje izgledaju poput narandzine kore obično se pojavljuju na leđima; mrlje boje bijele kafe te subungualni fibromi se mogu razviti bilo kada tokom djetinjstva i rane odrasle dobi.
Dijagnoza
Promjene na srcu i mozgu mogu se vidjeti prenatalnom ultrazvučnom pretragom. Pregledom očnog fundusa (dna) mogu se vidjeti mrlje na mrežnjači. Dijagnoza se potvrđuje MR-om ili ultrazvukom zahvaćenih organa. Takođe, postoji specifična genska pretraga.
Prognoza i liječenje
Prognoza bolesti zavisi od težine simptoma. Djeca s blagim simptomima su obično dobrog stanja i žive dugim, produktivnom životom, dok se kod djece s težim simptomima može razviti ozbiljan stepen invaliditeta. Bez obzira na težinu bolesti, većina djece pokazuje trajno napredovanje u razvoju. Ponekad može doći do neurološke degeneracije koju je potrebno ispitati.
Liječenje
Liječenje je simptomatsko te može uključivati antikonvulzive ili, kod konvulzija, čak i operaciju mozga. Promjene na koži mogu se odstraniti dermoabrazijom ili laserom. Neurobihevioralne tegobe i hipertenzija uzrokovana promjenama na bubrezima mogu se liječiti medikamentozno a rastući tumori se odstranjuju hirurškim zahvatom. Adolescentima i odraslim osobama reproduktivne dobi preporučuje se genetko savjetovanje.
