Title Epilepsija i tuberozna skleroza Title (english) Epilepsy and tuberous sclerosis Author Josipa Vukoja Mentor Željka Petelin Gadže (mentor)Committee member Zdravka Poljaković-Skurić (predsjednik povjerenstva)Committee member Mario Habek (član povjerenstva)Committee member Željka Petelin Gadže (član povjerenstva)Granter University of Zagreb Defense date and country 2022-07-15, Croatia Scientific / art field, BIOMEDICINE AND HEALTHCARE Abstract Epilepsija je jedna od najčešćih neuroloških bolesti, a zbog svojih je značajki ozbiljan medicinski i socijalni problem. Definirana se kao bolest karakterizirana trajnom predispozicijom za nastanak epileptičkih napadaja te neurobiološkim, kognitivnim, psihološkim i socijalnim posljedicama tog stanja. Dijagnoza se ,osim prema definiranim kriterijima izdanim od strane ILAE , postavlja i na temelju kliničke slike, nalaza EEG-a koji je zlatni standard za dijagnostiku epilepsija te drugih neuroslikovnih metoda. Liječenje epilepsije je simptomatsko, s ciljem reduciranja ili potpunog zaustavljanja epileptičkih napadaja. Epileptički napadaji se kod velikog broja oboljelih uspijevaju zadovoljavajuće kontrolirati dostupnom antiepileptičkom terapijom (AET). Epilepsija je jedna od glavnih kliničkih manifestacija te značajnim uzrokom morbiditeta i mortaliteta multisistemske bolesti tuberozne skleroze (TSC). Tuberozna skleroza je nasljedna autosomno dominantna bolest uzrokovana mutacijom tumor supresor gena TSC1 ili TSC2, što uzrokuje prekomjernu aktivaciju mTOR signalnog puta, koji je uključen u procese proliferacije, stanične migracije i angiogeneze. Rezultat prekomjerne aktivacije signalnog puta je stvaranje hamartoma u brojnim organima koji uzrokuju kliničke simptome bolesti. Rano postavljanje dijagnoze na temelju međusobno neovisnih kliničkih i genetskih kriterija, pravovremeno liječenje i praćenje pacijenata unaprijedilo je kvalitetu života i poboljšalo kliničke ishode bolesti. Liječenje TSC-a temelji se na simptomatskoj terapiji, međutim, sve više se u liječenju koriste mTOR inhibitori koji djeluju ciljano na uzrok bolesti na molekularnoj razini.
Abstract (english) Epilepsy is one of the most frequent neurological diseases and a serious medical and social issue due to its clinical features. It is defined as a disease characterised by a permanent predisposition for epileptic seizures, as well as the neurobiological, cognitive, psychological and social consequences of said state. It is diagnosed, apart from the criteria defined by the International League Against Epilepsy (ILAE), based on the clinical presentation, electroencephalography (EEG) findings (the gold standard for diagnosing epilepsy) and other neuroimaging methods. The treatment of epilepsy is symptomatic, with the goal of reduction or complete cessation of epileptic seizures. In the majority of patients, epileptic seizures can be adequately controlled by the available antiepileptic treatments (AET). Epilepsy is one of the main clinical manifestations and a significant cause of morbidity and mortality in a multisystem disorder called tuberous sclerosis (TSC). Tuberous sclerosis is a hereditary, autosomal dominant disease caused by a mutation of the tumour suppressor genes TSC1 or TSC2. This mutation causes the overactivation of the mTOR signal pathway, which participates in the processes of proliferation, cellular migration and angiogenesis. The result of signal pathway overactivation is the formation of hamartomas in numerous organs, which cause clinical symptoms of the disease. Early diagnosis based on independent clinical and genetic criteria, timely treatment and patient follow-up has advanced the quality of life and improved clinical outcomes. The treatment of TSC is based on symptomatic therapy. However, mTOR inhibitors, which act by targeting the cause of the disease on a molecular level, are being increasingly used.
Keywords
epilepsija
antiepileptička terapija
tuberozna skleroza
mTOR inhibitori
Keywords (english)
epilepsy
antiepileptic drugs
tuberous sclerosis
mTOR inhibitors
Language croatian URN:NBN urn:nbn:hr:105:378166 Study programme Title: Medicine Type of resource Text File origin Born digital Access conditions Open access Terms of use Created on 2023-03-23 09:04:48
