| Abstract | Epilepsija se definira kao poremećaj funkcije mozga, a glavna karakteristika bolesti su recidivirajući napadaji koji nastaju kao posljedica nekontroliranog i abnormalnog električnog izbijanja moždanih stanica. Epileptički napadaji klinički se manifestiraju različitim simptomima ovisno o tome koji je dio kore mozga zahvaćen prekomjernom neuronalnom aktivnošću. Ubraja se u skupinu najčešćih primarnih bolesti središnjeg živčanog sustava. S obzirom na dob, najveći broj pojavljivanja je u osoba mlađih od 7 godina i starijih od 65 godina. Važno je naglasiti kako epileptički napadaji kao i antikonvulzivna terapija bitno narušavaju kvalitetu života pojedinca i pridonose razvoju niza komorbiditeta kao što su depresija, anksiozni poremećaj, kognitivno oštećenje, srčanovaskularna oboljenja. Upravo zbog toga potrebno je učiniti iscrpnu dijagnostičku obradu koja će omogućiti pravilno postavljanje dijagnoze, utvrđivanje etiologije i pružanje adekvatnog liječenja i skrbi. Glavne standardne dijagnostičke metode su EEG, CT i MR. U posebnim situacijama primjenjuju se dodatne neuroradiološke metode kao što su PET-CT i SPECT. Trenutno se provodi niz istraživanja u svrhu otkrića dovoljno specifičnih i osjetljivih biomarkera u dijagnostici epilepsije. Dosadašnja istraživanja potvrdila su dijagnostičku važnost biomarkera kao što su laboratorijski biomarkeri (miRNA, neuroinflamatorni citokini), elektrofiziološki biomarkeri i neuroradiološke metode. Značajan napredak u dijagnostici epilepsije omogućila su genomska istraživanja koja su otkrila i dijelom objasnila genetsko- molekularne mehanizme u razvoju epilepsije i zbog toga genski faktori predstavljaju ključan element u dijagnostici epilepsije. Zajednička primjena navedenih biomarkera otvara put pravilnom postavljanju dijagnozu epilepsije, a samim time omogućava bržu obradu bolesnika i odabir najučinkovitijeg terapijskog pristupa što bitno utječe na cjelokupan život pojedinca, obitelji i šire zajednice. |
| Abstract (english) | Epilepsy is defined as a malfunction of brain activity characterised by recurrent seizures caused by excessive neuronal activity of brain cells. Epilepsy seizures are clinically manifested by various symptoms, depending on which part of the brain is affected by excessive neuronal activity. Furthermore, epilepsy is the most common primary disease of the central nervous system. Considering the age, the largest number of occurrences is among patients younger than 7 years and older than 65 years old. Moreover, it is important to emphasize that epileptic seizures, as well as anticonvulsant therapy, have a huge impact on the quality of life and contribute to the development of range of comorbidities, such as depression, anxiety disorder, cognitive impairment and cardiovascular disease. Therefore, it is mandatory to perform detailed diagnostic examination in order to confirm diagnosis, determine the etiology and to provide adequate treatment and care. The essential standard diagnostic methods are EEG, CT and MR. PET-CT and SPECT are additional neuroradiological methods that are used in special conditions. Nowadays, a large amount of research has been carried out with a focus on identification sufficiently specific and sensitive biomarkers in the diagnosis of epilepsy. Previous studies confirmed diagnostic significance of biomarkers, such as laboratory biomarkers (miRNAs, neuroinflammatory cytokines), electrophysiological biomarkers and neuroradiological methods. A huge progress has been made in diagnostic approach to epilepsy by genomic research that discovered and partly explained genetic-molecular mechanisms in the development of epilepsy. As a consequent, genetic factors represent fundamental matter in diagnostic algorithm of epilepsy. The common application of these biomarkers enables proper diagnosis of epilepsy, including faster examination of patient and the selection of most effective therapeutic approach, that significantly affects entire life of an individual, their family and wider community. |
