Prvi bolesnik u Srbiji sa biohemijski i genetički dijagnostikovanom piridoksin zavisnom epilepsijom

  • Miloš M Ješić University Children’s Hospital, Belgrade, Serbia; University of Belgrade, Faculty of Medicine, Belgrade, Serbia
  • Maja D Ješić University Children’s Hospital, Belgrade, Serbia; University of Belgrade, Faculty of Medicine, Belgrade, Serbia
  • Svetlana Buljugić University Children’s Hospital, Belgrade, Serbia
  • Aleksandra Živanović University Children’s Hospital, Belgrade, Serbia
DOI: https://doi.org/10.2298/VSP150311244J
Ključne reči: epilepsy||, ||epilepsija, infant, newborn||, ||novorođenče, vitamin B6||, ||vitamin B6, genetic diseases, inborn||, ||genetičke bolesti, urođene, diagnosis, differential||, ||dijagnoza, diferencijalna, drug therapy||, ||lečenje lekovima, serbia||, ||srbija,

Sažetak


Uvod. Piridoksin zavisna epilepsija (PZE) je redak, urođeni autozomno-recesivan poremećaj metabolizma sa ranom pojavom konvulzija rezistentnih na uobičajene antikonvulzivne lekove. Utvrđeno je da je PZE posledica poremećaja α-aminoadipin semialdehid dehidrogenaze (poznate i kao ALDH7A1 ili antikvitin) na putu degradacije cerebralnog lizina. Njegov nedostatak dovodi do nakupljanja α-aminoadipin semialdehida (α-AASA), piperidin-6-karboksilata i pipekolične kiseline u urinu, plazmi i cerebrospinalnoj tečnosti, i oni se koriste kao dijagnostički markeri oboljenja. α-Aminoadipin semialdehid dehidrogenaza je kodirana ALDH7A1 ili antikvitin genom i definitivna dijagnoza PZE se utvrđuje genetičkom analizom. Prikaz bolesnika. Ovo je prikaz prvog bolesnika u Srbiji čije je oboljenje dijagnostikovano klinički, biohemijski i genetički. Na PZE smo posumnjali zbog konvulzija rezistentnih na lekove koje su se javile sedmog dana života kada smo kod bolesnika pokušali lečenje primenom piridoksina. Od početka primene pirodiksina bolesnik više nije imao ponavljane konvulzije. Bolesnik je imao značajno povišen α-AASA u urinu tokom lečenja pojedinačnim dozama piridoksina. Analizom na molekularno-genetičkom nivou identifikovane su mutacije ALDH7A1 ili antikvitin gena. Zaključak. α-AASA je pouzdan marker za selekciju bolesnika sa PZE radi molekularne analize ALDH7A1 gena. Dijagnoza našeg bolesnika potvrđena je analizom na molekularno-genetičkom nivou i nije bilo potrebno prekidati terapiju piridoksinom radi potvrđivanja dijagnoze PZE.

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Objavljeno
2017/07/07
Broj časopisa
Vol. 74 Br. 6 (2017)
Rubrika
Prikaz bolesnika