FABRIJEVA BOLEST U DECE – OD SUMNJE DO DIJAGNOZE
FABRIJEVA BOLEST U DECE – OD SUMNJE DO DIJAGNOZE
Ključne reči:
Fabrijeva bolest, deca, enzimska supstituciona terapijaApstrakt
Činjenica je da retke bolesti u dece nisu toliko retke koliko lekari generalno retko misle na njih. To je posledica sa jedne strane nasleđenog uverenja da većina retkih bolesti u dece nema dobru prognozu i sa druge strane objektivnih teškoća vezanih za dostupnost adekvatne dijagnostike i/ili mogućnost savremenog lečenja ovih pacijenata kod nas.
Skorašnji veliki pomak u medicini i farmakologiji koji je vezan za bolje shvatanje etiopatogeneze retkih bolesti kao i uvođenje i definisanje novih terapijskih shema i lekova koji su u velikoj meri popravili kvalitet i očekivanu dužinu života ovih bolesnika, postavljaju novi zahtev pred medicinske radnike i zajednicu u celini ne bi li se ovim pacijentima pružila nova šansa.
Fabrijeva bolest (FB) je tipičan predstavnik retkih bolesti koja danas ima mnogo optimističniju prognozu nego ranije,pre svega zahvaljujući uvođenjuenzimskesubstitucione terapije i razvoju bolje kliničke, biohemijske i molekularne dijagnostike čime se u velikoj meri može skratiti vreme prepoznavanja ovih bolesnika.
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