SAVREMENI STAVOVI O RETKIM METABOLIČKIM BOLESTIMA KOD DECE
DOI:
https://doi.org/10.46793/PP180325010FKljučne reči:
lizozomski enzim, supstituciona terapija, retke bolestiApstrakt
Retke bolesti su one bolesti koje pogađaju jednu od 2000 osoba širom sveta. Prema podacima oko 6000-7000 retkih bolesti je opisano do sada. Iako su one veoma različite oboleli se susreću sa slićnim problemima. Pre posatvljanja dijagnoze ponekad prođe i nekoliko godina, tokom kojih oni izgube dragocene vreme da započnu sa terapijom. Cilj ovog revijalnog rada je da da uvid u nekoliko retkih bolesti koje se uspešno tretiraju enzimskom supstitucionom terapijom. Istraživanje je sprovedeno pretragom the Cochrane Central Register of Controlled Trials (CENTRAL) in the Cochrane bibliotike, MEDLINE i Pub Me do januara 2018. Fabrijeva bolest je progresivno X vezano nasledno oboljenje poremećaja metabolizma glikosfingolipida usled odsustva ilii smanjne aktivnosti lizozomskog enzima a-galaktozidaze. Gošeova bolest se karaktriše nedostatkom ili kisele β-glucozidaze u akumulacijom glukozilceramida u lizozomima tkivnoh makrofaga. Akumulacija glukozilceramida je odgovoorna za kliničku sliku Gošeove boelsti koju karakteriše hepato, splenomegalija, trombocitopneija i anaemija. MPS I progresivne, nasledne bolesti koje nastaju kako posledica genske mutacije gena za α-L-iduronidazu (IUDA), enzim kojji razlaže glicozaminoglikane (GAGs). Pompeova bolest je retko progresivno oboljenje koje dovodi do nesposobnosti i fatalnog neuromišićnog poremećaja koja nastaje kao posledica nedostataka lizozomalnog enzima alfa glukozidaze. Enzimsko testiranje iz suve kapi krvi je ključno za dijagnozu sve prethodno četiri pomenute retke bolesti. Enzimska supstituciona terapija je jedini efikasna tretman pacijenata sa Fabrijevom bolešću, Gošeovom bolešću, Pompeovom bolešću i MPS I.
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