Avtor/Urednik		Ostanek, Barbara
Naslov		Genetika in farmakogenetika Gilbertovega sindroma
Prevedeni naslov		Genetics and pharmacogenetics of Gilbert's syndrome
Tip		članek
Vol. in št.		Letnik 60, št. 1
Leto izdaje		2009
Obseg		str. 3-7
ISSN		0014-8229 - Farmacevtski vestnik
Jezik		slv
Abstrakt		Gilbertov sindrom je najpogostejša dedna motnja v presnovi bilirubina. Blaga nekonjugirana hiperbilirubinemija nastane kot posledica znićane konjugacije bilirubina zaradi polimorfizmov v genu za UDP-glukuronil-transferazo 1A1 (UGT1A1). Dodatno lahko k njej prispeva zmanjšan transport nekonjugiranega bilirubina v hepatocite zaradi polimorfizmov v genu za organski anionski prenašalec SLCO1B1. Poleg bilirubina so substrati za UGT1A1 in SLCO1B1 tudi številne zdravilne učinkovine. Polimorfizmi v obeh genih, ki so prisotni pri bolnikih z Gilbertovim sindromom, imajo zato pomen v individualizaciji zdravljenja. Njihov vpliv na farmakokinetioeni profil zdravilnih učinkovin in s tem na njihove terapevtske ali stranske učinke je najbolje proučen pri zdravljenju z irinotekanom in pravastatinom.Gilbert's syndrome is the most common hereditary disorder of bilirubin metabolism. Mild unconjugated hyperbilirubinemia results from decreased activity of UDP-glucuronosyltransferase 1A1 due to polymorphisms in the UGT1A1encoding gene. Polymorphisms in the gene encoding organic anion transporter SLCO1B1 can reduce the hepatic uptake of unconjugated bilirubin and also contribute to hyperbilirubinemia. Besides bilirubin, several drugs are also substrates for glucuronidation with UGT1A1 or hepatic uptake by SLCO1B1. Polymorphisms in both genes associated with Gilbert's syndrome have therefore important implications for individualised therapy. Their impact on pharmacokinetic profile and therapeutic or side effects has been best described for irinotecan and pravastatin.
Proste vsebinske oznake		hiperbilirubinemija UGT1A1 SLCO1B1 polimorfizem toksičnost zdravil