Περίληψη:
Gilbert syndrome is a common autosomal dominant hereditary condition with incomplete penetrance and characterized by intermittent unconjugated hyperbilirubinemia in the absence of hepatocellular disease or hemolysis. In patients with Gilbert syndrome, uridine diphosphate-glucuronyl transferase activity is reduced to 30% of the normal, resulting in indirect hyperbilirubinemia. In its typical form, hyperbilirubinemia is first noticed as intermittent mild jaundice in adolescence. However, Gilbert syndrome in combination with other prevailing conditions such as breast feeding, G-6-PD deficiency, thalassemia, spherocytosis, or cystic fibrosis may potentiate severe hyperbilirubinemia and/or cholelithiasis. It may also reduce plasma oxidation, and it may also affect drug metabolism. Although in general the diagnosis of the syndrome is one of exclusion, molecular genetic tests can now be performed when there is a diagnostic problem. The most common genotype of Gilbert syndrome is the homozygous polymorphism A(TA)7TAA in the promoter of the gene for UDP-glucuronosyltransferase 1A1 (UGT1A1), which is a TA insertion into the promoter designated UGT1A1*28. No specific management is necessary as Gilbert syndrome is a benign condition. Conclusion: Gilbert genotype should be kept in the clinician's mind, at least as a contributor factor, in cases with unexplained indirect hyperbilirubinemia. © 2011 Springer-Verlag.
Συγγραφείς:
Fretzayas, A.
Moustaki, M.
Liapi, O.
Karpathios, T.
Λέξεις-κλειδιά:
bilirubin; glucuronosyltransferase 1A1; phenobarbital; rifampicin, bilirubin blood level; cholelithiasis; cystic fibrosis; DNA polymorphism; drug metabolism; genotype; Gilbert disease; glucose 6 phosphate dehydrogenase deficiency; human; hyperbilirubinemia; liver transplantation; newborn jaundice; oxidation; priority journal; prognosis; promoter region; review; spherocytosis; thalassemia; genetics; Gilbert disease; history; hyperbilirubinemia; nomenclature, Eponyms; Gilbert Disease; History, 20th Century; Humans; Hyperbilirubinemia
