HEREDITARY UNCONJUGATED HYPERBILIRUBINEMIA

Congenital hereditary non-conjugate hyperbilirubinemias include Gilbert’s syndrome, Crigler-Najjar type 1 and 2 syndromes (or Arias’ disease). They are caused by a deficiency of the enzyme - bilirubinuridine-5’-diphosphate glucuronosyltransferase (UGT1A1), involved in glucuronization bilirubin. The is due to mutations UGT1A1 gene, which provides activity. Complete or almost complete loss (Crigler-Najjar syndrome 1) decreased activity (Gilbert’s 2) lead impaired conversion bilirubin liver with accumulation unconjugated blood. Syndromes distinguished level blood plasma, reaction introduction phenobarbital, presence absence glucuronides bile.