Definición de Crigler-Najjar tipo 2 síndrome

Crigler-Najjar syndrome is a rare disorder of bilirubin metabolism resulting in familial, congenital, non-hemolytic hyperbilirubinemia. más

Crigler-Najjar syndrome is a rare disorder of bilirubin metabolism resulting in familial, congenital, non-hemolytic hyperbilirubinemia. This often results in neonatal kernicterus. It is divided into two types: type I and type II (sometimes called Arias syndrome). Together with Gilbert's syndrome, these are the three known hereditary defects in bilirubin conjugation, thus all characterized by increased mono- or unconjugated (=indirect) bilirubin. Some puzzling features of these diseases have been clarified since the discovery of the uridine diphosphate glucuronyl transferase 1 (UGT1) gene complex. less