Crigler-Najjar Syndrome

Crigler-Najjar syndrome is a disease, first described in 1952 &, characterized by a severe nonhaemolytic unconjugated hyperbilirubinemia, without hepatic damage $, caused by a complete (Type 1) or partial (Type 2) uridine diphosphoglucoronyl transferase (UDPGT) deficiency. The two different forms of the disorder have a different prognosis. In Type 1 Crigler-Najjar syndrome, characterized by early onset and autosomal recessive inheritance, the hyperbilirubinemia is unresponsive to phenobarbital treatment and phototherapy. Children with this disease need liver transplantation before kernikterus develops &. In Type 2 form, with late onset and autosomal dominant transmission, the induction of the residual enzyme activity by phenobarbital allows medical treatment alone without neurological impairment &.
Kaufman and colleagues reported the first liver transplantation for type I Crigler-Najjar syndrome, demonstrating a permanent normalization of total bilirubin &. Liver transplantation  is now considered the only therapeutic choice for patients not responsive to phototherapy. In these patients liver function is normal, except for the enzyme defect, therefore auxiliary liver transplantation has been successfully performed &.