Crigler-Najjar syndrome jaundice

Type I Crigler-Najjar syndrome is a rare autosomal recessive disorder. It is characterized by severe congenital jaundice (serum bilirubin usually exceeds 20 mg/dL) due to mutations in the gene encoding bilirubin-UGT activity in hepatic tissues. The disease is often fatal within the first 15 months of life. Children with this condition have been treated with phototherapy, resulting in some reduction in plasma bilirubin levels. Phenobarbital has no effect on the formation of bilirubin glucuronides in patients with type I Crigler-Najjar syndrome. A liver transplant may be curative. 

J4. Jansen, F. H., Malvaux, P., Heirwegh, K. P. M., and Devriendt, A., Congenital non-hemolytic jaundice Crigler-Najjar syndrome. Biol. Neonatorum 14, 53-61 (1969). 

A condition similar to the Crigler-Najjar syndrome, though of only a temporary nature, is neonatal jaundice, which exists when the newborn (especially a... 

Kapitulnik J, Gonzalez FJ. 1992. The role of cytochrome P450 in the elimination of bilirubin in congenital jaundice (Crigler-Najjar syndrome type I). J. Basic Clin. Physiol. Pharmacol. 3 90-91... 

Crigler-Najjar syndrome type II (Arias syndrome) is milder, usually benign, and caused by partial deficiency of bilirubin UDP-glucuronyltransferase. Jaundice may not appear until the second or third decade of life. The monoglucuronide is the predominant pigment in bile. Phenobarbital induces the enzyme. Dominant and recessive inheritance patterns have been described. An accurate diagnosis of type 1, as opposed to type 2 Crigler-Najjar syndrome, is essential since orthotopic liver transplantation is an important therapy for type 1 patients. 

A major complicating factor can be hemolytic anemia such as that of erythroblastosis fetalis caused by Rh incompatibility between mother and child. The hemolysis increases the rate of bilimbin formation, which soon overwhelms the liver and produces severe jaundice and ker-nicterus. Sickle cell anemia has a similar effect. Congenital absence of bilimbin UDP-glucuronyltransferase (Crigler-Najjar syndrome type 1) usually causes a kemictems that is fatal shortly afterbirth. Inhibition of glucuronyltransferase... 

Jaundice of newborn Jaundice of prematurity Gilbert syndrome Crigler-Najjar syndrome... 

There may be failure of the liver to conjugate bilirubin as in physiological neonatal jaundice. Another condition where this occurs is Crigler-Najjar syndrome where there is a deficiency of the glucuronyl transferase system. In these conditions, the bilirubin is mainly of the unconjugated variety. 

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