Crigler-Najjar syndromes

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). 

PBREM, phenobarbital-responsive enhaneer module Gilbert, Gilbert syndrome CN2, Crigler-Najjar syndrome type II. 

Aono S, Yamada Y, Keino Het al. Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II. Biochem Biophys Res Commun 1993 197 1239-1244. 

Costa E. Hematologically important mutations bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes. Blood Cells Mol Dis 2006 36(l) 77-80. 

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

Crigler-Najjar Syndrome Mutations in the UGT1A1 gene... 

Deficiency of UGT leads to ineffective esterification of bihrubin, which in turn results in an unconjugated hyperbUirubinaemia. Reduced bilirubin conjugation, as a result of a decreased or absent UGT activity, is found in a number of acquired conditions and inherited diseases, such as Crigler-Najjar syndrome (types I and II) and Gilbert syndrome. Bilirubin-conjugating activity is also very low in the neonatal liver. 

Crigler-Najjar syndrome Dubin-Johnson syndrome... 

Three inherited disorders of bilirubin metabolism are associated with defects in bilirubin UGT-1 activity Gilbert s syndrome, and Crigler-Najjar syndrome types I and II. Dubin-Johnson syndrome is due to a defect in the protein pump that extrudes bilirubin from the hepatocyte... 

Gilbert s syndrome Type 1 Crigler-Najjar syndrome Type II Crigler-Najjar syndrome Dubin-Johnson syndrome Rotor s syndrome... 

Disorders of bilirubin metabolism Gilbert s syndrome Dubin—Johnson syndrome Crigler—Najjar syndrome... 

Gollan, J.L., Huang, S.M., Billing, B.H., Sherlock, S. Prolonged survival in three brothers with severe typ 2 Crigler-Najjar syndrome. Ultra-structural and metabolic studies. Gastroenterology 1975 68 1543-1555... 

G.H. Crigler-Najjar syndrome in four of five siblings with postmortem findings in one. Arch. Pathol. 1970 90 536 - 542... 

Robertson, K.J., Clarke, D., Sutherland, L., Wooster, R., Coughtrie, M.W.H., Burchell, B. Investigation of the molecular basis of the genetic deficiency of UDP-glucuronosyltransferase in Crigler-Najjar syndrome. J. Inher. Metab. Dis. 1991 14 563-579... 

Indications for the transplantation of hepatocytes predominantly involve those liver diseases in which functional failures occur in the liver cells (not in the bile ducts). Permanent transplantation would be indicated, for example, in order to eliminate congenital metabolic disorders of the liver cells. In this case, hepatocytes from the patient could be used, with subsequent elimination of the defect by gene technology, as well as hepatocytes from healthy donors. A few years ago, a therapeutic effect lasting for over one year was achieved for the first time in a girl suffering from the Crigler-Najjar syndrome (I. X Fox et af, 1998). Human hepatocytes are most definitely more suitable than animal liver cells. The latter may well meet the requirements for a provisional substitute, but not for permanent transplantation. 

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