Home > Journals > Minerva Pediatrica > Past Issues > Minerva Pediatrica 2005 April;57(2) > Minerva Pediatrica 2005 April;57(2):53-64

CURRENT ISSUE
 

JOURNAL TOOLS

eTOC
To subscribe
Submit an article
Recommend to your librarian
 

ARTICLE TOOLS

Reprints
Permissions

 

REVIEWS   

Minerva Pediatrica 2005 April;57(2):53-64

Copyright © 2005 EDIZIONI MINERVA MEDICA

language: Italian

Inherited disorders of bilirubin metabolism

Rossi F., Francese M., Iodice R. M., Falcone E., Vetrella S., Punzo F., De Vita S., Perrotta S.


PDF


Jaundice in an infant or older child may reflect accumulation of either unconjugated or conjugated bilirubin and could be related to inherited bilirubin disorders. Three grades of inherited unconjugated hyperbilirubinemia are recognised in humans. This spectrum of disorders is distinguished primarily on the basis of the plasma bilirubin level, the response to phenobarbital administration, and the presence or absence of bilirubin glucoronides in bile. The enzyme responsible for the conjugation of bilirubin is the bilirubin uridine-diphosphate-glucuronosyltransferase (UGT). Mutations in the gene encoding bilirubin-UGT (UGT1A1), lead to complete or partial inactivation of the enzyme causing the rare autosomal recessively inherited conditions, Crigler-Najjar syndrome type 1 (CN-1) and type 2 (CN-2). Gilbert syndrome (GS) is due to an insertional mutation at homozygous state of the TATAA element (seven TA repeats) of UGT1A1 producing a reduced level of expression of the gene. The association of GS with haemolytic anemias, e.g., Hereditary Spherocytosis (HS) or Congenital Dyserythropoietic Anemia type 2 (CDA 2), increase the hyperbilirubinemia level and the risk of cholelithiasis. Forms of cronic conjugated hyperbilirubinemia are Dubin-Johnson syndrome, Rotor syndrome, Alagille syndrome or arteriohepatic dysplasia, Wilson disease or hepatolenticular degeneration. Liver or liver cell transplantation is the therapy in some cases.

top of page