Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism

Biology of the Neonate

Volumn 90, Issue 4, 2006, Pages 243-246

  Berardi, Alberto ^a   Lugli, Licia ^a   Ferrari, Fabrizio ^a   Gargano, Giancarlo ^a   D'Apolito, Maria ^c   Marrone, Agnese ^b   Iolascon, Achille ^b  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY OF FOGGIA   (Italy)

Author keywords

Gilbert syndrome; Hereditary spherocytosis; Hyperbilirubinaemia; Kernicterus; Newborn

Indexed keywords

BILIRUBIN; ERYTHROCYTE BAND 3 PROTEIN; GLUCURONOSYLTRANSFERASE 1A1; MIDAZOLAM; PHENOBARBITAL;

ANION EXCHANGE; ARTICLE; BILIRUBIN METABOLISM; CASE REPORT; CAUCASIAN; DISEASE ASSOCIATION; DNA POLYMORPHISM; EXCHANGE BLOOD TRANSFUSION; HEMOLYTIC ANEMIA; HEREDITARY SPHEROCYTOSIS; HUMAN; KERNICTERUS; MALE; METABOLIC DISORDER; NEWBORN; NEWBORN JAUNDICE; PHOTOTHERAPY; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SEIZURE;

BILIRUBIN; GLUCURONOSYLTRANSFERASE; HEMATOCRIT; HUMANS; INFANT, NEWBORN; KERNICTERUS; MALE; PEDIGREE; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); SPHEROCYTOSIS, HEREDITARY;

EID: 33751180786     PISSN: 00063126     EISSN: None     Source Type: Journal    
DOI: 10.1159/000093668     Document Type: Article

References (12)

1. Ebbesen F: Recurrence of kernicterus in term and near-term infants in Denmark. Acta Pediatr 2000;89:1213-1217.
2. Maisels MJ, Newman TB: Kernicterus in otherwise healthy, breast-fed, term newborns. Pediatrics 1995;96:730-733.
3. Hansen TWR: Kernicterus in term and nearterm infants - the specter walks again. Acta Pediatr 2000;89:1155-1157.
4. Buthani VK, Johnson L, Sivieri EM: Predictive ability of a predischarge hour-specific serum bilirubin for subsequent significant hyperbilirubinemia in healthy term and near term infants. Pediatrics 1999;103:6-14.
5. 8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome. Haematologica 1999;84:106-109.
6. Tsezou A, Tzetis M, Kitsiou S, Kavazarakis E, Galla A, Kanavakis E: A caucasian boy with Gilbert's syndrome heterozygous for the (TA)(8) allele. Haematologica 2000;85:319-320.
7. 8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert syndrome. Pediatr Hematol Oncol 2004;21:371-374.
8. Beutler E, Gelbart T, Demina A: Racial variability in the UDP-glucorunosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? Proc Natl Acad Sci USA 1998;95:8170-8174.
9. Iolascon A, Faienza MF, Moretti A, Perrotta S, Miraglia del Giudice E: UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. Blood 1998;91:1093.
10. Bancroft JD, Kreamer B, Gourley GR: Gilbert syndrome accelerates development of neonatal jaundice. J Pediatr 1998;132:656-660.
11. Iolascon A, Miraglia del Giudice E, Perrotta S, Alloisio N, Morle L, Delaunay J: Hereditary spherocytosis: from clinical to molecular defects. Haematologica 1998;83:240-257.
12. Kaplan M, Hammerman C: Bilirubin and the genome: the hereditary basis of unconjugated neonatal hyperbilirubinemia. Curr Pharmacogenomics 2005;3:21-42.