A Case of Gilbert's Syndrome with Severe Neonatal Hyperbilirubinemia.
10.5385/jksn.2010.17.2.266
- Author:
Ye Seul HONG
1
;
Jang Yong JIN
;
Woo Ryoung LEE
Author Information
1. Department of Pediatrics, Soonchunhyang University Hospital, Seoul, Korea. neolee@schmc.ac.kr
- Publication Type:Case Report
- Keywords:
Gilbert disease;
Gilbert's syndrome;
Newborn;
Hyperbilirubinemia
- MeSH:
Bilirubin;
Exons;
Gilbert Disease;
Glucuronosyltransferase;
Heterozygote;
Humans;
Hyperbilirubinemia;
Hyperbilirubinemia, Neonatal;
Infant, Newborn;
Jaundice;
Korea;
Parturition;
Phenobarbital;
Phototherapy;
Promoter Regions, Genetic;
Uridine Diphosphate
- From:Journal of the Korean Society of Neonatology
2010;17(2):266-269
- CountryRepublic of Korea
- Language:English
-
Abstract:
Gilbert's syndrome is caused by a reduction in the activity of uridine diphosphate glucuronosyltransferase (UGT) and induces chronic, non-hemolytic unconjugated hyperbilirubinemia. It has been suggested that 3-10% of the population has Gilbert's syndrome. Commonly, Gilbert's syndrome causes mild symptoms. However, a case of Gilbert's syndrome with severe neonatal hyperbilirubinemia is presented here. The patient developed jaundice three days after birth. Five days after birth, the patient's total serum bilirubin level was 34 mg/dL. The patient received intensive phototherapy and was given oral phenobarbital. Hemolytic hyperbilirubinemia was excluded on the basis of laboratory tests. Heterozygote polymorphisms of the promoter region (-3279T>G) and exon 1 (211G>A) were found in UGT1A1 gene. After discharge, the patient did not require any further treatment. This is the first case of proven Gilbert's syndrome with severe neonatal hyperbilirubinemia in Korea.
