J Korean Soc Neonatol.  2010 Nov;17(2):266-269.

A Case of Gilbert's Syndrome with Severe Neonatal Hyperbilirubinemia

Affiliations
  • 1Department of Pediatrics, Soonchunhyang University Hospital, Seoul, Korea. neolee@schmc.ac.kr

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.

Keyword

Gilbert disease; Gilbert's syndrome; Newborn; Hyperbilirubinemia

MeSH Terms

Bilirubin
Exons
Gilbert Disease
Glucuronosyltransferase
Heterozygote
Humans
Hyperbilirubinemia
Hyperbilirubinemia, Neonatal
Infant, Newborn
Jaundice
Korea
Parturition
Phenobarbital
Phototherapy
Promoter Regions, Genetic
Uridine Diphosphate
Bilirubin
Glucuronosyltransferase
Phenobarbital
Uridine Diphosphate
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