KMID : 0438520100170020266
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Journal of the Korean Society of Neonatology 2010 Volume.17 No. 2 p.266 ~ p.269
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A Case of Gilbert¡¯s Syndrome with Severe Neonatal Hyperbilirubinemia
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Hong Ye-Seul
Jin Jang-Yong Lee Woo-Ryoung
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Abstract
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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.
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KEYWORD
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Gilbert disease, Gilbert¡¯s syndrome, Newborn, Hyperbilirubinemia
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