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A Case of Gilbert's Syndrome with Severe Neonatal Hyperbilirubinemia
Journal of the Korean Society of Neonatology ; : 266-269, 2010.
Article Dans Anglais | WPRIM | ID: wpr-134720
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.
Sujets)

Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Phénobarbital / Photothérapie / Uridine diphosphate / Bilirubine / Exons / Régions promotrices (génétique) / Glucuronosyltransferase / Parturition / Hyperbilirubinémie néonatale / Maladie de Gilbert Limites du sujet: Humains / Nouveau-né Pays comme sujet: Asie langue: Anglais Texte intégral: Journal of the Korean Society of Neonatology Année: 2010 Type: Article

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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Phénobarbital / Photothérapie / Uridine diphosphate / Bilirubine / Exons / Régions promotrices (génétique) / Glucuronosyltransferase / Parturition / Hyperbilirubinémie néonatale / Maladie de Gilbert Limites du sujet: Humains / Nouveau-né Pays comme sujet: Asie langue: Anglais Texte intégral: Journal of the Korean Society of Neonatology Année: 2010 Type: Article