|Title:||Prolonged Hyperbilirubinemia in a Neonate with a Novel Mutation in the UDP-glucuronosyltransferase 1A1 Gene||Authors:||Mu, Shu-Chi
|Keywords:||Gilbert's syndrome;Hyperbilirubinemia;Mutation;Neonate||Issue Date:||2016||Journal Volume:||109||Journal Issue:||3||Start page/Pages:||235-238||Source:||Neonatology||Abstract:||
The total bilirubin value of a male infant was 385 mu mol/l on day 5. Liver function test results were normal and there was no evidence of sepsis and no hemolysis reaction. Phototherapy was administered and on day 8 the patient's total bilirubin level was 255 mu mol/l. Intermittent episodes of hyperbilirubinemia occurred without phototherapy, with the total bilirubin level reaching 335 mu mol/l on day 19. A 3-day regimen of phenobarbital was administered and on day 24 his total bilirubin level was 180 mu mol/l. The patient was discharged. At the age of 2 months, the total bilirubin value was 27 mu mol/l. His direct bilirubin value was <15% of total bilirubin in every determination. A family study of the UDP-glucuronosyltransferase (UGT) 1A1 gene showed that the infant carries a homozygous mutation at nucleotide -3279 plus compound heterozygous mutations at nucleotides 782 and 1091. The mutation at nucleotide 782 is a novel finding. Gilbert's syndrome was diagnosed. (C) 2016 S. Karger AG, Basel
|Appears in Collections:||醫學系|
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