臺大公衛學院-職醫與工衛所;臺大醫學院-小兒科;Mu, Shu-ChiShu-ChiMuChen, Yi-LingYi-LingChenTsai, Li-YiLi-YiTsaiShih, Yung-LuenYung-LuenShihChen, En-SungEn-SungChenHuang, Ching-ShanChing-ShanHuang2017-07-272018-07-112017-07-272018-07-112016http://ntur.lib.ntu.edu.tw//handle/246246/281229The 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, BaselGilbert's syndromeHyperbilirubinemiaMutationNeonate[SDGs]SDG3alanine; bilirubin; bilirubin glucuronide; glucuronosyltransferase 1A1; organic anion transporter 2; phenobarbital; proline; glucuronosyltransferase; UGT1A1 enzyme; allele; Apgar score; Article; bilirubin blood level; birth weight; case report; gene mutation; Gilbert disease; human; infant; male; neonatal hyperbilirubinemia; newborn intensive care; phototherapy; priority journal; respiratory distress; restriction fragment length polymorphism; genetics; hyperbilirubinemia; molecular genetics; mutation; newborn; nucleotide sequence; Base Sequence; Glucuronosyltransferase; Humans; Hyperbilirubinemia; Infant, Newborn; Male; Molecular Sequence Data; Mutation10.1159/000443365