CAJ | 학술논문

目的：探讨非溶血性高间接胆红素血症UGT1A1基因突变。方法1例女性黄疸患儿，排除溶血、甲状腺功能低下后，光疗治疗有效，苯巴比妥治疗无效，符合Ⅰ型Crigler-Najjar综合征（CNS-Ⅰ），应用聚合酶链反应扩增UGT1A1并进行DNA测序。结果患儿为c.1070A >G p.（Gln357Arg）及1091C>T p.（pro364Leu）复合杂合突变，确诊为CNS-Ⅰ。父母特定位点基因分析，均为杂合子。结论临床上高度怀疑CNS时，应尽早进行分子遗传学检查。
목적：탐토비용혈성고간접담홍소혈증UGT1A1기인돌변。방법1례녀성황달환인，배제용혈、갑상선공능저하후，광료치료유효，분파비타치료무효，부합Ⅰ형Crigler-Najjar종합정（CNS-Ⅰ），응용취합매련반응확증UGT1A1병진행DNA측서。결과환인위c.1070A >G p.（Gln357Arg）급1091C>T p.（pro364Leu）복합잡합돌변，학진위CNS-Ⅰ。부모특정위점기인분석，균위잡합자。결론림상상고도부의CNS시，응진조진행분자유전학검사。
ObjectiveTo analyze the Uridine diphosphoglucuronyl transferase 1 A1 gene (UGT1A1) mutation in non-he-molytic indirect hyperbilirubinemia.MethodsA female patient was diagnosed with type I Crigler-Najjar syndrome (CNS-I) after excluding hemolysis and hypothyroidism. Phototherapy treatment is effective while oral phenobarbital was not. UGT1A1 were ampliifed by polymerase chain reaction and DNA was sequenced.ResultsThe patient was compound heterozygote of c.1070A>G p. (Gln357Arg) and 1091C>T p. (pro364Leu) and diagnosed with CNS-I. Heterozygotes of the mutation were found in her parents.ConclusionsIn patients highly suspected of CNS, the genetic tests should be carried out as soon as possible.