Crigler-Najjar综合征Ⅰ型1例基因分析与文献复习

Genetic analysis and literature review of Crigler-Najjar syndrome type Ⅰ

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。

Objective To analyze the Uridine diphosphoglueuronyl transferase 1 A1 gene （UGT1A1） mutation in non-he- molytic indirect hyperbilirubinemia. Methods A 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 amplified by polymerase chain reaction and DNA was sequenced. Results The 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. Conclusions In patients highly suspected of CNS, the genetic tests should be carried out as soon as possible.