Crigler-Najjar综合征Ⅱ型2例报道并文献复习

Two case reports of Crigler-Najjar syndrome typeⅡand literature review

目的确定2例黄疸患儿的病因及基因突变类型。方法根据黄疸诊疗思路确定2例患儿均为先天性高间接胆红素血症,分别采集2例患儿及其父母的外周血,针对尿甘二磷酸葡萄糖醛酸转移酶1A1(UGT1A1)基因进行DNA测序。结果UGT1A1基因分析结果显示,患儿1存在c.1456T>G(Y486D)纯合突变,患儿2存在c.1456T>G(Y486D)、c.1268T>G p.(Leu423*)双重杂合突变,c.1268T>G为未报道的基因突变位点。结论患儿1、2均确诊为Crigler-Najjar综合征(CNS)Ⅱ型。

Objective To determine the etiology and type of gene mutation in two children with jaundice.Methods According to the idea of jaundice diagnosis and treatment,the two cases were both diagnosed as congenital hyperindirect bilirubinemia.Peripheral blood samples of the two children and their parents be collected respectively,and DNA sequencing was performed on the urinary glyceride diphosphate glucuronidase(UGT1A1)gene.Results The analysis of UGT1A1 gene in the two children found that the first case had homozygous mutation of c.1456T>G(Y486D),while the second case had a complex heterozygous mutation of c.1456T>G(Y486D)and c.1268T>G,p.(Leu423*)which had not been reported.Conclusion The two children both were diagnosed with Crigler-Najjar syndrome(CNS)typeⅡ.