血酰基肉碱在Citrin缺陷致新生儿肝内胆汁淤积症诊断中的价值

Value of Haemoacyl carnitine changes in diagnosis of neonatal intrahepatic cholestasis caused by Citrin deficiency

目的 探讨Citrin缺陷致新生儿肝内胆汁淤积症(NICCD)患儿血串联质谱检测酰基肉碱水平变化在诊断中的价值。方法 回顾分析自2016年至2018年3年间,在我院确诊胆汁淤积症患儿相关临床资料,共144例,其中巨细胞病毒感染(CMV)致肝内胆汁淤积症组93例,先天性胆道闭锁(BA)组40例,及NICCD组11例;并对各组患儿的血酰基肉碱水平及部分生化结果进行统计分析。结果 与CMV组相比,NICCD组及BA组游离肉碱水平升高;与BA组、CMV组相比,NICCD组的部分长链酰基肉碱水平明显升高;与BA组、CMV组相比,NICCD组直接胆红素、间接胆红素多同时升高,且胆红素比趋近1:1;以上差异均具有统计学意义(P<0.05)。结论 儿童不同原因所致胆汁淤积症的血酰基肉碱具有差异性,NICCD患儿部分长链酰基肉碱水平明显升高,且胆红素比具有差异性,有助早期鉴别。

Objective To explore the diagnostic value of the changes of Haemoacyl carnitine level in neonatal intrahepatic cholestasis caused by Citrin deficiency(NICCD).Methods The clinical relevant data of 144 children with cholestasis diagnosed in our hospital during the 3 years from 2016 to 2018 were retrospectively analyzed;There were 93 cases of intrahepatic cholestasis caused by cytomegalovirus infection(CMV),40 cases of congenital biliary atresia(BA),and 11 cases of NICCD.The level of Haemoacyl carnitine and some biochemical results of children in each group were analyzed.Results Compared with CMV group,the level of free carnitine increased in NICCD group and BA group.Compared with BA group and CMV group,part of long-chain acylcarnitine in NICCD group was significantly increased.Compared with BA group and CMV group,the direct bilirubin and indirect bilirubin in NICCD group increased at the same time,and the bilirubin ratio approached 1:1,the above difference was statistically significant(P<0.05).Conclusion Haemoacyl carnitine of cholestasis caused by different reasons in children is differen,and the level of some long-chain acylcarnitine in children with NICCD is significantly increased,and the bilirubin ratio is different,which is helpful for early identification.