Citrin蛋白缺陷所致新生儿肝内胆汁淤积症酰基肉碱谱分析

Acylcarnitine spectrum analysis of the neonatal intrahepatic cholestasis caused by citrin deficiency

目的分析新生儿肝内胆汁淤积症(NICCD)患儿的酰基肉碱谱,了解NICCD患儿脂肪酸代谢特点。方法收集经临床及SLC25A13基因突变分析确诊的25例NICCD患儿治疗前空腹血浆,采用液相色谱串联质谱技术检测血浆游离肉碱与酰基肉碱谱,并根据各种肉碱与酰基肉碱及其同位素内标离子峰的强度,由已知浓度的内标,自动计算出所测样品酰基肉碱浓度;以100例正常健康儿童作为对照进行分析比较。结果 NICCD患儿治疗前血浆游离肉碱、长链酰基肉碱水平明显高于正常健康儿童,中链酰基肉碱水平明显低于正常健康儿童,差异均有统计学意义(P均<0.05)。结论NICCD患儿存在脂肪酸代谢异常,血浆游离肉碱、长链酰基肉碱水平升高,中链酰基肉碱水平下降。

Objective To analyze the plasma acylcarnitine spectrum by the isotope labeling-electrospray ionization tandem mass spectrometry （ESI-MS/MS）, to understand the characteristics of the fatty acid metabolism in children with neonatal intrahepatic cholestasis （NICCD）. Methods Twenty-five fasting blood samples were collected before treatments from children with NICCD confirmed by the clinical manifestations and the SLC25A13 gene mutation analysis. The liquid chromatography tandem mass spectrometry was used to detect the plasma free carnitine and acylcarnitine spectrum. The internal standard with known concentrations of various carnitine and acylcarnitine was used and, based on their isotopic peaks of intensity in internal standard, the carnitine and acylcarnitine concentration in the samples were automatically calculated. One hundred fasting blood samples from healthy children were collected as control. Results Compared with control group, plasma free camitine and long-chain acylcarnitine levels were significantly higher while the medium-chain acylcarnitine level was significantly lower in children with NICCD before treatments. The difference was statistically significant （P〈0.05）. Conclusions Children with NICCD have abnormal fatty acid metabolism, the rise in plasma free carnitine and long-chain acylcarnitine and the decline in plasma medium-chainacvlcarnitine.