Citrin缺陷致新生儿肝内胆汁淤积症患儿生化改变研究

Research in the biochemical characterof the 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)患儿生化改变特征。方法对经基因学确诊且平均月龄为3个月的26例NICCD患儿进行常规生化检查、气相色谱质谱检查及串联质谱检查并分析。结果 NICCD患儿血清总胆红素、直接胆红素、谷草转氨酶、谷丙转氨酶及乳酸水平升高均占100%,血氨及甲胎蛋白水平升高均占95.2%,胆汁酸水平升高占90.0%,低蛋白水平占84.0%,血脂水平升高占50%。半乳糖增高占78.3%,4-羟基苯乳酸增高占52.2%。C14增高占84.7%,C16增高占71.4%,瓜氨酸增高占66.7%。结论 NICCD患儿存在糖,氨基酸及脂肪酸代谢异常,以半乳糖、瓜氨酸及长链酰基肉碱增高明显。

Objective： To investigate the biochemical character of neonatal intrahepatic cholestasis caused by eitfin deficiency （NICCD）. Methods： 26 patients of NICCD whose average age were 3 months diagnosed by SLC25A13 mutation analysis were studied. All the patients accepted the routine laboratory examination, gas chromatography mass spectrometry and tandem mass spectrometry. Results： Biochemical tests revealed that the serum total bilirubin, direct bilirubin, aspartate aminotransferase, pyruvie transaminase and lactic acid were increased in all eases. The levels of blood ammonia and AFP had increased 95.2% , bile acid and blood lipid had increased 90. 0% and 50% respectively. The low blood protein level was found increased in 84. 0%. The levels of galaetose and 4 - hydroxyphenyllaetic acid had increased 78.3% and 52. 2% respectively. The levels of C14 - carnitine, C16 - earnitine and citrulline had increased 84. 7% , 71.4% and 66. 7% respectively. Conclusions： There exist significant metabolism disorders in glucose, amino acids and fatty acid in patients with NICCD, with galaetose, citrulline and long - chain acylcarnitines increased obviously.