婴儿肝炎综合征合并遗传代谢病临床分析

Clinical Analysis of Infantile Hepatitis Syndrome Complicated with Inborn Errors of Metabolism

目的:对婴儿肝炎综合征进行临床高危筛查,观察有无有机酸代谢异常。方法:对确诊婴儿肝炎综合征的患儿进行临床分析,高危儿进行尿片气相质谱GC/MS分析,血片串联质谱分析。结果:确诊遗传代谢病患儿3例,其中丙酸血症1例,尿素循环障碍、瓜氨酸血症1例,尿素循环障碍、有机酸尿症1例。结论:对于婴儿肝炎综合征应积极寻找其病因,对于反复代谢性酸中毒、高氨血症、低血糖等的高危儿应检测血尿有机酸。

Objective： To screen infantile hepatitis syndrome, so as to provide evidences for diagnosis of inborn errors of metabolism. Methods： Analyzing of infantile hepatitis syndrome, urines and bloods samples of patients suspected to have inborn errors of metabolism were collected using gas chromatography-mass spectrometry and tandem mass spectrometry. Result： 3 cases of inborn errors of metabolism were diagnosis, 1 ease of propionic acidemia, 1 ease of disorder of urea circulation, citrullinemia, 1 case of disorder of urea circulation, organic aciduria. Conclusion： Etiology of infantile hepatitis syndrome should be found, analysis of organic acid of urine and blood samples are necessary to patients with acidosis, hyperammonemia and hypoglycemia.