柳州地区Citrin蛋白缺乏症高危患儿串联质谱和基因分析及研究  

Analysis and research on high-risk infants with Citrin deficiency in Liuzhou

作　　者：陈大宇 谭建强 李哲涛 谢莉 严提珍 蔡稔 

机构地区：[1]柳州市妇幼保健院医学遗传科/柳州市出生缺陷预防与控制重点实验室,广西柳州545001

出　　处：《中国优生与遗传杂志》2017年第11期7-9,共3页Chinese Journal of Birth Health & Heredity

基　　金：柳州市科学研究与技术开发计划项目研究成果资助(2014G020404);广西壮族自治区卫计委项目(Z2016548)

摘　　要：目的通过对柳州地区高危儿希特林蛋白缺乏症患儿串联质谱及基因结果分析,了解希特林蛋白缺乏症在该地区发病率以及串联质谱技术筛查的应用价值。方法 2012年10月至2016年10月本院住院及门诊疑似遗传代谢疾病就诊高危患儿2634例,运用串联质谱技术筛查,疑似患者进一步经基因测序确诊希特林蛋白缺乏症患者,并结合患者基因与生化指标水平,对患者进行随访治疗。结果确诊希特林蛋白缺乏症7例。确诊组对象生化指标总胆红素(BILIT)、谷丙转氨酶(ALT)、血糖(GLU),以及串联质谱指标瓜氨酸(CIT)、甲硫氨酸(MET)、酪氨酸(TYR)水平,与对照组对象比较,存在显著性差异(P<0.01)。结论运用串联质谱技术筛查及基因测序手段确诊,可以早期诊断不同突变的希特林蛋白缺乏症,特别在高危儿诊疗疾病过程,可为临床诊疗提供有力依据和方向。Objective：To know about the incidence and the appliance value of tandem mass spectrometry in the screening of citrin deficiency in Liuzhou area,by analyzing the results of tandem mass and gene sequencing in the high-risk infants of Citrin deficiency in this area. Methods：2634 potential high-risk inherited metabolic disorder infants from inpatient department and outpatient clinic were screened by tandem mass spectrometry during 2012.10 to 2016.10. Potential Citrin deficiency patients were next confirmed by gene sequencing. Confirmed patients were in the follow-up therapy which takes the levels of gene and biochemical indexes into consideration. Results：7 Citrin deficiency patients were confirmed. Compared with control group,there are significant differences in the levels of biochemical indexes such as total bilirubin（BILIT）,Alanine aminotransferase（ALT）,blood glucose（GLU）and tandem mass indexes such as citrulline（CIT）methionine（MET）,tyrosine（TYR）（P〈0.01）. Conclusion：Screened by tandem mass spectrometry and then confirmed by gene sequencing,different mutations of Citrin deficiency can be diagnosed in early times,especially in the treating process of high-risk infants. This can strongly provide basis and direction in clinical treatment.

关 键 词：串联质谱 基因 CITRIN 蛋白缺乏症 高危儿 

分 类 号：R725.9[医药卫生—儿科]