泉州地区高危婴幼儿遗传代谢病筛查及病例分析

Congenital genetic metabolic disease screening among high-risk infants and positive cases analyzing in Quanzhou district

目的了解福建泉州地区临床高危婴幼儿遗传代谢病的发生情况,为临床高危婴幼儿遗传代谢病的早期诊断和治疗提供帮助。方法对2013年9月至2014年5月在泉州市妇幼保健院·儿童医院就诊的78例疑似高危患儿,应用串联质谱技术进行遗传代谢病筛查,并对初筛可疑阳性病例进行尿气相质谱检测和基因分析。结果共检测临床高危患儿78例,确诊5例(阳性率6.4%),其中希特林蛋白缺乏症2例,异戊酸血症1例,戊二酸血症Ⅱ型1例,多种羧化酶缺乏症1例。结论福建泉州地区具有高危因素的婴幼儿人群中,遗传代谢病存在一定的发生率,高危婴幼儿进行遗传代谢病筛查意义重大。

Objective： To investigate the prevalence of congenital genetic metabolic disease among high-risk infants in Quanzhou, and facilitate early diagnosis and treatment to high-risk infants with congenital genetic metabolic disease. Methods.. 78 blood samples from high risk patients were screened by High liquid chromatography tandem mass spectrometry （HPLC/MS/ MS） in Quanzhou Women＇s and Children＇s Hospital during September 2013 to May 2014. Suspected positive samples were. clarified by urine gas chromatography/mass spectrometry and gene analysis. Results： Among the 78 neonates, 5 cases （6.4%） were found to be positive in our selective screening panel. For these 5 cases, two cases were diagnosed as citrin deficiency, one case was diagnosed as isovaleric hyperlipidemia, one case was diagnosed as glutaric acidemia type II, and one case was diagnosed as multiple carboxylase deficiency. Conclusions： The prevalence of congenital genetic metabolic disease is relatively high among high-risk infants in Quanzhou. Early screening for congenital genetic metabolic disease is essential to high-risk infants.