泉州地区72746例新生儿遗传代谢病串联质谱筛查回顾分析

Retrospective analysis of 72746 neonates results by tandem mass spectrometry screening for inherited metabolic disease in Quanzhou district

目的了解福建泉州地区近两年年遗传代谢病筛查概况,对该地区出生缺陷防控提供参考依据。方法回顾分析2014年1月至2015年12月泉州市儿童医院检验科新生儿疾病筛查中心72746例新生儿遗传代谢痛筛查结果,并对确诊的16例患儿进行分析。结果共筛查新生儿72 746例,其中可疑阳性1214例(1.7%),确诊16例(总发病率1/4547)。确诊氨基酸代谢病6例(37.5%),包括4例高苯丙氨酸血症及2例Citrin蛋白缺乏症;有机酸代谢病3例(18.75%),均为戊二酸血症I型;脂肪酸氧化代谢病7例(43.75%),均为原发性肉碱缺乏症。结论遗传代谢病在泉州地区人群中存在一定发病率,原发性肉碱缺乏症最常见,其次为高苯丙氨酸血症、戊二酸血症I型及Citrin蛋白缺乏症,应重视进行新生儿遗传代谢病筛查,以达到早诊断、早治疗的目的。

Objective： To investigate the prevalence of inherited metabolic diseases in Quanzhou between 2014 and 2015, and improve the awareness of clinicians and parents on inherited metabolic diseases. Methods： The screening results of neonatal inherited metabolic diseases between January 2014 to December 2015 were retrospectively evaluated and the 16 diagnosed patients were analyzed. Results： Among the 72 746 neonates, there were 1214 suspected positive samples and 16 cases were confirmed as having inborn errors of metabolism, including 6 with amino acidemias, 3 with organic acidemias and 7 with fatty acid oxidation disorders. The prevalence was 1/4547. In the 16 confirmed cases, four cases were diagnosed as hyperphenyiaianinemia, two cases were diagnosed as citrin deficiency, three cases were diagnosed as glutaric aciduria type I and seven cases were diagnosed as systemic primary carnitine deficiency. Conclusions： The prevalence of inherited metabolic diseases were relatively high in Quanzhou. Systemic primary carnitine deficiency might be the most common inherited metabolic disease, followed by hyperphenyiaianinemia, glutaric aciduria type I and citrin deficiency. We should recognize the importance of early screening for inherited metabolic disease and thus achive early diagnosis and early treatment.