摘要
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.
作者
郑泉志
林壹明
傅清流
ZHENG Quan-zhi LIN Yi-ming FU Qing-liu.(Neonatal Disease Screening Center of Quanzhou, Quanzhou Women's and Children' s Hospital, Quanzhou 362000, Chin)
出处
《中国优生与遗传杂志》
2017年第1期94-95,88,共3页
Chinese Journal of Birth Health & Heredity
关键词
遗传代谢病
串联质谱
筛查
Inherited metabolic diseases
Tandem mass spectrometry
Screening