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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 understand the general situation of genetic metabolic diseases screening in Quanzhou in Fujian Province in recent two years and provide reference for the prevention and control of birth defects in this area. Methods A retrospective analysis was conducted on 72,746 neonatal screening tests of genetic metabolic pain in the Newborns’ Disease Screening Center of Quanzhou Children’s Hospital from January 2014 to December 2015 and the 16 confirmed cases were analyzed. Results A total of 72 746 newborns were screened, of which 1214 (1.7%) were suspected positive and 16 were diagnosed (total incidence 1/4547). 6 cases (37.5%) diagnosed with amino acid metabolism were diagnosed, including 4 cases of hyperphenylalaninemia and 2 cases of Citrin deficiency; 3 cases of organic acid metabolism (18.75%), all of which were glutaric acid type I; Fatty acid metabolism in 7 cases (43.75%), are primary carnitine deficiency. Conclusions There is a certain incidence rate of genetic metabolic disease in Quanzhou population. The most common incidence of primary carnitine deficiency is hyperphenylalaninemia, glutaraldehyde type I and citrin deficiency, which should be emphasized Neonatal genetic metabolic disease screening in order to achieve the early diagnosis and early treatment purposes.