广宁地区新生儿遗传代谢病筛查结果及临床表现分析

Clinical analysis and screening results of newborngenetic metabolic disease in Guangning region

目的:回顾分析2010年10月至2015年10月广宁地区新生儿遗传代谢病发病情况,为今后本地区遗传代谢病筛查普及提供理论依据。方法:对2010年10月至2015年10月期间于本院出生的新生儿8238例(其中高危儿512例)遗传代谢病筛查结果资料进行回顾分析。结果:出现阳性患儿24例,阳性率为0.29%,其中18例属于高危儿,阳性率为3.51%。结论:广宁地区遗传代谢病发病率与全国各地区接近,其中高危儿阳性率更高,串联质谱适合在遗传代谢病筛查及诊断中广泛推广。

Object：Retrospective analyzedincidenceof neonatalgenetic and metabolic diseases withinOctober 2010 to October 2015of Guangning,in order to provide a theoreticalbasisfor futurescreening ofinherited metabolic diseasesm this region.Methods：SelectedlEM screeningresults of 8238 cases October 2010 to October 2015 inour hospital（where512 cases ofhigh-riskchildren）were retrospectiveanalyzed.Result：24 cases of children with positive（0.29%）,18 cases belong to high-risk infants（3.51%）.Conclusion：IEM incidence of Guangning region was closed to other regions in China,high-risk infants higher positive rate,MS/MS can be widely usedto diagnose and treat IEM screening.