铜梁地区新生儿40余种遗传代谢病筛查研究.docVIP

精品论文 参考文献 铜梁地区新生儿40余种遗传代谢病筛查研究 （重庆市铜梁区人民医院 重庆 402560） 　　【摘要】目的：对铜梁地区的新生儿进行40余种遗传代谢病进行筛查，初步了解铜梁地区新生儿遗传代谢病的发病率，为我县政府部门进行新生儿常见、危重遗传代谢性疾病防治决策提供依据。方法：使用串联质谱新技术对2014年8月至2015年7月在我区出生及就诊的新生儿提供46种遗传代谢病筛查和诊断服务，包括氨基酸代谢紊乱、有机酸代谢紊乱、脂肪酸代谢异常等。结果： 本研究共筛查1547例新生儿，发现可疑阳性28例，阳性率1.81%，确诊5例; 在筛查出的28例阳性病例中，17种氨基酸代谢病2例发病率为0.13%；14种有机酸血症2例发病率0.13%；14中脂肪酸氧化缺陷病1例，发病率0.06%，总确诊率为17.86%，总发病率为0.32%。3例患儿经治疗已无明显症状。所有患儿均接受规范治疗以及随访，诊治率为100%。结论：通过筛查研究初步得出铜梁地区新生儿遗传代谢病发病率，为政府部门进行疾病防治决策提供依据，并对阳性患者进行诊断和治疗研究。 　　【关键词】遗传代谢性疾病；新生儿疾病筛查；串联质谱 　　【中图分类号】R195 【文献标识码】A 【文章编号】1007-8231（2016）14-0218-02 　　Tongliang area newborn screening for inherited metabolic disease research, more than 40 species 　　【Abstract】Objective To neonatal Tongliang area were more than 40 kinds of inherited metabolic disease screening, a preliminary understanding of the incidence of neonatal tongliang area of genetic and metabolic diseases, neonatal department for my county common, severe inherited metabolic disease prevention and treatment provide the basis for decision-making.Method Tandem mass spectrometry using new technologies from August 2014 to July 2015 birth and treatment of newborns in our district 46 kinds of genetic metabolic disease screening and diagnostic services, including amino acid metabolism, organic acid metabolism, fatty acid metabolism, etc. Results The total of 1547 cases of neonatal screening, 28 cases of suspicious positive, the positive rate of 1.81%, diagnosed five cases; in 28 cases screened positive cases, two cases of 17 kinds of amino acid metabolism in disease incidence was 0.13%; 14 two cases of organic acids 0.13% incidence of hyperlipidemia; 14 deficiency in fatty acid oxidation in one case, the incidence rate of 0.06%, total diagnosis was 17.86%, the total incidence rate of 0.32%. 3 patients were treated no obvious symptoms. All patients were receiving standard treatment and follow-up, diagnosis and treatment rate of 100%.Conclusion The preliminary draw tongliang Ne