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作 者:汤欣欣[1] 郑芹[1] 刘双[1] 刘华君[1] 张贵敏 钱俊楠[1] 顾莹[1] 王雷雷[1] TANG Xin-Xin;ZHENG Qin;LIU Shuang(Lianyungang Maternal and Child Health Hospital,Genetic Laboratory,Lianyungang,Jiangsu 222000,China)
机构地区:[1]连云港市妇幼保健院遗传实验室
出 处:《中国妇幼保健》2019年第24期5717-5720,共4页Maternal and Child Health Care of China
基 金:江苏省妇幼健康科研项目(F201756)
摘 要:目的探讨串联质谱技术在江苏省连云港地区用于新生儿遗传代谢病筛查的应用情况,初步了解该地区新生儿遗传代谢病发病率及病种分布情况,为该地区新生儿遗传代谢病的诊断与预防提供参考。方法应用串联质谱技术对连云港地区2015年1月-2017年12月出生的110 158例新生儿进行串联质谱遗传代谢病筛查,对可疑结果召回复查,复查依然阳性者进行尿蝶呤谱分析、尿质谱分析以及基因突变分析等明确诊断。结果共筛查110 158例新生儿,其中可疑阳性2 110例(1. 92%),确诊42例(总发病率1/2 622)。确诊病例共涉及14种疾病,包括苯丙酮尿症21例;高脯氨酸血症2例;甲基丙二酸血症3例;短链酰基辅酶A脱氢酶缺乏症4例;3-甲基巴豆先辅酶A羧化酶缺乏症2例;希特林蛋白缺乏症2例;瓜氨酸血症Ⅱ型、β-酮硫解酶缺乏症、戊二酸血症2型、中链酰基辅酶A脱氢酶缺乏症、原发性肉碱缺乏症、2-甲基丁酰基辅酶A脱氢酶缺乏症、枫糖尿症、异戊酸血症各1例。结论通过串联质谱筛查显示连云港市遗传代谢病的总发病率为1/2 622。遗传代谢病的早期筛查、诊断和治疗对受影响儿童的健康和生长至关重要。新生儿遗传代谢病串联质谱筛查在连云港市开展取得了良好的效果,为降低我市出生缺陷、提高人口素质做出了巨大贡献,值得各地区大力推广使用。Objective To investigate the value of tandem mass spectrometry in neonatal genetic metabolic diseases screening in Lianyungang,Jiangsu Province,and to understand the incidence as well as distribution of the inherited metabolic disease,and finally to provide a reference for diagnose and prevent the inherited metabolic disease in this area. Methods The technology of tandem mass spectrometry was used to screen 110 158 cases of newborns in the area of Lianyungang from January 2015 to December 2017. The suspicious positive newborns were called to reexamination,and still positive cases will be proceed the confirmatory diagnostic testing such as differential diagnosis for phenylketonuria and tetrahydrobiopterin( BH4) 、gas-chromatographic massspectrometry analysis for organic acids in urine and DNA analysis. Results Among the 110 158 cases,there were 2 210 suspected positive cases( 1. 92%),and 42 cases were confirmed diagnosis( total incidence of 1/2 622),including 21 cases of Phenylketonuria( PKU),2 cases of high prolyl hyperlipidemia,3 cases of methylmalonic acidemia,4 cases of short chain acyl-Co A dehydrogenase deficiency,2 cases of citrin deficiency,1 case of Citrullineemia type Ⅱ,1 case of β-Ketolytic enzyme deficiency,1 case of Glutaric acid type Ⅱ and 1 case of middle chain acyl-Co A dehydrogenase deficiency,1 case of primary carnitine deficiency,1 case of 2-methylbutyryl-Co A dehydrogenase deficiency,1 case of maple syrup urine disease,and 1 case of isovaleric academia. Conclusion The total incidence of genetic metabolic diseases was 1/2 622 in Lianyungang,screening by tandem mass spectrometry. Early diagnosis and treatment are crucial for the survival and well-being of affected children. The technology of tandem mass spectrometry used in neonatal inherited metabolic diseases screening has obtained a good effect,which made tremendous contributions in reducing birth defects and improving population quality in the city.
分 类 号:R22[医药卫生—中医基础理论]
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