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目的探讨串联质谱技术在遗传代谢病筛查和诊断中的意义,初步了解江苏省盐城市新生儿遗传代谢病发病率及病种分布情况。方法对盐城市2014年6月至2015年6月所有参与新生儿疾病筛查的新生儿在出生72h后充分哺乳,由专业医务人员采集足跟血制成滤纸干血片样本,应用串联质谱技术和非衍生化实验方法,检测样品中的氨基酸、酰基肉碱、琥珀酰丙酮等指标,筛查氨基酸、有机酸、脂肪酸氧化代谢病等27种疾病,对可疑结果进行复检和召回复查,对高度可疑结果进行确诊和跟踪随访。结果共筛查新生儿78904例,其中可疑阳性693例(0.9%),确诊18例,发病率1/4384。其中高苯丙氨酸血症10例,发病率1/7890;高脯氨酸血症3例,发病率1/26301;原发性肉碱缺乏症、瓜氨酸血症I型、甲基丙二酸血症、短链酰基辅酶A脱氢酶缺乏症、异丁酰辅酶A脱氢酶缺乏症各1例,发病率分别为1/78904,此外发现有明显生化表现的高苯丙氨酸血症致病突变携带者2例和原发性肉碱缺乏症致病突变携带者1例。结论应用串联质谱技术进行新生儿筛查可及时发现遗传代谢病患儿,具有一次检测同时筛查多种疾病的特点,这对降低本地出生人口缺陷,提高出生人口素质,是十分必要的。
Objective To explore the significance of tandem mass spectrometry in the screening and diagnosis of genetic metabolic diseases and to understand the prevalence and distribution of the inherited metabolic diseases in newborn infants in Yancheng, Jiangsu Province. Methods All newborns involved in neonatal screening in Yancheng from June 2014 to June 2015 were breastfeeding 72h after birth. Dry blood samples of heel blood were collected by professional medical staff and dried by tandem mass spectrometry And non-derivatization test methods to detect 27 amino acids, acylcarnitine, succinyl acetone and other indicators of the sample screening of 27 kinds of diseases, such as amino acids, organic acids, fatty acid metabolism of the disease, the suspicious results were rechecked and recalled, Highly suspicious findings were confirmed and followed up. Results A total of 78 904 newborns were screened, of which 693 (0.9%) were suspicious positive and 18 were diagnosed with a prevalence of 1/4384. Including hyperphenylalaninemia in 10 cases, the incidence of 1/7890; hyperprolactinemia in 3 cases, the incidence of 1 / 26,301; primary carnitine deficiency, citrullinated type I, methyl 1 case of malonyl-2-anemia, 1 case of short chain acyl-CoA dehydrogenase deficiency and 1 case of isobutyryl-CoA dehydrogenase deficiency respectively, the incidence rates were 1/78904 respectively. In addition, 2 cases of pathogenic mutations in acidosis and 1 cases of carriers of pathogenic mutations in primary carnitine deficiency. Conclusion The application of tandem mass spectrometry in neonatal screening can detect children with inherited metabolic diseases in a timely manner, and has the characteristics of screening and screening a variety of diseases simultaneously. This is necessary to reduce the birth defects of the local population and improve the quality of the birth population.