新生儿和危重儿串联质谱技术应用的研究

Clinical research of tandem mass spectrometry application in newborn and critically ill children

目的了解串联质谱技术在新生儿和危重儿的遗传代谢性疾病筛查中的作用。方法采用串联质谱分析检测方法,对13560例茂名市妇幼保健院出生的新生儿以及危重儿进行45种先天性氨基酸、脂肪酸、有机酸代谢异常等代谢性疾病的筛查,并对可疑阳性病人进行召回确诊并治疗,预后及随访情况分析。结果疑诊病例502例,确诊9例,其中包括希特林缺陷症3例,苯丙酮尿症2例,尿素循环障碍(鸟氨酸氨甲酰磷酸转移酶缺乏症,OTC)2例,枫糖尿症1例,原发性游离肉碱缺乏症1例。所有确诊病例均进行治疗以及随访,其中1例尿素循环障碍以及枫糖尿症患者因合并重症感染,多器官功能衰竭死亡,1例原发性肉碱缺乏症患者体格发育落后,1例OTC患者存在发作性高氨血症外,其余病人均未出现神经系统严重后遗症以及体格发育障碍等后遗症。结论遗传代谢病在茂名地区有一定的发生几率。在新生儿和危重儿开展串联质谱筛查,有利于该类疾病的早期诊断、早期治疗。

Objective Objective To investigate the effect of tandem mass spectrometry on inherited metabolic diseases screening of newborn and critically ill children .Methods 13560 cases born in our hospital neonatal and critically ill children were selecte .The tandem mass spectrometry detection methods were used to detected 45 congenital amino acid ,fatty acid and organic acid metabolism ab-normal metabolic disease screening to ,and suspicious positive patients were recalled and treated ,the prognosis and follow -up analysis were made .Results 502 cases of suspected cases ,9 cases were diagnosed ,including 3 cases of NICCD;2 cases of deficiency phenylke-tonuria,2 cases of urea cycle disorders （ornithine carbamoyl phosphate transferase deficiency ,OTC）;1 case of maple syrup urine dis-ease,and 1 case of primary free carnitine deficiency .All of the confirmed cases were given the treatment and were followed up;among those cases,there was 1 cases of urea cycle disorders and maple syrup urine disease patients with severe infection ,multiple organ failure and death ,1 cases of primary carnitine deficiency in patients with physical retardation ,1 cases of patients with OTC exist episodes of hy-perammonemia is outside ,the rest of the patients did not appear nervous system sequelae of severe and physical developmental disorders etc.sequelae.Conclusion Maoming area,inherited metabolic disease incidence rate is not low .Inherited metabolic diseases screening of newborn and critically ill children is useful for early diagnosis and treatment .