串联质谱和气相色谱技术在新疆地区高危儿遗传代谢病临床筛查诊断中的应用研究

Application of tandem mass spectrometry and gas chromatography in clinical screening and diagnosis of genetic and metabolic diseases in high-risk children in Xinjiang

目的应用串联质谱和气相色谱技术对新疆地区高危儿遗传代谢病结果进行分析,了解该地区遗传代谢病的发病率、临床特点,为临床医师提供诊疗依据。方法选取2014年1月-2019年4月该院临床上高度怀疑遗传代谢病的高危儿2500例为研究对象,应用气相色谱和串联质谱方法进行血液和尿液分析。结果2500例患儿中检测出219阳性病例(阳性率为8.76%),其中男119例,女100例。新生儿期发病80例(36.53%),<1岁84例(38.36%),1~12岁55例(25.11%),并且通过检测发现氨基酸、有机酸及脂肪酸氧化代谢病共18项病种。其中各种氨基酸水平高118例(53.88%),各种有机酸水平高84例(38.36%),各种脂肪酸氧化缺陷病17例(7.76%)。结论临床上通过临床表现及各种实验室检查不能明确病因的疑似遗传代谢病的高危患儿应用串联质谱和气相色谱技术进行筛查可及时发现遗传代谢病患儿,从而得到早期诊断及治疗,降低死亡率、致残率,减轻家庭负担,提高优生优育率,值得临床推广应用。

Objective The results of genetic metabolic diseases in high-risk children in Xinjiang were analyzed by tandem mass spectrometry and gas chromatography.The incidence rate and clinical characteristics of the genetic metabolic diseases in this region were investigated,providing clinicians with evidence for diagnosis and treatment.Methods A total of 2500 children at high risk of highly suspected genetic metabolic disease in the hospital from January 2014 to April 2019 were selected as the study objects for blood and urine analysis by gas chromatography and tandem mass spectrometry.Results Among the 2500 children,219 positive cases(8.76%)were detected,of which 119 were males and 100 were females,and the total incidence of neonatal period was 80 cases(36.53%),one year old 84 cases(38.36%),one to twelve years old 55 cases(25.11%),and through the test,found a total of 18 diseases.amino acids,organic acids and fatty acid oxidation and metabolic diseases.Of these,118 cases(53.88%)were high in various amino acids,84 cases(38.36%)were high in various organic acids,and 17 cases(7.76%)were oxidative defects of various fatty acids.Conclusion Clinically through various clinical manifestations and laboratory examination can’t clear the cause of suspected genetic metabolic disease in high-risk children using tandem mass spectrometry and gas chromatography technology screening can be found that children with inherited metabolic disease in time,to get early diagnosis and treatment,reduce mortality,morbidity,and reduce the family burden,increase the rate of eugenic and superior nurture,worthy of clinical popularization and application.