串联质谱技术应用于新生儿遗传代谢病筛查,以甘肃省为例  

Tandem Mass Spectrometry Applied to the Screening of Neonatal Genetic Metabolic Diseases,an Example of Gansu Province

作　　者：孙丽芳[1] 李杰[1] Sun Lifang;Li Jie(The First Hospital of Tianshui,Tianshui,741000)

机构地区：[1]天水市第一人民医院,天水741000

出　　处：《基因组学与应用生物学》2020年第4期1955-1960,共6页Genomics and Applied Biology

摘　　要：为了明确甘肃省新生儿遗传代谢病的患病情况及分布情况。2017年1月1日至2018年10月31日期间,本研究应用串联质谱技术对41232例甘肃省新生儿进行遗传代谢病筛查。研究显示,所有筛查的新生儿中,共有67例确诊为遗传性代谢病,患病率为16.25/10000。疾病类型主要包括3大类,即氨基酸代谢病(苯丙酮尿症,高甲硫氨酸血症,高苯丙氨酸血症)、有机酸代谢病(甲基丙二酸血症,β-酮硫解酶缺乏症,异戊酸血症)和脂肪酸代谢病(脂肪酸氧化代谢障碍、原发性肉碱缺乏症)。苯丙酮尿症的患病例数和患病率为最高,其次为甲基丙二酸血症。此外,阳性率和确诊率在不同性别、出生体重、出生季度和分娩方式亚组中无显著差异(p>0.05)。然而,在出生孕周亚组中,足月儿的阳性率和确诊率显著低于早产儿和过期产儿(p<0.05),提示孕周可能是遗传代谢病患病的重要影响因素。In order to clarify the prevalence and distribution of neonatal genetic metabolic diseases,in this study we took Gansu Province as an example and collected 41232 cases of the neonates born during the period from January 1,2017 to October 31,2018.The rchnology of tandem mass spectrometry(MS/MS)was used to screen 41232 cases of newborns for genetic metabolic diseases.The study showed that 67 of all newborns screened were diagnosed with hereditary metabolic diseases with a prevalence of 16.25/10000.The types of diseases mainly include three major categories,namely,amino acid metabolic diseases(phenylketonuria,hypermethionemia,hyperphenylalaninemia),organic acid metabolism(methylmalonic acidemia,β-ketothiolase deficiency,isovaleric acidemia)and fatty acid metabolism disorders(fatty acid oxidative metabolism disorders,primary carnitine deficiency).The number and prevalence of phenylketonuria were the highest,followed by methylmalonic acidemia.In addition,there was no significant difference in the positive rate and the diagnosis rate between the different genders,birth weight,birth quarter,and mode of delivery(p>0.05).However,in the gestational age group,the positive rate and the diagnosis rate of term infants were significantly lower than those of premature infants and postmature infants(p<0.05),suggesting that gestational age might be an important factor in the pathogenesis of inherited metabolic diseases.

关 键 词：串联质谱 遗传代谢病 新生儿 筛查 孕周 

分 类 号：R722.1[医药卫生—儿科]