秦皇岛地区新生儿足跟血遗传代谢病筛查结果及预后分析OA
Screening results and prognostic analysis of newborn heel blood for inherited metabolic diseases in the Qinhuangdao region
目的 分析秦皇岛地区新生儿足跟血遗传代谢病筛查结果及预后.方法 将 2018 年 1 月至 2024 年 12 月秦皇岛市妇幼保健院遗传优生实验室行足跟血遗传代谢病筛查的新生儿 107 462 名纳入研究,分析其遗传代谢病筛查结果及预后情况.结果 107 462 例新生儿中初筛阳性 3 439 例,初筛阳性率为 3.20％,召回复查 3 401 例,召回率为 98.90％,最终确诊遗传代谢病32 例,发病率为 0.030％.2018 年至 2024 年足跟血遗传代谢病筛查结果发病率存在波动.确诊的 32 例遗传代谢病包括高苯丙氨酸血症、异丁酰基辅酶 A 脱氢酶缺乏症、原发性肉碱缺乏症、丙酸血症、甲基丙二酸血症,发病率分别为 0.015％、0.001％、0.005％、0.001％、0.008％.高苯丙氨酸血症 16 例均出现苯丙氨酸(Phe)、苯丙氨酸/酪氨酸(Phe/Tyr)水平升高;异丁酰基辅酶A 脱氢酶缺乏症 1 例出现丁酰肉碱(C4)/乙酰肉碱(C2)、C4/丙酰肉碱(C3)水平升高;原发性肉碱缺乏症 5 例均出现游离肉碱(C0)水平降低;丙酸血症 1 例 C3、C3/C2 水平升高;甲基丙二酸血症 9 例中 8 例均出现 C3、C3/C2、C3/C0、异戊酰肉碱(C5)水平升高,1 例未出现异常升高.中位随访 4.6(0.5～6.5)年显示,32 例遗传代谢病患儿中 1 例(3.13％)夭折,7 例(21.88％)发育迟缓,其余 24 例(75.00％)正常.结论 秦皇岛地区新生儿中存在一定比例的遗传代谢病,其中高苯丙氨酸血症发病率最高,串联质谱特异性标志物可对其进行检出,通过早发现、早诊断及早治疗,可明显改善患儿预后.
Objective To analyze the screening results and prognosis of inherited metabolic diseases identified through newborn heel blood screening in the Qinhuangdao region.Methods A total of 107 462 newborns who underwent heel blood screening for inherited metabolic diseases at the Genetic Eugenics Laboratory of Maternal and Child Care Center of Qinhuangdao from January 2018 to December 2024 were enrolled in this study,and their screening results and prognosis were analyzed.Results Among the 107 462 newborns,3 439 tested positive in the initial screening,yielding an initial positive rate of 3.20％.A total of 3,401 cases were recalled for confirmatory testing,with a recall rate of 98.90％,and 32 cases were finally diagnosed with inherited metabolic diseases,corresponding to an incidence rate of 0.030％.The incidence rate of inherited metabolic diseases detected through newborn heel blood screening fluctuated between 2018 and 2024.The 32 confirmed cases comprised phenylketonuria,isobutyryl-CoA dehydrogenase deficiency,primary carnitine deficiency,propionic acidemia,and methylmalonic acidemia,with incidence rates of 0.015％,0.001％,0.005％,0.001％,and 0.008％,respectively.All 16 cases of phenylketonuria showed elevated levels of phenylalanine(Phe)and the phenylalanine/tyrosine(Phe/Tyr)ratio.The single case of isobutyryl-CoA dehydrogenase deficiency exhibited elevated levels of butyrylcarnitine(C4)/acetylcarnitine(C2)and C4/propionylcarnitine(C3).All 5 cases of primary carnitine deficiency showed decreased free carnitine(C0)levels.The single case of propionic acidemia presented with elevated C3 and C3/C2 levels.Among the 9 cases of methylmalonic acidemia,8 showed elevated levels of C3,C3/C2,C3/C0,and isovalerylcarnitine(C5),while 1 case did not show any abnormal elevations.With a median followup of 4.6 years(range:0.5-6.5 years),among the 32 children with inherited metabolic diseases,1(3.13％)died,7(21.88％)experienced developmental delay,and the remaining 24(75.00％)developed normally.Conclusion A certain proportion of newborns in the Qinhuangdao region have inherited metabolic diseases,with phenylketonuria being the most common.These conditions can be detected using specific biomarkers identified by tandem mass spectrometry.Early detection,diagnosis,and treatment significantly improve patient outcomes.
姜珊;吴红丽;闫鹏跃;刘敬华;李涵羽
秦皇岛市妇幼保健院遗传优生实验室,河北 秦皇岛 066000秦皇岛市妇幼保健院检验科,河北 秦皇岛 066000秦皇岛市妇幼保健院遗传优生实验室,河北 秦皇岛 066000秦皇岛市妇幼保健院遗传优生实验室,河北 秦皇岛 066000秦皇岛市妇幼保健院科教科,河北 秦皇岛 066000
医药卫生
新生儿足跟血秦皇岛遗传代谢病筛查预后
newbornheel bloodQinhuangdaoinherited metabolic diseasescreeningprognosis
《中国妇幼健康研究》 2026 (9)
69-73,5
秦皇岛市科学技术研究与发展计划项目(202401A026)
评论