摘要
目的 回顾性分析中山市新生儿串联质谱筛查遗传代谢病情况,了解本地区遗传代谢病疾病谱、基因变异及临床表现。方法 选择2014年4月1日至2023年6月30日于中山市新生儿疾病筛查中心行串联质谱筛查的新生儿为研究对象,采用非衍生法检测新生儿足跟血干血滤纸片的氨基酸、酰基肉碱谱及琥珀酸丙酮浓度;阳性病例召回复查串联质谱,复查阳性者根据病种选择性完善尿有机酸分析、血尿常规、生化、血气分析、血氨及基因检测等,最终确诊氨基酸代谢病、有机酸代谢病及脂肪酸氧化障碍3类遗传代谢病。结果 9年共筛查新生儿221731例,阳性2119例,筛查阳性率0.96%,最终确诊10种遗传代谢病37例,总体发病率1/5993,其中氨基酸代谢病18例(1/12318),有机酸代谢病7例(1/31676),脂肪酸氧化障碍12例(1/18478)。发病最多的疾病为原发性肉碱缺乏症10例,其中母源性游离肉碱缺乏症2例,高苯丙氨酸血症9例,希特林蛋白缺乏症7例及甲基丙二酸血症6例。确诊患儿有2例新生儿期发病抢救无效死亡,分别为鸟氨酸氨甲酰转移酶缺乏症及肉碱酰基肉碱移位酶缺乏症患儿,1例原发性肉碱缺乏症患儿未治疗,感染后猝死,存活患儿中有4例甲基丙二酸血症患儿出现神经发育落后(1例重度、3例轻度);其余患儿经积极治疗随访生长发育均正常。结论 新生儿遗传代谢病筛查,通过早发现、早诊断及早治疗,可明显改善患儿预后,提高人口素质。
Objective To retrospectively analyze the status of neonatal tandem mass spectrometry screening for genetic metabolic diseases in Zhongshan City,and to understand the disease spectrum,genetic variations,and clinical manifestations of genetic metabolic diseases in the local area.Methods The neonates who underwent tandem mass spectrometry screening in Zhongshan Neonatal Disease Screening Center from April 1,2014 to June 30,2023 were selected as the research subjects.The amino acid,acylcarnitine spectrum and acetone succinate concentration of neonatal heel blood dry blood filter paper were detected by non-derivative method.Positive cases were recalled for re-examination by tandem mass spectrometry,and the re-positive cases were undergo selective improvement of urine organic acid analysis,blood and urine routine,biochemistry,blood gas analysis,blood ammonia and gene testing based on the disease type.Ultimately,they will be diagnosed with three types of genetic metabolic disorders:amino acid,organic acid,or fatty acid oxidation disorders.Results A total of 221731 newborns were screened in 9 years,of which 2119 were positive,with a positive rate of 0.96%.Thirty seven cases of 10 genetic metabolic diseases were finally diagnosed,with an overall incidence rate of 1/5993,including 18 cases of amino acid metabolic diseases(1/12318),7 cases of organic acid metabolic diseases(1/31676),and 12 cases fatty acid oxidation disorder(1/18478).The most common diseases are 10 cases of primary carnitine deficiency,including 2 cases of maternal free carnitine deficiency,9 cases of hyperphenylalaninemia,7 cases of Citrin protein deficiency,and 6 cases of methylmalonic acidemia.Two confirmed cases of neonatal onset and ineffective rescue resulted in death,namely ornithine aminotransferase deficiency and carnitine acylcarnitine transferase deficiency.One case of primary carnitine deficiency was left untreated and died suddenly after infection.Among the surviving children,four cases of methylmalonic acidemia had neurodevelopmental delay(one
作者
黄连红
廖加洛
严学勤
陈小兰
王丽
唐家彦
HUANG Lianhong;LIAO Jialuo;YAN Xueqin;CHEN Xiaolan;WANG Li;TANG Jiayan(Department of Child Health Care,Boai Hospital of Zhongshan,Zhongshan,Guangdong 528403,China;Department of Pediatrics,Boai Hospital of Zhongshan,Zhongshan,Guangdong 528403,China)
出处
《中国优生与遗传杂志》
2024年第3期597-602,共6页
Chinese Journal of Birth Health & Heredity
基金
中山市卫生健康局医学科研项目(2021J216)。
关键词
遗传代谢病
串联质谱
新生儿筛查
inherited metabolic disease
tandem mass spectrometry
newborn screening
