摘要
目的了解福建省泉州地区新生儿氨基酸代谢障碍(amino acid disorders,AAD)的总体筛查概况。方法应用串联质谱技术对泉州地区2014年1月~2018年11月期间364545例新生儿进行遗传代谢病筛查,对可疑阳性患儿进行相关致病基因检测,统计分析确诊AAD的种类、疾病构成和发病率。结果共确诊AAD患儿42例,AAD总发病率为1∶8680。确诊10种不同的AAD,其中最常见的苯丙氨酸羟化酶缺乏症14例(33.3%),其次为希特林蛋白缺乏症10例(23.8%),其余的分别为四氢生物蝶呤缺乏症4例(9.5%)、非酮性高甘氨酸血症3例(7.1%)、甲硫氨酸腺苷转移酶I/III缺乏症3例(7.1%)、瓜氨酸血症I型2例(4.8%)、精氨酰代琥珀酸尿症2例(4.8%)和鸟氨酸氨甲酰转移酶缺乏症2例(4.8%);氨甲酰磷酸合成酶缺乏症和高脯氨酸血症较罕见,各确诊1例。结论福建省泉州地区新生儿AAD的疾病构成和发病率等特征的阐明可为该地区的出生缺陷防控提供科学依据与指导。
Objective To investigate the characteristics of newborn screening for amino acid disorders(AAD)in Quanzhou of Fujian Province.Methods From January 2014 to November 2018,a total of 364545 newborns in Quanzhou were screened for inherited metabolic diseases by tandem mass spectrometry.Genetic testing was performed for suspected positive newborns,statistical analysis was done to confirm the type of AAD,disease spectrum and incidence.Results A total of 42 patients with AAD were diagnosed,and the overall incidence of AAD was 1:8680.Ten different types of AAD were diagnosed,among which phenylalanine hydroxylase deficiency was the most common disorder(14/42,33.3%),followed by citrin deficiency(10/42,23.8%),and the rest were 4 cases with tetrahydrobiopterin deficiency(9.5%),3 cases withnonketotic hyperglycinemia(7.1%),3 cases with methionineadenosine transferase I/III deficiency(7.1%),2 cases with citrullinemiatype I(4.8%),2 cases withargininosuccinatelayse deficiency(4.8%)and 2 cases with ornithine carbamoyl transferase deficiency(4.8%),but carbamoylphosphatesynthetase deficiency and hyperprolinemia were relatively rare,and one case was diagnosed respectively.Conclusion The clarification of the disease spectrum and incidence of AAD in Quanzhou of Fujian Province can provide scientific basis and guidance for birth defect prevention and control in this region.
作者
钟锦平
彭维林
傅清流
林壹明
ZHONG Jin-ping;PENG Wei-lin;FU Qing-liu;LIN Yi-ming(Department of Clinical Laboratory,Quanzhou Maternity and Children’s Hospital,Fujian Quanzhou 362000,China)
出处
《现代检验医学杂志》
CAS
2020年第4期41-44,78,共5页
Journal of Modern Laboratory Medicine
基金
泉州市科技计划项目(2018Z160,2018N085S)。
关键词
氨基酸代谢障碍
串联质谱技术
新生儿
疾病构成
发病率
amino acid disorders
tandem mass spectrometry
newborn baby
disease spectrum
incidence
