[1]钟锦平,彭维林,傅清流,等.福建泉州地区新生儿氨基酸代谢障碍的筛查结果分析[J].现代检验医学杂志,2020,35(04):41-44,78.[doi:10.3969/j.issn.1671-7414.2020.04.010]
　ZHONG Jin-ping,PENG Wei-lin,FU Qing-liu,et al.Retrospective Analysis of the Neonatal Screening Results of Amino Acid Disorders in Quanzhou Region, Fujian Province[J].Journal of Modern Laboratory Medicine,2020,35(04):41-44,78.[doi:10.3969/j.issn.1671-7414.2020.04.010]
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福建泉州地区新生儿氨基酸代谢障碍的筛查结果分析()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第35卷
期数:
2020年04期
页码:
41-44,78
栏目:
论　著
出版日期:
2020-09-05

文章信息/Info

Title:
Retrospective Analysis of the Neonatal Screening Results of Amino Acid Disorders in Quanzhou Region, Fujian Province
文章编号:
1671-7414（2020）04-041-05
作者:
钟锦平; 彭维林; 傅清流; 林壹明
（泉州市儿童医院检验科，福建泉州 362000）
Author(s):
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)
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
分类号:
R722.11；R589.3
DOI:
10.3969/j.issn.1671-7414.2020.04.010
文献标志码:
A
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364 545 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∶8 680。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。

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备注/Memo

备注/Memo:
收稿日期：2020-04-14修回日期：2020-04-27基金项目：泉州市科技计划项目（2018Z160，2018N085S）。作者简介：钟锦平（1979-），男，本科，主管技师，研究方向为临床检验学，E-mail: 1621312892@qq.com。通讯作者：林壹明（1987-），男，硕士，主管技师，研究方向为医学遗传学，E-mail: linyiming0819@sina.com。
更新日期/Last Update: 2020-10-08