实用临床医药杂志2024，Vol.28Issue(20)：124-127,137,5.DOI:10.7619/jcmp.20240528
扬州地区高苯丙氨酸血症筛查及致病基因特征研究
Screening for hyperphenylalaninemia and pathogenic gene characteristics in Yangzhou area
摘要
Abstract
Objective To investigate the incidence of neonatal hyperphenylalaninemia(HPA)and analyze the characteristics of HPA gene mutations in the Yangzhou area.Methods From Janu-ary 2013 to December 2022,285,549 newborns in Yangzhou were screened for HPA using either the ninhydrin fluorescence method or tandem mass spectrometry.Urinary pterin analysis,erythrocyte di-hydrobiopterin reductase activity measurement and genetic diagnosis were performed to screen positive individuals.Results A total of 29 cases were confirmed as HPA,including 3 cases of tetrahydro-biopterin(BH4)deficiency and 26 cases of phenylalanine hydroxylase(PAH)deficiency.The over-all incidence of HPA in Yangzhou was 1/9,847,with the incidence of PAH deficiency being 1/10,983,which were slightly higher than the national average but lower than other regions in Jiangsu Prov-ince.Among the cases,13(44.83％)were classic phenylketonuria(PKU),7(24.14％)were mild PKU,and 6(20.69％)were mild HPA.Sixteen patients with PAH gene mutations were all com-pound heterozygotes,with one case exhibiting three-site mutations.PAH gene mutations were predomi-nantly missense mutations,primarily concentrated in exon 7,followed by exon 6,with E7 c.728G＞A(21.21％)being the most frequent mutation.Three cases of BH4 deficiency were detected with PTS gene mutations,including 1 homozygous mutation and 2 compound heterozygous mutations.E5 c.259C＞T was the high-frequency PTS mutation gene in Yangzhou.Conclusion HPA has a certain incidence in Yangzhou,with classic PKU being the predominant type.This study clarified the characteristics of PAH and PTS gene mutations in Yangzhou,enriching the HPA gene database.关键词
高苯丙氨酸血症/苯丙酮尿症/四氢生物蝶呤缺乏症/基因突变/苯丙氨酸/新生儿Key words
hyperphenylalaninemia/phenylketonuria/tetrahydrobiopterin deficiency/gene mutation/phenylalanine/newborn分类
医药卫生引用本文复制引用
陈秋,张坡,胡苏玮,吴新萍,姜跃彭..扬州地区高苯丙氨酸血症筛查及致病基因特征研究[J].实用临床医药杂志,2024,28(20):124-127,137,5.基金项目
江苏省扬州市科学技术局科技计划项目(YZ2021058) （YZ2021058）
