Retrospective analysis of screening results of neonatal hyperphenylalaninemia and congenital hypothyroidism in Guilin area of Guangxi from 2017 to 2023
Objective To understand the screening of neonatal diseases in Guilin area,and to provide a more comprehen-sive scientific basis for the prevention and treatment of neonatal inherited metabolic diseases in this area.Methods The detection data of thyroid stimulating hormone(TSH)and phenylalanine(Phe)in 311192 newborns in Guilin Neonatal Disease Screening Center from January 2017 to December 2023 were collected.The neonatal screening rate in different years,the incidence of HPA and CH in districts,counties and ethnic groups were counted,and the genotype and phenotype relationship of HPA were discussed.Results Among the 311192 newborns,8 cases were diagnosed with HPA,and the incidence rate was 0.26/10000.118 children with CH were diagnosed,and the incidence rate was 3.79/10000.According to regional analysis,the incidence of HPA in Xing'an County was the highest(0.93/10000),and the incidence of CH in Longsheng County was the highest(5.35/10000).According to the ethnic analysis,the incidence of HPA was the highest in Yao nationality(1.57/10000),and the incidence of CH was the highest in Dong nationality(13.57/10000).A total of 12 mutations were found in 7 patients.Among them,the common mutations of phenylalanine hydroxylase(PAH)gene c.728G＞A,c.721C＞T,c.1238G＞C and c.1223G＞A accounted for 33.3％in Chinese population.The hot spot mutations of 6-pyruvyltetrahydropterin synthase(PTS)gene c.155A＞G,c.259C＞T and c.84-291 A accounted for 25.0％,and the rest were low frequency mutations.Conclusion There are differences in the incidence of the two diseases in different regions and nationalities in Guilin.To improve the breadth and accuracy of neonatal disease screening,combined gene detection is helpful for early detection of genetic metabolic diseases,further reduction of birth defects,and improvement of population quality in Guilin.
neonatal disease screeningcongenital hypothyroidism(CH)hyperphenylalaninemia(HPA)Guilin areaeth-nic groups
NETL
NSTL
万方数据
