高苯丙氨酸血症检测技术联合应用及家系基因研究

Analysis of the combined techniques and family studies of hyperphenylalaninemia

目的通过分析该院近3年新生儿高苯丙氨酸血症(HPA)筛查结果,了解该地区HPA筛查技术应用及家系基因变异情况,可进一步提高筛查、诊治、产前诊断的能力。方法采用荧光法和串联质谱法检测2018年1月至2020年12月自愿接受筛查的128997例新生儿足跟血苯丙氨酸(Phe)浓度,对筛查阳性者进行血串联质谱、生化、尿气相色谱、基因等相关检测进行确诊。结果两种检测方法均能有效检出11例确诊HPA患儿。筛查的128997例新生儿中有11例确诊为HPA患儿,其中轻度HPA患儿2例,经典型PKU患儿9例;由2例家系基因结果发现新发变异c.155T>G。结论该研究综合分析了HPA发病率、家系基因变异及荧光法、串联质谱法和基因检测3种主要方法联合应用的最新情况,有助于新生儿遗传代谢病筛查质量的提高、HPA患儿的早期诊治、遗传咨询等。

Objective To analyze the results of neonatal hyperphenylalaninemia(HPA)screening in the past three years in a hospital to understand the application of HPA screening technology and family gene mutations in this region,which can further improve the ability of screening,diagnosis and treatment,and prenatal diagnosis.Methods Fluorescence and tandem mass spectrometry were used to detect the heel blood phenylalanine concentration of 128997 newborns who were voluntarily screened from January 2018 to December 2020.Those who were screened positive were subjected to blood tandem mass spectrometry,biochemistry,gas chromatography and mass spectrometry,gene and other related tests were used to confirm the diagnosis.Results The two methods were effective in detecting 11 children with HPA.11 of the 128997 newborns screened were diagnosed with HPA,including 2 children with mild HPA and 9 children with classic PKU.A new mutation c.155T>G was found from the gene results of 2 cases.Conclusion This study comprehensively analyzed the latest situation of the HPA incidence,family gene variation and the combined application of the three main methods,including fluorescence,tandem mass spectrometry and gene detection,which will help improve the quality of new screening,early diagnosis and treatment of children with HPA,genetic counseling and so on.