2020年呼和浩特市新生儿苯丙酮尿症筛查

Analysis on the phenylketonuria screening in newborns in Huhhot in 2020

目的分析2020年呼和浩特市新生儿苯丙酮尿症(PKU)的筛查情况。方法采集2020年1—12月呼和浩特市成功分娩的15775名新生儿足底血滤纸干血片标本,利用茚三酮荧光检测方法筛查新生儿PKU,对疑似阳性PKU患儿进行尿蝶呤谱及红细胞二氢蝶啶还原酶(DHPR)活性检测,对阳性样本进行高效液相色谱串联质谱(HPLC-MS/MS)分析,评估HPLC-MS/MS的临床性能。结果剔除不合格血片53名,召回后重新采集34名,最终15756名新生儿。15756名新生儿中检出疑似阳性样本25例,对疑似阳性样本进行复检,高风险病例4例,通过尿蝶呤谱及DHPR检测确诊为典型PKU。此外,其中1例阳性病例经Sanger测序证实,确定为PAH基因杂合变异。结论质谱与尿蝶呤谱及DHPR阳性率呈现一致性,但其检测灵敏度高于茚三酮荧光,故质谱技术是早期新生儿PKU筛查有效且可靠的方法。

Objective To analyze the screening status of newborn phenylketonuria(PKU)in Hohhot in 2020.Methods Samples of plantar-blood filter paper dried blood tablets from 15775 newborns who were successfully delivered in Hohhot from January to December 2020 were collect-ed,the newborns were screened for PKU by ninhydrin fluorescence detection method,and the urine trexate spectrum and red blood cell dihydropter-idine reductase(DHPR)activity were performed in the children with suspected positive PKU.The positive samples were analyzed by high perfor-mance liquid chromatography-tandem mass spectrometry(HPLC-MS/MS)to evaluate the clinical performance of HPLC-MS/MS.Results 53 cases of unqualified blood tablets were removed,34 cases were collected again after recall,and finally 15756 newborns were diagnosed.25 cases of the 15756 screening subjects were monitored,and 4 cases positive samples were detected by the repeat test on positive samples,which was confirmed as typ-ical PKU by diagnosis technology.In addition,Sanger sequencing confirmed that heterozygous variation of PAH gene was found in one of the positive cases.Conclusion The positive rate of MS spectrometry was consistent with urine trexate spectrum and DHPR,but its sensitivity was privilege to ninhydrin fluorescence,mass spectrometry is an effective and reliable method for early neonatal PKU screening.