新疆维吾尔自治区四地州新生儿苯丙酮尿症筛查及确诊患者随访  

Screening and follow-up of neonatal phenylketonuria in four prefectures of Xinjiang Uygur Autonomous Region

作　　者：周尚琴 陈曦 薛淑媛 张璐涵 丁桂凤 Zhou Shangqin;Chen Xi;Xue Shuyuan;Zhang Luhan;Ding Guifeng(School of Public Health,Xinjiang Medical University,Xinjiang Uygur Autonomous Region,Urumqi 830000,China;Department of Child Rehabilitation,Urumqi Maternal and Child Health Care Hospital,Xinjiang Uygur Autonomous Region,Urumqi 830001,China;Neonatal Disease Screening Center,Urumqi Maternal and Child Health Care Hospital,Xinjiang Uygur Autonomous Region,Urumqi 830001,China;Department of Science and Education,Urumqi Maternal and Child Health Care Hospital,Xinjiang Uygur Autonomous Region,Urumqi 830001,China;Department of Obstetrics,Urumqi Maternal and Child Health Care Hospital,Xinjiang Uygur Autonomous Region,Urumqi 830001,China)

机构地区：[1]新疆医科大学公共卫生学院,新疆乌鲁木齐830000 [2]乌鲁木齐市妇幼保健院儿童康复科,新疆乌鲁木齐830001 [3]乌鲁木齐市妇幼保健院新生儿疾病筛查中心,新疆乌鲁木齐830001 [4]乌鲁木齐市妇幼保健院科教科,新疆乌鲁木齐830001 [5]乌鲁木齐市妇幼保健院产科,新疆乌鲁木齐830001

出　　处：《发育医学电子杂志》2023年第4期270-276,共7页Journal of Developmental Medicine (Electronic Version)

基　　金：新疆维吾尔自治区自然科学基金面上项目(2020D01A26);新疆维吾尔自治区创新环境(人才、基地)建设专项—天山创新团队计划(2020D14010);新疆医科大学研究生创新创业项目(CXCY2022044)。

摘　　要：目的分析新疆维吾尔自治区四地州新生儿苯丙酮尿症(phenylketonuria,PKU)筛查覆盖率、召回率、发病率及确诊患者治疗随访情况。方法回顾性分析2010年1月至2020年12月新疆维吾尔自治区乌鲁木齐市、昌吉回族自治州、吐鲁番地区、塔城地区的妇幼保健机构出生的新生儿,生后2~7 d足底采血,采用荧光法进行血苯丙氨酸(phenylalanine,Phe)浓度检测,筛查阳性者召回进一步检测确诊或排除PKU,确诊患儿均接受低Phe饮食治疗并随访。统计学方法采用χ^(2)检验、趋势性χ^(2)检验、单因素方差分析、LSD检验、H检验和Tamhane’s T2法。结果2010年1月至2020年12月新生儿PKU的总体筛查覆盖率为86.14%。其中2017年出生人数65678例,筛查人数62938例,达到近11年来的高峰,筛查覆盖率呈逐年增高趋势(χ^(2)=77064.800,P<0.001)。确诊轻度高苯丙氨酸血症(hyperphenylalaninemia,HPA)155例;PKU 96例,PKU发病率为1/5123,男女比例为2.10∶1,差异有统计学意义(χ^(2)=8.972,P<0.05)。根据临床筛查随访工作实际分为2010年1月至2012年12月、2013年1月至2016年12月、2017年1月至2020年12月3个阶段,这3个阶段的基因确诊PKU时间从月龄18.27(1.20,81.07)个月缩短至1.13(0.23,3.33)个月,差异有统计学意义(H=58.588,P<0.001)。随访结果显示,PKU患儿智力发育异常发生率为4.88%(4/82)。结论2010年1月至2020年12月,新疆维吾尔自治区四地州新生儿PKU筛查覆盖率呈逐年增高趋势,且自2019年开始筛查覆盖率高于全国平均水平。PKU患病率男性高于女性。基因确诊PKU的月龄提前至1~3个月。Objective To analyze the screening coverage,recall rate,incidence and follow-up of neonatal phenylketonuria(PKU)in four prefectures of Xinjiang Uygur Autonomous Region.Method A retrospective analysis was made on newborns who born in maternal and child health institutions in Urumqi City,Changji Hui Autonomous Prefecture,Turpan Prefecture and Tacheng Prefecture from January 2010 to December 2020.Plantar-blood samples were collected at 2 to 7 days after birth,and blood concentration of phenylalanine(Phe)was detected by fluorescence method.The positive patients were recalled for further detection to confirm or exclude PKU.All confirmed patients received the low Phe diet and were followed up.Statistical methods performed by χ^(2) test,trend χ^(2) test,one-way analysis of variance,LSD test,H test and Tamhane's T2 method.Result From January 2010 to December 2020,the overall screening coverage rate of PKU was 86.14%.In 2017,there were 65678 births and 62938 screening cases,which reached the peak in recent 11 years,and the screening coverage showed a increasing trend year by year(χ^(2)=77064.800,P<0.001),of which the diagnosis of mild hyperphenylalaninemia(HPA)was 155 cases,There were 96 cases of PKU,and the incidence of PKU was 1/5123.The male to female ratio was 2.10 to 1,the difference was statistically significant(χ^(2)=8.972,P<0.05).According to the actual clinical screening follow-up work,it was divided into 3 stages from January 2010 to December 2012,January 2013 to December 2016,and January 2017 to December 2020.In these 3 screening stages,the time of genetic diagnosis of PKU was shortened from 18.27(1.20,81.07)months to 1.13(0.23,3.33)month,the difference was statistically significant(H=58.588,P<0.001).Follow-up results showed that the incidence of abnormal intellectual development in PKU children was 4.88%(4/82).Conclusion From January 2010 to December 2020,the neonatal PKU screening coverage in the four prefectures of Xinjiang Uygur Autonomous Region showed an increasing trend year by year,and since 2019,t

关 键 词：新生儿疾病筛查 苯丙酮尿症 苯丙氨酸 筛查 随访 

分 类 号：R722.1[医药卫生—儿科]