53例苯丙酮尿症新生儿体格、智力和基因特征  

Physical,intellectual and genetic characteristics of 53 neonates with phenylketonuria

作　　者：刘丽迎 康文娟 董勤 张晓刚 阎亚琼[1] LIU Liying;KANG Wenjuan;DONG Qin;ZHANG Xiaogang;YAN Yaqiong(School of Public Health,Shanxi Medical University,Taiyuan,Shanxi 030001,China;Shanxi Children's Hospital(Shanxi Maternal and Child Health Hospital),Taiyuan,Shanxi 030013,China;Shanxi Clinical Medical Research Center for Birth Defects and Rare Diseases,Taiyuan,Shanxi 030013,China)

机构地区：[1]山西医科大学公共卫生学院,山西太原030001 [2]山西省儿童医院(山西省妇幼保健院),山西太原030013 [3]山西省出生缺陷及罕见病临床医学研究中心,山西太原030013

出　　处：《预防医学》2022年第9期955-958,共4页CHINA PREVENTIVE MEDICINE JOURNAL

基　　金：山西省自然科学基金面上项目(20210302124434)。

摘　　要：目的分析53例苯丙酮尿症(PKU)新生儿体格、智力发育及苯丙氨酸羟化酶(PAH)基因突变特征,为PKU的防治及遗传咨询提供参考。方法收集2018—2021年山西省儿童医院新生儿疾病筛查中心确诊并规范治疗至2岁的53例PKU患儿资料;根据世界卫生组织生长曲线图2006版评估体重、身高发育水平;采用WS/T 580—2017《0岁~6岁儿童发育行为评估量表》评估智力发育水平;检测患儿及其父母基因突变情况;描述性分析PKU患儿体格、智力发育及基因特征。结果53例PKU患儿,男童29例,女童24例;经典PKU 36例,轻度PKU 17例;农村30例,城市23例;开始治疗年龄为30(10)d,确诊时血苯丙氨酸浓度为(1507±685)μmol/L。身高发育正常52例,占98.11%;体重和智力发育全部正常。城市患儿功能区发育商(DQ)高于农村患儿(94.92±8.57和87.65±6.57,t=-3.498,P=0.001)。轻度PKU患儿DQ高于经典PKU患儿(95.55±8.76和88.57±7.11,t=-3.095,P=0.003)。PAH基因突变分析发现37种突变,主要分布在第3、6、7、11、12外显子和第4内含子上;高频突变位点为c.728G>A、c.611A>G和c.1197A>T,其中有3个新发现的变异c.674C>G、c.1316-2A>C和c.1069T>C。结论PKU患儿规范治疗后,体格和智力发育可达到正常儿童水平,这53例患儿PAH基因突变以c.728G>A、c.611A>G、c.1197A>T为主,并发现了新突变位点c.674C>G、c.1316-2A>C和c.1069T>C。Objective To investigate the physical and intellectual development and mutation characteristics of the phenylalanine hydroxylase(PAH)gene among 53 newborns with phenylketonuria(PKU),so as to provide insights into the management and genetic counseling of PKU.Methods The medical records of 54 children with definitive diagnosis of PKU and standardized therapy until 2 years at the Center for Neonatal Disease Screening of Shanxi Children's Hospital from 2018 to 2021 were collected.Newborns'body weight and height developments were evaluated using the World Health Organization growth chart(2006 version),and the intellectual development was assessed using the national criteria of Development Behavior Assessment Scale among Children at Ages of 0 to 6 Years(WS/T 580-2017).The gene mutations were detected among neonates and their children,and the physical,intellectual developments and genetic characteristics of neonates with PKU were descriptively analyzed.Results The 53 PKU cases included 29 male children and 24 female children,36 cases with classic PKU and 17 cases with mild PKU,and 30 cases from rural areas and 23 cases from urban areas.The study subjects had a median age of 30(10)d at initial therapy,and a mean bloodphenylalanine concentration of(1507±685)μmol/L at definitive diagnosis.There were 52 cases with normal height developments(98.11%),and all cases had normal weight and intellectual developments.The mean developmental functional quotient(DFQ)was significantly greater among urban children with PKU than among rural children[(94.92±8.57)vs.(87.65±6.57);t=-3.498,P=0.001],and the mean DFQ was significantly higher among children with mild PKU than among those with classic PKU[(95.55±8.76)vs.(88.57±7.11);t=-3.095,P=0.003].There were 37 mutations detected in the PAH gene,which were mainly distributed in exons 3,6,7,11,12 and intron 4.Three high-frequency mutation sites were detected,including c.728G>A,c.611A>G and c.1197A>T,including three novel mutations(c.674C>G,c.1316-2A>C and c.1069T>C).Conclusions Following

关 键 词：苯丙酮尿症 苯丙氨酸羟化酶 基因型 体格发育 智力 

分 类 号：R722.11[医药卫生—儿科]