【摘要】 目的探讨九江市新生儿高苯丙氨酸血症(HPA)的患病率及临床分型、基因突变特点。方法选取本市2013年1月～2017年12月出生的新生儿共261 659例作为筛查对象,使用芬兰产VICTOR-2D全自动免疫荧光仪对处理后的血斑标本进行检测;对确诊HPA患儿行四氢生物蝶呤(BH4)负荷试验、尿蝶呤谱分析和红细胞二氢蝶啶还原酶(DHPR)活性测定以鉴别诊断,以Sanger测序对苯丙氨酸羟化酶(PAH)基因突变进行分析。结果筛查261 659例活产新生儿后发现HPA 24例,患病率1/10 902。24例HPA中,14例(58.3%)苯丙氨酸羟化酶(PAH)缺乏症(PKU),患病率1/18 689,其中7例(50%)经典型苯丙酮尿症(PKU),2例(14.3%)轻度缺乏PKU,5例(35.7%)BH4缺乏症,11例患儿接受PAH基因突变分析,其中,9例发现2个突变点,2例发现1个突变点,共发现12种基因突变。结论九江市PAH缺乏症发病率低于全国水平,以经典PKU和BH4为主,早期新生儿HPA筛查有利于降低全市出生人口缺陷率。更多还原

【Abstract】 Objective To explore the prevalence rate, clinical typing and gene mutation characteristics of neonatal hyperphenylalanine syndrome(HPA)in Jiujiang City. Methods A total of 261 659 newborns from January 2013 to December 2017 were selected as screening objects. For the diagnosis of hyperphenylalanine, tetrahydrobiological pterine stress test, urine pterine spectrum analysis and erythrocyte dihydropteridine reductase activity were performed, and phenylalanine hydroxylase gene mutation was analyzed by Sanger sequencing. Results After screening 261 659 live newborns, 24 cases of HPA were found, and the prevalence rate was 1/10 902. Among 24 cases of high blood phenylalanine, 14 cases(58.3%) was phenylalanine hydroxylase deficiency(PKU), the prevalence of 1/18 689, including 7 cases(50.0%) with typical benzene acetone urine disease(PKU), 2 cases((14.3%) with lack of mild PKU, 5 cases(35.7%) of BH4 deficiency. 11 patients received PAH gene mutation analysis, 9 cases were found with two point mutations, 2 cases with a mutation point. A total of 12 kinds of genetic mutations was found. Conclusion The incidence of phenylalanine hydroxylase deficiency in Jiujiang City is lower than the national level, mainly including classic PKU and BH4.Screening for early neonatal HPA is conducive to reducing the rate of birth defects in the city.更多还原