| 甘肃地区13920例新生儿高苯丙氨酸血症筛查和诊断分析 |
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| 引用本文： | 胡秀琴,郝胜菊,闫有圣,陈丕亮.甘肃地区13920例新生儿高苯丙氨酸血症筛查和诊断分析[J].中国优生优育,2008,14(4). |
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| 作者姓名： | 胡秀琴 郝胜菊 闫有圣 陈丕亮 |
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| 作者单位： | 甘肃省妇幼保健院 |
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| 摘 要： | 目的 通过对新生儿筛查和检测,了解甘肃地区高苯丙氨酸的发病情况和类型.方法 采集13 920例新生儿足跟末梢血,用荧光定量法检测干滤纸血片中的Phe浓度,并用尿蝶呤谱分析、四氢生物蝶呤负荷试验和PAH基因测序确诊和鉴别诊断可疑患者.结果 在13 920例新生儿中检出高苯丙氨酸血症6例,均诊断为苯丙酮尿症(PKU),未确诊四氢生物蝶呤(BH4)缺乏症,仅1例诊断为BH4反应性PKU.6例PKU患儿PAH基因部分外显子测序,检出6种基因突变.其中R243Q突变所占比例最高,其次是V399V、EX6-96A.结论 甘肃地区高苯氨酸血症发病率1/2 320,明显高于其他地区,早期诊断和鉴别诊断可以指导患儿的治疗.
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| 关 键 词： | 新生儿疾病筛查 苯丙酮尿症 高苯丙氨酸血症 基因突变分析 苯丙氨酸羟化酶 |
Screening and diagnosis of hyperphenylalanemia in 13920 of the neonates in Gansu Province |
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| HU Xui-qing,HAO Sheng-ju,YAN You-sheng,CHENG Pei-liang.Screening and diagnosis of hyperphenylalanemia in 13920 of the neonates in Gansu Province[J].Journal of Improving Birth Outcome and Child Development of China,2008,14(4). |
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| Authors: | HU Xui-qing HAO Sheng-ju YAN You-sheng CHENG Pei-liang |
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| Abstract: | Objective To study the rate and the type of hyperphenylalanemia(HPA)in neonates by screening and diagnosis of blood hyperphenylalanemia in Gansu Province.Methods Blood specimens of 13 920 neonates were detected.Phenylalanine(Phe)levels were determined quantitatively with neonatal fluorescence method.HPA was identificated by tetrahydrobiopterin(BH4)loading,the urine pterine profile analysis and mutation detection of PAH gene.Results Among 13 920 neonates,HPA were found in 6 neonates.They were all diagnosised... |
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| Keywords: | Neonatal screening Phenylketonuria Hyperphenylalanemia Phenylalanine hydroxylas mutation analysis |
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