【论著】甘肃地区13 920例新生儿高苯丙氨酸血症筛查和诊断分析

  08-12-31  

胡秀琴郝胜菊闫有圣陈丕亮
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。
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 13 920 of the neonates in Gansu Province
HU Xui?qingHAO Hang?upYAN You?shengCHENG Pei?liang
ABSTRACTObjectiveTo study the rate and the type of hyperphenylalanemia (HPA) in neonates by screening and diagnosis of blood hyperphenylalanemia in Gansu Province. MethodsBlood 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. ResultsAmong 13 920 neonates, HPA were found in 6 neonates. They were all diagnosised as phenylketonuria (PKU). BH4 deficiency wasn't found. Only one BH4 responsive PKU was diagnosised. Six difference mutations were detected in the 6 neonatal PKU. The mutation R243Q had most high relative frequency, then V399V and EX6?96A. ConclusionThe research shows that the rate of hyperphenylalanemia in Gansu Province was 1/2 320. The identification and the diagnosis of hyperphenylalanemia are the basis for the treatment.
KEY WORDSNeonatal screeningPhenylketonuriaHyperphenylalanemiaPhenylalanine hydroxylasmutation analysis