四氢生物蝶呤缺乏症7例早期临床诊断及治疗

[目的]总结四氢生物蝶呤(tetrahydrobiopterin,BH4)缺乏症的临床表现、诊断及治疗,以期为BH4缺乏症的早期诊断及治疗提供依据。[方法]对青岛市1998-2002年经新生儿疾病筛查诊断为高苯丙氨酸血症,以后临床高度可疑并进一步确诊的7例BH4缺乏症患儿进行分析。[结果]7例临床高度可疑患儿经尿蝶呤分析及BH4负荷试验均确诊为6-丙酮酰四氢蝶呤合成酶缺乏所致BH4缺乏症,生物蝶呤B%<10%,经BH4、左旋多巴和5-羟色氨酸治疗后神经系统症状改善。[结论]对所有高苯丙氨酸血症患者应进行BH4缺乏症的筛查,无条件筛查时,应密切观察神经系统症状,尽早确诊,以免延误治疗时机。

Earlier clinical diagnosis and treatment of tetrahydrobiopterin (BH4) deficiency of 7 cases report

[Objective] To evaluate the clinical situation, diagnosis and treatments of tetrahydrobiopterin(BH4) deficiency and to provide evidence for its earlier diagnosis and treatment. [Method] The clinical situation, diagnosis and treatments of 7 cases with BH4 deficiency patients were analysed, who were diagnosed by Neonatal Screening in Qingdao from 1998 to 2002. [Result] 7cases with BH4 deficiency patients were diagnosed as 6-pyruvoyl tetrahydro-biopterin synthase(PTPS) deficiency by uropterin analysis and BH4 stress test. [Conclusion] The screening of BH4 deficiency in all hyperphenylalaninaemia patients is necessary, at least, the symptoms of nervous system must be observed carefully in order to earlier diagnosis and treatment.