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目的探讨四氢生物喋呤(BH4)负荷试验在高苯丙氨酸血症(HPA)鉴别诊断中的应用价值。方法自2008年1月-2010年6月,27例HPA患儿采用口服BH4(20 mg/kg)负荷试验。对其中血苯丙氨酸(Phe)浓度小于6 mg/dl患儿采用口服Phe-BH4联合负荷试验,结合尿喋呤分析、血红细胞二氢喋呤还原酶(DHPR)活性测定。结果 (1)在BH4负荷试验中,不同类型HPA患儿的血Phe浓度表现出各不相同的改变。27例HPA患儿中,共鉴别出5例BH4缺乏症,9例BH4反应性苯丙氨酸羟化酶(PAH)缺乏症,13例BH4无反应性苯丙氨酸羟化酶(PAH)缺乏症。(2)在22例中度苯丙酮尿症(PKU)患儿中,9例为BH4反应性PAH缺乏症。结论 BH4负荷试验在HPA早期鉴别诊断中十分重要,部分中度PKU对BH4有反应,可使用BH4替代治疗。
Objective To investigate the value of tetrahydrobiopterin (BH4) stress test in the differential diagnosis of hyperphenylalaninemia (HPA). Methods From January 2008 to June 2010, 27 HPA infants were treated with an oral BH4 (20 mg / kg) stress test. The Phe-BH4 combined load test was used in children with Phe concentration less than 6 mg / dl. Combined with urinary excretion analysis, DHPR activity was determined. Results (1) In the BH4 stress test, blood Phe concentrations in different types of HPA children showed different changes. Of 27 children with HPA, 5 were identified as BH4 deficiency, 9 were BH4-reactive phenylalanine hydroxylase (PAH) deficiency, and 13 were BH4-unreactive phenylalanine hydroxylase (PAH) Deficiency. (2) Of the 22 patients with moderate phenylketonuria (PKU), 9 were BH4-reactive PAH deficiency. Conclusion The BH4 load test is very important in the early differential diagnosis of HPA. Some moderate PKU respond to BH4, and BH4 alternative therapy can be used.