The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?
The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?
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DOI：
10.1186/s13023-016-0394-2
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发表时间：
2016-01-29
影响因子：
3.7
通讯作者：
van Spronsen FJ
中科院分区：
文献类型：
--
作者：
Anjema K;Hofstede FC;Bosch AM;Rubio-Gozalbo ME;de Vries MC;Boelen CC;van Rijn M;van Spronsen FJ
目前尚不清楚新生儿四氢生物蝶呤（BH 4）负荷试验是否足以诊断PKU的长期BH 4反应性。因此，我们比较了新生儿（测试I）与48小时BH4负荷试验（测试II）和长期BH4反应性的预测值。收集T = 8（n = 85）和T = 24（n = 5）时试验I（> 1991，20 mg/kg）的数据，并与试验II和年龄较大时的长期BH 4反应性进行比较，以Phe降低≥ 30%作为截止值。医院诊断时的中位（IQR）年龄为9（7 - 11）天，测试II时的年龄为11.8（6.6 - 13.7）岁。试验I的基线Phe浓度显著高于试验II（分别为1309（834 - 1710）和514（402 - 689）μ mol/L，P = 0.000）。15/85例患者在T = 8时检测呈阳性。除了一名未进行长期BH4反应性测试的患者外，所有患者均显示出长期BH4反应性。在20/70例T = 8的阴性试验患者中，证实了长期BH4反应性。在5例I T = 24的患者中，1/5在两次试验中均为阳性，并显示长期BH4反应性，2/5在两次试验中均为阴性，2/5显示I T = 24阴性，但1/2显示长期BH4反应性的阳性试验II。新生儿8小时和24小时BH4负荷试验阳性均可预测长期BH4反应性。然而，阴性测试并不排除长期的BH4反应性。其他替代测试BH4反应性在新生儿年龄应进行调查。
It is unknown whether the neonatal tetrahydrobiopterin (BH4) loading test is adequate to diagnose long-term BH4 responsiveness in PKU. Therefore we compared the predictive value of the neonatal (test I) versus the 48-h BH4 loading test (test II) and long-term BH4 responsiveness. Data on test I (>1991, 20 mg/kg) at T = 8 (n = 85) and T = 24 (n = 5) were collected and compared with test II and long-term BH4 responsiveness at later age, with ≥30 % Phe decrease used as the cut-off. The median (IQR) age at hospital diagnosis was 9 (7–11) days and the age at test II was 11.8 (6.6–13.7) years. The baseline Phe concentrations at test I were significantly higher compared to test II (1309 (834–1710) versus 514 (402–689) μmol/L, respectively, P = 0.000). 15/85 patients had a positive test I T = 8. All, except one patient who was not tested for long-term BH4 responsiveness, showed long-term BH4 responsiveness. In 20/70 patients with a negative test I T = 8, long-term BH4 responsiveness was confirmed. Of 5 patients with a test I T = 24, 1/5 was positive at both tests and showed long-term BH4 responsiveness, 2/5 had negative results at both tests and 2/5 showed a negative test I T = 24, but a positive test II with 1/2 showing long-term BH4 responsiveness. Both a positive neonatal 8- and 24-h BH4 loading test are predictive for long-term BH4 responsiveness. However, a negative test does not rule out long-term BH4 responsiveness. Other alternatives to test for BH4 responsiveness at neonatal age should be investigated.