血清苯丙氨酸水平对苯丙酮尿症患儿智商的影响

Effect of Fluctuation of Serum Phenylalanine Level on IQ of Children with Phenylketonuria

目的探讨苯丙酮尿症(PKU)患儿血清苯丙氨酸水平的波动对其智商的影响。方法分析2015年8月-2018年8月因苯丙酮尿症入院的82例患儿,所有患儿均予以低苯丙氨酸饮食,每周抽血评估患儿血清苯丙氨酸水平,连续26周应用韦氏儿童智力量表评估患儿的智力情况,包括语言智商(VIQ)、操作智商(PIQ)和全量表智商(FIQ)。结果26周后,PKU患儿血清苯丙氨酸水平较干预前显著降低(P<0.05),期间血清苯丙氨酸水平的波动则为3.3±1.2mg/dl;PKU患儿FIQ较干预前比较差异具有统计学意义(P<0.05)。干预后的苯丙氨酸水平与患儿的VIQ、PIQ及FIQ均无明显相关,但苯丙氨酸水平的波动与患儿的FIQ呈明显负相关(r=-0.78,P<0.05)。结论PKU患儿的血清苯丙氨酸水平与智商无明显相关,但血清苯丙氨酸水平的波动与FIQ呈显著的负相关。

Objective To investigate the effect of fluctuations in serum phenylalanine levels on IQ in children with phenylketonuria. Methods 82 children admitted to hospital from August 2015 to August 2018 for phenylketonuria were enrolled. All children were treated with a low phenylalanine diet and serum phenylalanine levels were assessed weekly for 26 weeks. The children's intelligence was assessed using the Wechsler Intelligence Scale, including VIQ, PIQ, and FIQ. Results After 26 weeks, serum phenylalanine levels were significantly lower in children with PKU than before intervention ( P <0.05), and serum phenylalanine levels were 3.3±1.2 mg/dl during the period;The difference in FIQ between the children and the pre-intervention was statistically significant ( P <0.05).There was no significant correlation between phenylalanine levels after intervention and VIQ, PIQ and FIQ in children, but fluctuations in phenylalanine levels were significantly negatively correlated with FIQ in children ( r=-0.78,P <0.05). Conclusion Serum phenylalanine levels were not significantly associated with IQ in children with PKU, but fluctuations in serum phenylalanine levels were significantly negatively correlated with FIQ.