Department of Pediatric Metabolism, Konya City Hospital, University of Health Sciences, Konya, Turkey.
Department of Pediatric Cardiology, Erciyes University Medical Faculty, Kayseri, Turkey.
Mol Genet Metab. 2023 Nov;140(3):107677. doi: 10.1016/j.ymgme.2023.107677. Epub 2023 Aug 2.
To compare the glycemic index(GI),obesity,echocardiographic,and arterial stiffness measurements with the healthy control group to evaluate the cardiovascular risk of pediatric classical phenylketonuria(PKU).
The study was a prospective observational,involving 104 pediatric volunteers between 2019 and 2020.Two groups were formed:the PKU patient group and the healthy control group.These two groups were further divided into three subgroups:obese,overweight,and normal weight.The patients' anthropometric measurements,body fat analysis,biochemical analysis, GI and glycemic load(GL),arterial stiffness measurements,and echocardiographic findings were recorded.
The PKU patient group's glucose,total cholesterol,LDL,and HDL values were significantly lower than the healthy control group(p = 0.010 for glucose and p = 0.001 for total cholesterol,LDL and HDL).Triglyceride levels were higher in the PKU patient group than in the healthy controls(109.6 vs. 76.7 mg/dl,p = 0.001). GI and GL were significantly lower in the PKU patient group than in the healthy control group(GI 453 vs. 392.9,p = 0.017 and GL 101.1 vs. 85.5,p = 0.036).Left ventricular mass(LVM)-z-score and LVM index were significantly higher in the PKU group than in the healthy control group(LVM z-score 0.9 vs. 0.5,p = 0.014 and LVM index 38.9 vs. 32.7 g/m,p = 0.001). A moderately statistically significant positive correlation was found between the mean phenylalanine(phe) value and pulse wave velocity(PWV) among the PKU patient groups(R: 0.477,p < 0.001).A moderately statistically significant positive correlation was also found between waist circumference and PWV in the PKU patient group(R:0.541, p < 0.001).
Our study found that close follow-up of phe levels and PWV is more critical than obesity, GI, and GL in the cardiovascular evaluation of classical PKU patients.A large number of multicenter pediatric studies are needed in this area.
比较血糖指数（GI）、肥胖、超声心动图和动脉僵硬测量值与健康对照组，以评估儿科经典苯丙酮尿症（PKU）的心血管风险。
本研究为前瞻性观察性研究，纳入 2019 年至 2020 年期间的 104 名儿科志愿者。将志愿者分为两组：PKU 患者组和健康对照组。将这两组进一步分为三组：肥胖组、超重组和正常体重组。记录患者的人体测量、体脂分析、生化分析、GI 和血糖负荷（GL）、动脉僵硬测量和超声心动图检查结果。
PKU 患者组的血糖、总胆固醇、LDL 和 HDL 值明显低于健康对照组（血糖：p=0.010；总胆固醇、LDL 和 HDL：p=0.001）。PKU 患者组的甘油三酯水平高于健康对照组（109.6 比 76.7mg/dl，p=0.001）。PKU 患者组的 GI 和 GL 明显低于健康对照组（GI：453 比 392.9，p=0.017；GL：101.1 比 85.5，p=0.036）。PKU 组的左心室质量（LVM）-z 评分和 LVM 指数明显高于健康对照组（LVM-z 评分：0.9 比 0.5，p=0.014；LVM 指数：38.9 比 32.7g/m，p=0.001）。在 PKU 患者组中，平均苯丙氨酸（phe）值与脉搏波速度（PWV）之间存在中度统计学显著正相关（R：0.477，p<0.001）。在 PKU 患者组中，腰围与 PWV 之间也存在中度统计学显著正相关（R：0.541，p<0.001）。
本研究发现，与肥胖、GI 和 GL 相比，密切监测 phe 水平和 PWV 对经典 PKU 患者的心血管评估更为重要。在这一领域需要开展大量的多中心儿科研究。
