Department of Internal Medicine, University Hospital of Santiago de Compostela, A Coruña, Spain.
Department of Internal Medicine, Hospital of El Bierzo, Leon, Spain.
Med Clin (Barc). 2023 May 12;160(9):385-391. doi: 10.1016/j.medcli.2022.09.025. Epub 2023 Jan 9.
Some studies have pointed to a relationship between Phenyketonuria (PKU) and an increased cardiovascular risk (CVR). This study aimed to evaluate the influence of metabolic control on classical CVR factors in adult patients with PKU.
It was a cross-sectional study conducted in patients older than 18 years with a diagnosis of classical PKU and under strict dietary control. Demographic, epidemiological and laboratory variables related to CVR were collected. The variables of metabolic control were some parameters related to phenylalanine (Phe) plasma levels.
A total of 47 patients were included with a mean age of 36±10 years of which 30 (64%) were women. Multivariate analysis revealed that range Phe (B=-2.211, P=0.044, 95%CI: -4.354-(-0.068)) levels were within the model for triglyceride concentrations, while minimum (B=-2.803, P=0.051, 95%CI: -5.612-0.007) and range (B=-1.515, P=0.039, 95%CI: -2.945-(-0.084)) Phe levels were within the model for high-density lipoprotein cholesterol concentrations. Median Phe levels showed a stronger correlation with waist circumference (WC) (B=1.216, P=0.002, 95%CI: 0.462-1.969) than with body mass index (B=0.355, P=0.052, 95%CI: -0.004-0.714).
High Phe levels and wide Phe fluctuations were related to weight gain, increased WC and lipid profile abnormalities. Systematic CVR assessments and comprehensive monitoring of Phe levels may be desirable to prevent or delay cardiovascular disease in PKU patients.
一些研究表明苯丙酮尿症（PKU）与心血管风险（CVR）增加之间存在关系。本研究旨在评估成年 PKU 患者代谢控制对经典 CVR 因素的影响。
这是一项横断面研究，纳入了年龄大于 18 岁且经严格饮食控制确诊为经典 PKU 的患者。收集了与 CVR 相关的人口统计学、流行病学和实验室变量。代谢控制变量是与苯丙氨酸（Phe）血浆水平相关的一些参数。
共纳入 47 例患者，平均年龄为 36±10 岁，其中 30 例（64%）为女性。多变量分析显示，范围内 Phe（B=-2.211，P=0.044，95%CI：-4.354-（-0.068））水平与甘油三酯浓度模型相关，而最小（B=-2.803，P=0.051，95%CI：-5.612-0.007）和范围内（B=-1.515，P=0.039，95%CI：-2.945-（-0.084））Phe 水平与高密度脂蛋白胆固醇浓度模型相关。中位数 Phe 水平与腰围（WC）的相关性强于体重指数（B=1.216，P=0.002，95%CI：0.462-1.969）（B=0.355，P=0.052，95%CI：-0.004-0.714）。
高 Phe 水平和宽范围的 Phe 波动与体重增加、WC 增加和血脂谱异常有关。系统的 CVR 评估和全面监测 Phe 水平可能有助于预防或延迟 PKU 患者的心血管疾病。
