Division of Metabolic Diseases, Bambino Gesù Children's Hospital, Rome, Italy.
Acta Paediatr. 2011 Aug;100(8):1144-9. doi: 10.1111/j.1651-2227.2011.02227.x. Epub 2011 Apr 20.
To investigate adherence to dietary treatment and quality of life (QoL) in patients with phenylketonuria (PKU).
In the setting of a tertiary paediatric hospital, 41 early-treated patients affected by PKU aged more than 3 years old were enrolled in a cross-sectional study. Three-days dietary assessment, QoL questionnaires for patients<18 years old (Child Health Questionnaire) and Short Form for adults were completed.
Of 41 patients, 23 (56.1%) were considered adherent to the dietary prescriptions as their phenylalanine intake was less than prescribed. Phenylalanine intake was significantly in excess of prescribed if mothers had a lower level of education. Adherence was not correlated with age. Metabolic control was obtained in 41.5-51.2% of the patients depending on the target. QoL was reduced in children and adolescents. There was no significant correlation between adherence and QoL, except for the domains of Global Health and Family Activities (ρ=0.42 and 0.46, respectively). The overall agreement between adherence and metabolic control varied according to different targets of metabolic control (51.2-65.9%).
It is necessary to improve the adherence to diet and the QoL in children and adolescents affected by PKU.
调查苯丙酮尿症（PKU）患者对饮食治疗的依从性和生活质量（QoL）。
在一家三级儿科医院，我们对 41 名年龄大于 3 岁的早发性 PKU 患者进行了横断面研究。完成了 3 天饮食评估、<18 岁患者的 QoL 问卷（儿童健康问卷）和成人短表。
41 名患者中，23 名（56.1%）患者的苯丙氨酸摄入量低于规定剂量，被认为遵守了饮食规定。如果母亲的受教育程度较低，苯丙氨酸的摄入量明显超过规定剂量。依从性与年龄无关。根据目标，41.5-51.2%的患者达到了代谢控制。儿童和青少年的 QoL 降低。除了整体健康和家庭活动领域（分别为ρ=0.42 和 0.46），依从性与 QoL 之间没有显著相关性。饮食和代谢控制之间的总体一致性因不同的代谢控制目标而异（51.2-65.9%）。
有必要改善 PKU 患儿的饮食依从性和生活质量。
