Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, 34098 Istanbul, Turkey.
Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, 34098 Istanbul, Turkey.
Nutrients. 2024 May 10;16(10):1444. doi: 10.3390/nu16101444.
Phenylketonuria is an inherited metabolic disorder that leads to neurobehavioral dysfunction. The main treatment is a low-phenylalanine diet and/or the cofactor tetrahydrobiopterin. Regular outpatient follow-up care and measurement of the phenylalanine levels in the blood are required. We aimed to analyze the economic burden of phenylketonuria on families and the state. The patients with phenylketonuria were divided into three groups according to their treatment: a low-phenylalanine diet group ( = 50), a tetrahydrobiopterin group ( = 44), and a group taking tetrahydrobiopterin together with the diet ( = 25). A comparative cost analysis was carried out. The annual economic burden to the state was calculated to average EUR 18,801 ± 15,345 and was lowest in the diet group, then in the tetrahydrobiopterin group, and highest in the tetrahydrobiopterin + diet group ( < 0.001). Out-of-pocket costs amounted to EUR 1531 ± 1173 per year, and indirect losses averaged EUR 2125 ± 1930 per year for all families. The economic loss was significantly lower in the families taking tetrahydrobiopterin than in the other groups ( = 0.001). The combined use of medical nutrition and BH4 treatments has been shown to increase the economic burden on the state. Reimbursing low-protein products and increasing the number of patients eligible for financial allowances may reduce the economic burden on families.
苯丙酮尿症是一种遗传性代谢紊乱，可导致神经行为功能障碍。主要治疗方法是低苯丙氨酸饮食和/或辅助因子四氢生物蝶呤。需要定期进行门诊随访护理和血液苯丙氨酸水平测量。我们旨在分析苯丙酮尿症给家庭和国家带来的经济负担。根据治疗方法，将苯丙酮尿症患者分为三组：低苯丙氨酸饮食组（n = 50）、四氢生物蝶呤组（n = 44）和同时服用四氢生物蝶呤和饮食组（n = 25）。进行了成本比较分析。计算出国家每年的经济负担平均为 18801 欧元±15345 欧元，饮食组最低，四氢生物蝶呤组次之，四氢生物蝶呤+饮食组最高（<0.001）。自费支出每年为 1531 欧元±1173 欧元，所有家庭的间接损失平均每年为 2125 欧元±1930 欧元。使用医疗营养和 BH4 联合治疗的家庭经济损失明显低于其他组（=0.001）。联合使用医学营养和 BH4 治疗已被证明会增加国家的经济负担。报销低蛋白产品并增加有资格获得经济补贴的患者数量，可能会减轻家庭的经济负担。
