Department of Nutrition and Dietetics, Faculty of Health Sciences, Kocaeli University, Kocaeli, Türkiye.
Department of Medical Pharmacology, Ankara University Faculty of Medicine, Ankara, Türkiye.
Orphanet J Rare Dis. 2024 Feb 20;19(1):78. doi: 10.1186/s13023-024-03079-z.
The present study aimed to determine the problems, unmet needs and expectations of phenylketonuria (PKU) patients in Türkiye regarding follow-up and treatment in order to provide data for future planning and implementations on PKU.
The study included patients diagnosed with PKU and/or their parents. They were informed about the study via phone calls and their verbal consents were obtained. Questions in the data collection forms, which were established separately for pediatric, adolescent, and adult age groups, were applied during the interviews and the answers were recorded.
Among 182 classical PKU patients, 66 (36.3%) were in the pediatric group (0-12 years old), 44 (24.2%) were in the adolescent group (13-19 years old), and 72 (39.5%) were in the adult group (≥ 20 years old). In all patient groups, phenylalanine-restricted diet and medical nutrition products were the main options for treatment. The median of the last measured blood phenylalanine concentration (patient-reported) was 290 µmol/L, 425 µmol/L, and 750 µmol/L in the pediatric, adolescent, and adult groups, respectively. The frequency of blood testing for serum phenylalanine level according to the age groups was appropriate in nearly half of the patients. While the majority of the patients have been visiting the metabolism center they have been diagnosed with PKU for control, considerable proportion of the patients would like to change the center or the doctor they visit for control if they could. It was determined that nearly half of the patients had trouble in accessing the metabolism center. Treatment options' being limited and expensive were the major problems. The main requests of the patients and patient relatives included easier access to the metabolism centers and more options for treatment and diet.
Access to the services should be easier to improve the patients' follow-up and treatment. There is need for low-cost, easily applicable, and accessible nutrition products and effective novel pharmacological agents. Focusing on these issues in health policies by providing pedagogic/psychological support, establishing support programs also comprising the families, and increasing the awareness activities were the key outcomes.
本研究旨在确定土耳其苯丙酮尿症（PKU）患者在随访和治疗方面存在的问题、未满足的需求和期望，为 PKU 的未来规划和实施提供数据。
该研究纳入了确诊为 PKU 的患者及其父母。通过电话告知他们研究的相关信息，并获得了他们的口头同意。在访谈中，分别为儿科、青少年和成年年龄组设立了数据收集表，向患者提出问题并记录答案。
在 182 例经典 PKU 患者中，66 例（36.3%）为儿科组（0-12 岁），44 例（24.2%）为青少年组（13-19 岁），72 例（39.5%）为成年组（≥20 岁）。在所有患者组中，限制苯丙氨酸饮食和使用医学营养产品是主要的治疗选择。根据年龄组，最后一次测量的血液苯丙氨酸浓度（患者报告）中位数分别为儿科组 290µmol/L、青少年组 425µmol/L 和成年组 750µmol/L。近一半的患者按照年龄组适当进行了血液检测血清苯丙氨酸水平。虽然大多数患者一直在就诊的代谢中心进行控制，但相当一部分患者如果可以的话，希望更换他们就诊的中心或医生。结果发现，近一半的患者难以获得代谢中心的服务。治疗选择有限且昂贵是主要问题。患者及其家属的主要诉求包括更容易获得代谢中心服务以及更多的治疗和饮食选择。
为了改善患者的随访和治疗，应该更容易获得服务。需要低成本、易于应用和可获得的营养产品和有效的新型药物。通过提供教育学/心理学支持、建立包括家庭在内的支持计划以及增加意识活动，在卫生政策中关注这些问题是关键。
