Div Nutrition and Metabolism, Children's Hospital, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Mol Genet Metab. 2011;104 Suppl:S31-9. doi: 10.1016/j.ymgme.2011.08.005. Epub 2011 Aug 10.
In recent years our understanding of the follow up policies for PKU has increased substantially. In particular, we now understand the importance of maintaining control of blood phenylalanine (phe) concentrations life-long to achieve the best long-term neuropsychological outcomes. The concordance with the follow up strategy remains a key challenge for the future, especially with respect to adolescents and young adults. The recent therapies could ease the burden of the dietary phe restriction for PKU patients and their families. The time may be right for revisiting the guidelines for follow up of PKU in order to address a number of important issues related to PKU management: promotion of breastfeeding to complementary feeding up to 2 years of age for prevention of early growth retardation and later overweight development, treatment advancements for metabolic control, blood phe and tyr variability, routine screening measures for nutritional biomarkers, neurocognitive and psychological assessments, bone pathology, understanding the challenges of compliance and transitioning into adulthood as an individual with PKU and addressing unmet needs in this population.
近年来，我们对苯丙酮尿症（PKU）后续政策的理解有了很大的提高。特别是，我们现在认识到终身控制血苯丙氨酸（phe）浓度对于获得最佳长期神经心理学结果的重要性。未来，与后续策略的一致性仍然是一个关键挑战，特别是对于青少年和年轻成年人而言。最近的治疗方法可以减轻 PKU 患者及其家庭对 phe 限制饮食的负担。现在可能是重新审视 PKU 后续管理指南的时候了，以解决与 PKU 管理相关的一些重要问题：提倡母乳喂养至 2 岁，以预防早期生长迟缓以及后期超重发育，促进代谢控制、血 phe 和 tyr 变异性、营养生物标志物的常规筛查措施、神经认知和心理评估、骨病理学的治疗进展，了解顺应性的挑战以及作为 PKU 患者过渡到成年期，以及满足该人群的未满足需求。
