Jurecki E R, Cederbaum S, Kopesky J, Perry K, Rohr F, Sanchez-Valle A, Viau K S, Sheinin M Y, Cohen-Pfeffer J L
Medical Affairs, BioMarin Pharmaceutical, Inc., Novato, CA, United States.
Department of Psychiatry, University of California, Los Angeles, CA, United States; Department of Pediatrics, and Human Genetics, University of California, Los Angeles, CA, United States.
Mol Genet Metab. 2017 Mar;120(3):190-197. doi: 10.1016/j.ymgme.2017.01.001. Epub 2017 Jan 6.
Assess current management practices of phenylketonuria (PKU) clinics across the United States (US) based on the key treatment metrics of blood phenylalanine (Phe) concentrations and blood Phe testing frequency, as well as patient adherence to their clinic's management practice recommendations.
An online survey was conducted with medical professionals from PKU clinics across the US from July to September 2015. Forty-four clinics participated in the survey and account for approximately half of PKU patients currently followed in clinics in the US (Berry et al., 2013).
The majority of PKU clinics recommended target blood Phe concentrations to be between 120 and 360μM for all patients; the upper threshold was relaxed by some clinics for adult patients (from 360 to 600μM) and tightened for patients who are pregnant/planning to become pregnant (to 240μM). Patient adherence to these recommendations (percentage of patients with blood Phe below the upper recommended threshold) was age-dependent, decreasing from 88% in the 0-4years age group to 33% in adults 30+ years. Patient adherence to recommendations for blood testing frequency followed a similar trend. Higher staffing intensity (specialists per 100 PKU patients) was associated with better patient adherence to clinics' blood Phe concentrations recommendations.
Clinic recommendations of target blood Phe concentrations in the US are now stricter compared to prior years, and largely reflect recent guidelines by the American College of Medical Genetics and Genomics (Vockley et al., 2014). Adherence to recommended Phe concentrations remains suboptimal, especially in older patients. However, despite remaining above the guidelines, actual blood Phe concentrations in adolescents and adults are lower than those reported in the past (Walter et al., 2002; Freehauf et al., 2013). Continued education and support for PKU patients by healthcare professionals, including adequate clinic staffing, are needed to improve adherence. Future research is needed to understand how to improve adherence to reduce the number of patients lost to follow-up, as the findings of this and similar surveys do not address how to keep patients in clinic.
基于血苯丙氨酸（Phe）浓度和血Phe检测频率等关键治疗指标，以及患者对其诊所管理实践建议的依从性，评估美国各地苯丙酮尿症（PKU）诊所的当前管理实践。
2015年7月至9月，对美国各地PKU诊所的医学专业人员进行了一项在线调查。44家诊所参与了调查，约占美国目前诊所随访的PKU患者的一半（Berry等人，2013年）。
大多数PKU诊所建议所有患者的目标血Phe浓度在120至360μM之间；一些诊所对成年患者放宽了上限阈值（从360至600μM），对怀孕/计划怀孕的患者收紧了上限阈值（至240μM）。患者对这些建议的依从性（血Phe低于推荐上限阈值的患者百分比）与年龄相关，从0至4岁年龄组的88%降至30岁及以上成年人的33%。患者对血检频率建议的依从性也呈类似趋势。更高的人员配备强度（每100名PKU患者的专科医生数量）与患者对诊所血Phe浓度建议的更好依从性相关。
与前几年相比，美国诊所对目标血Phe浓度的建议现在更加严格，并且在很大程度上反映了美国医学遗传学与基因组学学会最近的指南（Vockley等人，2014年）。对推荐的Phe浓度的依从性仍然不理想，尤其是在老年患者中。然而，尽管仍高于指南水平，但青少年和成年人的实际血Phe浓度低于过去报道的水平（Walter等人，2002年；Freehauf等人，2013年）。医疗保健专业人员需要对PKU患者持续进行教育和提供支持，包括充足的诊所人员配备，以提高依从性。需要未来的研究来了解如何提高依从性以减少失访患者的数量，因为本次及类似调查的结果并未涉及如何让患者留在诊所。
