Background

COVID19 pandemic urged the need to take severe measures for reducing the epidemic spread. Lockdowns were imposed throughout countries and even Inborn errors of metabolism (IEMs) affected patients had to face it and adapt, with management strategies changes coming along. Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism causing, when not treated, blood Phe increases and consequent central nervous system (CNS) damage. Dietary intervention is the main recognized treatment and must be maintained long-life, however adherence is often suboptimal in adulthood. Aim of this study was to evaluate whether and how the pandemic had impacted PKUs metabolic control and what factors may have played a role as potential modifiers.

Methods

Patients ≥4 yo and in follow-up at our Metabolic Clinic were enrolled in this study, divided into subgroups according to age (GROUP A < 12 yo; GROUP B ≥ 12 yo). Videoconsults were conducted on a minimum monthly basis and collected DBS were studied and compared to previous year same time-period in order to evaluate possible changes.

Results

39% of patients (n = 121) increased the number of performed DBS. “Non-compliant” patients were reduced (11–3%) with a − 14% of patients with mean Phe levels >600 umol/l and a − 8% of patients with 100% DBS above same level. GROUP A maintained substantially unchanged metabolic control among two analyzed time-periods. On the contrary, GROUP B demonstrated significant reductions in mean blood Phe concentrations (p < 0.0001) during the pandemic (mean 454 umol/l, SD ± 252, vs. 556.4 umol/l, SD ± 301).

Discussion

COVID19 pandemic strongly impacted people's life with lifestyle habits changing consistently. PKU patients had to adapt their dietary restrictions to the new environment they were exposed to and, if younger patients could have been less exposed (meals strictly according to diet plan independently from setting), adolescent and adults strongly reflected the obligation to stay home by showing better metabolic control. Multiple factors could have played a role in that and the availability of teleconsultancy may have contributed allowing easier connections, but our data demonstrate how the pandemic and the environment can strongly impact PKUs adherence to treatment and how removing distance barriers can ameliorate and optimize metabolic compliance.

中文翻译：

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PKU 和 COVID19：大流行如何改变代谢控制

 背景

新冠肺炎疫情大流行要求采取严厉措施，减少疫情蔓延。各国都实施了封锁，甚至受影响的先天性代谢错误（IEM）患者也必须面对并适应，管理策略也随之变化。苯丙酮尿症 (PKU) 是苯丙氨酸 (Phe) 代谢的先天性错误，如果不及时治疗，会导致血液中 Phe 增加，进而导致中枢神经系统 (CNS) 损伤。饮食干预是公认的主要治疗方法，必须长期维持，但成年后的依从性往往不理想。本研究的目的是评估流感大流行是否以及如何影响 PKU 代谢控制，以及哪些因素可能发挥了潜在调节作用。

 方法

在我们的代谢诊所进行随访的 ≥4 岁患者被纳入本研究，并根据年龄分为亚组（A 组 < 12 岁；B 组 ≥ 12 岁）。至少每月进行一次视频咨询，并对收集的 DBS 进行研究并与去年同期进行比较，以评估可能的变化。

 结果

39% 的患者 ( n = 121) 增加了进行 DBS 的次数。 “不合规”患者减少了 (11–3%)，平均 Phe 水平为 >600 umol/l 的患者减少了 – 14%，100% DBS 高于相同水平的患者减少了 – 8%。 A 组在两个分析时间段内的代谢控制基本保持不变。相反，B 组在大流行期间显示平均血液 Phe 浓度显着降低 ( p < 0.0001)（平均 454 umol/l，SD ± 252，对比 556.4 umol/l，SD ± 301）。

 讨论

新冠肺炎疫情严重影响了人们的生活，生活习惯不断发生变化。 PKU 患者必须调整他们的饮食限制以适应他们所接触的新环境，如果年轻患者可以减少接触（严格按照独立于环境的饮食计划进餐），青少年和成年人强烈反映了待在家里的义务，表现出更好的代谢控制。多种因素可能在其中发挥了作用，远程咨询的可用性可能有助于更轻松地联系，但我们的数据表明，大流行和环境如何强烈影响 PKU 坚持治疗，以及消除距离障碍如何改善和优化代谢依从性。