Medford Emma, Hare Dougal Julian, Wittkowski Anja
School of Health Sciences, University of Manchester, Manchester, UK.
Greater Manchester Mental Health NHS Foundation Trust, Manchester, UK.
JIMD Rep. 2018;39:107-116. doi: 10.1007/8904_2017_52. Epub 2017 Aug 25.
Phenylketonuria (PKU) is a rare genetic disorder in which the amino acid phenylalanine cannot be sufficiently metabolised. Although a build-up of phenylalanine causes irreversible cognitive impairment, this can be prevented through a strict, lifelong diet restricted in natural protein. Despite the severe consequences of poor metabolic control, many children and adolescents have phenylalanine levels above their recommended limits. This systematic review was the first to examine studies reporting demographic and/or psychosocial influences on blood phenylalanine levels, with the aim to identify factors that were robustly linked with metabolic control. Four electronic databases were searched, yielding 1,808 articles. Articles were included if they reported a statistical examination of the association between one or more demographic or psychosocial factor(s) and metabolic control (as measured by blood phenylalanine concentration) for children and adolescents with PKU. Twenty-nine studies were selected for inclusion, which examined a range of child, parent and family factors related to blood phenylalanine levels. The most reproducible association was with child age, with metabolic control worsening with increasing age. This suggests that interventions promoting treatment adherence would be particularly beneficial for adolescents. There was a paucity of studies in some areas, and the quality of included studies varied; therefore, the conclusions of this review are preliminary. Research recommendations focus on promoting the growth of the evidence-base to support clinical practice.
苯丙酮尿症（PKU）是一种罕见的遗传性疾病，其中氨基酸苯丙氨酸不能被充分代谢。尽管苯丙氨酸的积累会导致不可逆转的认知障碍，但这可以通过严格的终身天然蛋白质限制饮食来预防。尽管代谢控制不佳会带来严重后果，但许多儿童和青少年的苯丙氨酸水平仍高于推荐限值。这项系统评价首次审视了报告人口统计学和/或社会心理因素对血苯丙氨酸水平影响的研究，目的是确定与代谢控制密切相关的因素。检索了四个电子数据库，共获得1808篇文章。如果文章报告了对患有苯丙酮尿症的儿童和青少年的一种或多种人口统计学或社会心理因素与代谢控制（以血苯丙氨酸浓度衡量）之间关联的统计检验，则纳入该文章。选择了29项研究纳入，这些研究考察了一系列与血苯丙氨酸水平相关的儿童、父母和家庭因素。最具重复性的关联是与儿童年龄有关，随着年龄增长，代谢控制会恶化。这表明促进治疗依从性的干预措施对青少年尤其有益。某些领域的研究较少，且纳入研究的质量参差不齐；因此，本评价的结论是初步的。研究建议侧重于促进证据基础的增长以支持临床实践。
