Faculty of Health Sciences, Department of Nutrition and Dietetics, Hacettepe University, 06080 Ankara, Turkey.
Department of Dietetics, Birmingham Children's Hospital, Birmingham B4 6NH, UK.
Nutrients. 2019 Sep 3;11(9):2070. doi: 10.3390/nu11092070.
There is an ongoing debate regarding the impact of phenylketonuria (PKU) and its treatment on growth. To date, evidence from studies is inconsistent, and data on the whole developmental period is limited. The primary aim of this systematic review was to investigate the effects of a phenylalanine (Phe)-restricted diet on long-term growth in patients with PKU. Four electronic databases were searched for articles published until September 2018. A total of 887 results were found, but only 13 articles met eligibility criteria. Only three studies had an adequate methodology for meta-analysis. Although the results indicate normal growth at birth and during infancy, children with PKU were significantly shorter and had lower weight for age than reference populations during the first four years of life. Impaired linear growth was observed until the end of adolescence in PKU. In contrast, growth impairment was not reported in patients with mild hyperphenylalaninemia, not requiring dietary restriction. Current evidence indicates that even with advances in dietary treatments, "optimal" growth outcomes are not attained in PKU. The majority of studies include children born before 1990s, so further research is needed to show the effects of recent dietary practices on growth in PKU.
目前，关于苯丙酮尿症（PKU）及其治疗对生长的影响一直存在争议。迄今为止，研究证据并不一致，且关于整个发育期的数据有限。本系统评价的主要目的是调查限制苯丙氨酸（Phe）饮食对 PKU 患者长期生长的影响。我们在截至 2018 年 9 月的时间范围内检索了四个电子数据库，以查找已发表的文章。共发现了 887 项结果，但只有 13 篇文章符合入选标准。仅有三项研究具有进行荟萃分析的适当方法。尽管结果表明出生时和婴儿期的生长正常，但与参考人群相比，PKU 患儿在生命的头四年中身高明显更矮，且体重/年龄也较低。在青春期结束之前，均观察到线性生长受损。相比之下，在不需要饮食限制的轻度高苯丙氨酸血症患者中并未报告生长受损。目前的证据表明，即使在饮食治疗方面取得了进展，PKU 患者也无法达到“最佳”的生长结局。大多数研究都包括了 20 世纪 90 年代之前出生的儿童，因此需要进一步研究以显示最近的饮食实践对 PKU 生长的影响。
