Department of Pediatrics, School of Medicine, Ilam University of Medical Sciences, Ilam, Iran.
School of Nursing and Midwifery, Ahvaz Jundishapour University of Medical Sciences, Ahvaz, Iran.
BMC Pediatr. 2020 Jul 24;20(1):352. doi: 10.1186/s12887-020-02230-6.
Phenylketonuria (PKU), which is characterized by a deficiency of phenylalanine hydroxylase activity, is an autosomal recessive disorder of phenylalanine (Phe) metabolism. Newborn screening is the main population-based public health screening program that allows successful identification and treatment of PKU with low-Phe diet. The aim of this study was to evaluate the epidemiology of PKU screening in Iranian newborns.
The present study was designed based on MOOSE protocol and reporting was done in accordance with the PRISMA guidelines. The protocol of this systematic review was published in PROSPERO before it was performed (CRD42020162626). A comprehensive search was done in 10/10/2019 to find related literature on international online databases Web of Science, Scopus, EMBASE, Science Direct, PubMed/Medline, EBSCO, CINAHL, Cochrane Library, national online databases and the Google Scholar search engine. Heterogeneity among studies was assessed by I index and Q test. All meta-analyses were performed using Comprehensive Meta-Analysis Software ver. 2. P < 0.05 was considered significant.
Finally, 18 studies with 3,339,327 Iranian neonates were included. The prevalence of suspected hyperphenylalaninemia (HPA) was estimated to be 45.6/100,000 (95% CI: 23.9-87.1). The prevalence of suspected HPA in girls and boys infants in Iran was estimated to be 38.0/100,000 (95% CI: 15.1-95.5) and 43.3/100,000 (95% CI: 16.2-116.2), respectively. The prevalence of PKU was estimated to be 16.5/100,000 (95% CI: 12.9-21.2). The prevalence of PKU in girls and boys infants was estimated to be 13.3/100,000 (95% CI: 7.5-15.8) and 10.9/100,000 (95% CI: 7.5-15.8), respectively. The prevalence of mild to moderate HPA was estimated 9.7/100,000 (95% CI: 5.1-18.4) and the prevalence of classical PKU was estimated 4.4/100,000 (95% CI: 2.5-7.8). Sensitivity analysis for all meta-analysis with the omission of one study showed that overall estimation is still robust.
The results of this meta-analysis showed that PKU is prevalent in Iranian neonates. It should be considered that for PKU there is a highly effective dietary treatment which can prevent the clinical symptoms of PKU if initiated early after detection by newborn screening.
苯丙酮尿症（PKU）的特征是苯丙氨酸羟化酶活性缺乏，是一种常染色体隐性遗传的苯丙氨酸（Phe）代谢紊乱。新生儿筛查是一项主要的基于人群的公共卫生筛查计划，通过低苯丙氨酸饮食成功识别和治疗 PKU。本研究旨在评估伊朗新生儿 PKU 筛查的流行病学情况。
本研究根据 MOOSE 协议设计，并按照 PRISMA 指南进行报告。本系统评价的方案在进行之前已在 PROSPERO 上发布（CRD42020162626）。2019 年 10 月 10 日，我们在国际在线数据库 Web of Science、Scopus、EMBASE、Science Direct、PubMed/Medline、EBSCO、CINAHL、Cochrane Library、国家在线数据库和 Google Scholar 搜索引擎中进行了全面搜索，以查找相关文献。使用 I 指数和 Q 检验评估研究之间的异质性。所有荟萃分析均使用 Comprehensive Meta-Analysis Software ver. 2 进行。P<0.05 被认为具有统计学意义。
最终，纳入了 18 项研究，共涉及 3339327 名伊朗新生儿。疑似高苯丙氨酸血症（HPA）的患病率估计为 45.6/100000（95%CI：23.9-87.1）。伊朗男女婴儿疑似 HPA 的患病率估计分别为 38.0/100000（95%CI：15.1-95.5）和 43.3/100000（95%CI：16.2-116.2）。PKU 的患病率估计为 16.5/100000（95%CI：12.9-21.2）。男女婴儿 PKU 的患病率估计分别为 13.3/100000（95%CI：7.5-15.8）和 10.9/100000（95%CI：7.5-15.8）。轻度至中度 HPA 的患病率估计为 9.7/100000（95%CI：5.1-18.4），经典 PKU 的患病率估计为 4.4/100000（95%CI：2.5-7.8）。对所有荟萃分析进行敏感性分析，排除一项研究后，结果表明总体估计仍然稳健。
本荟萃分析结果表明，PKU 在伊朗新生儿中较为普遍。应该认识到，对于 PKU，有一种非常有效的饮食治疗方法，如果通过新生儿筛查早期发现，可以预防 PKU 的临床症状。
