National Center for Birth Defects Monitoring of China, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, P. R. China.
Department of Obstetrics, National Office for Maternal and Child Health Surveillance of China, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, P. R. China.
J Pediatr Endocrinol Metab. 2021 Apr 12;34(7):835-841. doi: 10.1515/jpem-2021-0077. Print 2021 Jul 27.
Tetrahydrobiopterin deficiency (BH4D), a less common form of hyperphenylalaninemia (HPA), can lead to severe developmental retardation if untreated. Little has been reported on the prevalence of BH4D among live births worldwide. This study examined its prevalence across China and between geographical areas within the country.
We analyzed data from the Chinese national screening program for HPA in newborns between 2013 and 2019. BH4D prevalence was examined by province, region and the entire country. Provincial-level prevalence was estimated from the number of confirmed BH4D cases and screened newborns, after adjusting for HPA-positive recall rate. Regional- and national-level prevalences were estimated by summing provincial-level prevalences after weighting them by the number of live births. A Poisson distribution was assumed in order to calculate 95% confidence intervals (CIs) for prevalence.
Among 107,078,115 newborns screened for HPA in China, 380 with BH4D were identified, corresponding to a total prevalence of 3.8 per 1,000,000 live births. Prevalence was higher in eastern regions (5.9 per 1,000,000) and northern regions (4.1 per 1,000,000) of China than in southern regions (1.6 per 1,000,000) or northwestern regions (1.7 per 1,000,000). Across the entire country, 3.9% cases of HPA were diagnosed as BH4D, and this proportion reached as high as 15.1% in the southern part of the country.
These first insights into BH4D prevalence across China suggest slightly higher prevalence than in other countries, and it varies substantially by region. More attention should be paid to early diagnosis and timely treatment of BH4D.
四氢生物蝶呤缺乏症（BH4D）是高苯丙氨酸血症（HPA）的一种较不常见形式，如果不治疗，可能会导致严重的发育迟缓。全球范围内关于 BH4D 在活产儿中的患病率的报道甚少。本研究检测了中国各地的 BH4D 患病率。
我们分析了 2013 年至 2019 年期间中国新生儿 HPA 全国筛查计划的数据。通过省份、地区和全国范围来检查 BH4D 的患病率。根据确诊 BH4D 病例数和筛查新生儿数，调整 HPA 阳性召回率后，计算各省的患病率。通过对各省患病率进行加权，再相加得出地区和全国的患病率。采用泊松分布计算患病率的 95%置信区间（CI）。
在中国筛查 HPA 的 107,078,115 名新生儿中，发现 380 例 BH4D，总患病率为每 100 万活产儿 3.8 例。中国东部（5.9/100 万）和北部（4.1/100 万）地区的患病率高于南部（1.6/100 万）和西北部（1.7/100 万）地区。全国范围内，3.9%的 HPA 病例被诊断为 BH4D，南部地区这一比例高达 15.1%。
这些关于中国 BH4D 患病率的初步研究表明，中国的患病率略高于其他国家，且地区间差异很大。应更加关注 BH4D 的早期诊断和及时治疗。
