捷克共和国新生儿筛查发现的罕见病流行病学。
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
作者信息
David Jan, Chrastina Petr, Pešková Karolina, Kožich Viktor, Friedecký David, Adam Tomáš, Hlídková Eva, Vinohradská Hana, Novotná Dana, Hedelová Monika, Al Taji Eva, Holubová Andrea, Skalická Veronika, Macek Milan, Gaillyová Renata, Votava Felix
机构信息
Department of Children and Adolescents, Third Faculty of Medicine, Charles University and University Hospital Kralovske Vinohrady, Prague, Czech Republic.
Department of Paediatrics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
出版信息
Cent Eur J Public Health. 2019 Jun;27(2):153-159. doi: 10.21101/cejph.a5441.
OBJECTIVES
Presymptomatic detection of patients with rare diseases (RD), defined by a population frequency less than 1 : 2,000, is the task of newborn screening (NBS). In the Czech Republic (CZ), currently eighteen RD are screened: phenylketonuria/hyperphenylalaninemia (PKU/HPA), congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), very long chain acyl-CoA dehydrogenase deficiency (VLCADD), carnitine palmitoyl transferase I and II deficiency (CPTID, CPTIID), carnitine-acylcarnitine translocase deficiency (CACTD), maple syrup urine disease (MSUD), glutaric aciduria type I (GA I), isovaleryl-CoA dehydrogenase deficiency (IVA), argininemia (ARG), citrullinemia (CIT), biotinidase deficiency (BTD), cystathionine beta-synthase-deficient homocystinuria (CBSD HCU), and methylenetetrahydrofolate reductase deficiency homocystinuria (MTHFRD HCU). The aim was to analyze the prevalence of RD screened by NBS in CZ.
METHODS
We examined the NBS programme in CZ from 1 January 2010 to 31 December 2017, which covered 888,891 neonates. Dried blood spots were primarily analyzed using fluorescence immuno-assay, tandem mass spectrometry and fluorimetry.
RESULTS
The overall prevalence of RD among the neonate cohort was 1 : 1,043. Individually, 1 : 2,877 for CH, 1 : 5,521 for PKU/HPA, 1 : 6,536 for CF (1 : 5,887 including false negative patients), 1 : 12,520 for CAH, 1 : 22,222 for MCADD, 1 : 80,808 for LCHADD, 1 : 177,778 for GA I, 1 : 177,778 for IVA, 1 : 222,223 for VLCADD, 1 : 296,297 for MSUD, 1 : 8,638 for BTD, and 1 : 181,396 for CBSD HCU.
CONCLUSIONS
The observed prevalence of RD, based on NBS, corresponds to that expected, more precisely it was higher for BTD and lower for MSUD, IVA, CBSD HCU, MCADD and VLCADD. Early detection of rare diseases by means of NBS is an effective secondary prevention tool.
目的
对罕见病患者进行症状前检测，罕见病定义为人群发病率低于1:2000，这是新生儿筛查（NBS）的任务。在捷克共和国（CZ），目前筛查18种罕见病：苯丙酮尿症/高苯丙氨酸血症（PKU/HPA）、先天性甲状腺功能减退症（CH）、先天性肾上腺皮质增生症（CAH）、囊性纤维化（CF）、中链酰基辅酶A脱氢酶缺乏症（MCADD）、长链3-羟基酰基辅酶A脱氢酶缺乏症（LCHADD）、极长链酰基辅酶A脱氢酶缺乏症（VLCADD）、肉碱棕榈酰转移酶I和II缺乏症（CPTID、CPTIID）、肉碱-酰基肉碱转位酶缺乏症（CACTD）、枫糖尿症（MSUD）、I型戊二酸血症（GA I）、异戊酰辅酶A脱氢酶缺乏症（IVA）、精氨酸血症（ARG）、瓜氨酸血症（CIT）、生物素酶缺乏症（BTD）、胱硫醚β-合酶缺乏型高胱氨酸尿症（CBSD HCU）和亚甲基四氢叶酸还原酶缺乏型高胱氨酸尿症（MTHFRD HCU）。目的是分析捷克共和国通过新生儿筛查筛查出的罕见病的患病率。
方法
我们检查了2010年1月1日至2017年12月31日捷克共和国的新生儿筛查项目，该项目涵盖了888,891名新生儿。干血斑主要采用荧光免疫测定、串联质谱法和荧光测定法进行分析。
结果
新生儿队列中罕见病的总体患病率为1:1,043。具体而言，CH为1:2,877，PKU/HPA为1:5,521，CF为1:6,536（包括假阴性患者为1:5,887），CAH为1:12,520，MCADD为1:22,222，LCHADD为1:80,808，GA I为1:177,778，IVA为1:177,778，VLCADD为1:222,223，MSUD为1:296,297，BTD为1:8,638，CBSD HCU为:1:181,396。
结论
基于新生儿筛查观察到的罕见病患病率与预期相符，更确切地说，BTD的患病率较高，而MSUD、IVA、CBSD HCU、MCADD和VLCADD的患病率较低。通过新生儿筛查早期发现罕见病是一种有效的二级预防工具。
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