北马其顿两年新生儿囊性纤维化筛查:首次经验。

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY
Balkan Journal of Medical Genetics Pub Date : 2021-07-27 eCollection Date: 2021-06-01 DOI:10.2478/bjmg-2021-0015
S Fustik, V Anastasovska, D Plaseska-Karanfilska, A Stamatova, L Spirevska, M Pesevska, M Terzikj, M Vujovic
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引用次数: 3

摘要

新生儿囊性纤维化筛查(NBS)在降低疾病严重程度、改善生活质量、降低治疗负担和降低成本方面的益处已被广泛接受。世界上越来越多的国家将国家统计局纳入CF的国家预防保健方案。北马其顿共和国(RNM)在2018年进行了为期6个月的试点研究后,于2019年4月推出了新生儿CF筛查。进行两步免疫反应性胰蛋白酶原(IRT-IRT)算法,然后在IRT值均超过临界值(分别为70.0和45.0 ng/mL)时进行汗液试验以确认/排除CF诊断。对确诊为CF(汗液氯化物浓度>60.0 mmol/L)或汗液试验结果中等(汗液氯化物浓度介于30.0 ~ 59.0 mmol/L)的病例,进行CF跨膜电导调节因子(CFTR)突变分析。截至2020年底,在包括中试期在内的27个月的时间里,共筛查了43139名新生儿CF,其中17名(0.039%)新生儿被诊断为CF。在所有筛查新发现的CF病例中,通过检测CFTR突变来确诊CF。最常见的CFTR突变为F508del,总发病率为70.6%。其他更常见的突变是G542X(11.8%)和N1303K(5.9%)。在1个CFTR等位基因中分别发现了4个突变:G1349D、G126D、457TAT>G和CFTRdupexon22,最后一个是新发现的,结果未知。在马其顿和阿尔巴尼亚的新生儿人群中发现了令人难以置信的巨大差异,阿尔巴尼亚人的患病率几乎高出四倍(1:4530比1:1284)。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Two Years of Newborn Screening for Cystic Fibrosis in North Macedonia: First Experience.

Two Years of Newborn Screening for Cystic Fibrosis in North Macedonia: First Experience.

There is a widely accepted consensus on the benefits of newborn screening (NBS) for cystic fibrosis (CF) in terms of reduced disease severity, improved quality of life, lower treatment burden, and reduced costs. More and more countries in the world are introducing NBS for CF as a national preventive health program. Newborn screening for CF was introduced in the Republic of North Macedonia (RNM) in April, 2019, after a pilot study of 6 months in 2018. A two-step immunoreactive trysinogen (IRT-IRT) algorithm is performed, and then a sweat test for confirmation/exclusion of the CF diagnosis when the IRT values were both over the cutoff (70.0 and 45.0 ng/mL, respectively). In cases with confirmed diagnosis of CF (a sweat chloride concentration >60.0 mmol/L) or with intermediate sweat test results (a sweat chloride concentration of between 30.0 and 59.0 mmol/L), CF transmembrane conductance regulator (CFTR) mutation analysis is performed. By the end of 2020, over a period of 27 months, including the pilot study period, a total number of 43,139 newborns were screened for CF. Seventeen (0.039%) newborns were diagnosed with CF. In all newly discovered CF cases by screening, the diagnosis was confirmed by determination of the CFTR mutations. The most common CFTR mutation, F508del, was found with an overall incidence of 70.6%. Other more frequent mutations were G542X (11.8%) and N1303K (5.9%). Four mutations were found in one CFTR allele each: G1349D, G126D, 457TAT>G and CFTRdupexon22, with the last one being newly discovered with unknown consequences. An incredibly large difference was found in the incidence of the disease between the Macedonian and Albanian neonatal population, with almost four time higher prevalence among Albanians (1:4530 vs. 1:1284).

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来源期刊
CiteScore
1.00
自引率
0.00%
发文量
0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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