Sherman Victoria, Kondratyeva Elena, Kashirskaya Nataliya, Voronkova Anna, Nikonova Victoria, Zhekaite Elena, Kutsev Sergey
Research Centre for Medical Genetics, 115522 Moscow, Russia;
Int J Neonatal Screen. 2020 Apr 14;6(2):34. doi: 10.3390/ijns6020034. eCollection 2020 Jun.
In order to assess the effectiveness of the detection of cystic fibrosis (CF) patients by screening compared with diagnoses based on clinical manifestations, the data of the National CF Patient Registry (NCFPR) from the year 2012 (group I: children aged 6-9 years, diagnosed prior to the start of screening) were compared with the data in the NCFPR from the year 2015 (group II: children 6-9 years after the start of screening) for CF patients from the Moscow region. Homozygotes for c.1521_1523delCTT (F508del) were separately compared in both groups. The average diagnosis age, genotype, body mass index, spirometry data, pulmonary infection, medications, and presence of complications were analyzed. This study demonstrated that in the c.1521_1523delCTT (F508del) homozygote group, the patients diagnosed by screening had significant advantages over the patients born before the start of newborn screening in the diagnosis age, the number of patients with chronic infection, the pulmonary function, and the growth in the percentiles. Newborn screening (NBS) detects nearly twice as many CF patients as the diagnostics based on clinical symptoms during the same time period. Importantly, patients will benefit from the early diagnosis of the disease and the early start of therapy.
为了评估通过筛查检测囊性纤维化（CF）患者与基于临床表现进行诊断相比的有效性，将2012年俄罗斯国家CF患者登记处（NCFPR）的数据（第一组：6 - 9岁儿童，在筛查开始前被诊断）与2015年NCFPR中来自莫斯科地区CF患者的数据（第二组：筛查开始后6 - 9岁儿童）进行了比较。对两组中c.1521_1523delCTT（F508del）纯合子进行了单独比较。分析了平均诊断年龄、基因型、体重指数、肺功能测定数据、肺部感染、用药情况以及并发症的存在情况。本研究表明，在c.1521_1523delCTT（F508del）纯合子组中，通过筛查诊断的患者在诊断年龄、慢性感染患者数量、肺功能以及百分位数增长方面比新生儿筛查开始前出生的患者具有显著优势。在同一时期，新生儿筛查（NBS）检测出的CF患者数量几乎是基于临床症状诊断的两倍。重要的是，患者将从疾病的早期诊断和治疗的早期开始中受益。
