Lopez-Campos Jose Luis, Casas-Maldonado Francisco, Torres-Duran Maria, Medina-Gonzálvez Agustin, Rodriguez-Fidalgo Maria Luisa, Carrascosa Ines, Calle Myriam, Osaba Lourdes, Rapun Noelia, Drobnic Estrella, Miravitlles Marc
Unidad Médico-Quirúrgica de Enfermedades Respiratorias. Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/Universidad de Sevilla, Spain; CIBER de Enfermedades Respiratorias (CIBERES). Instituto de Salud Carlos III, Madrid, Spain.
Servicio de Neumología. Hospital Universitario San Cecilio. Departamento de Medicina, Facultad de Medicina, Universidad de Granada, Granada, Spain.
Arch Bronconeumol (Engl Ed). 2021 Jan;57(1):42-50. doi: 10.1016/j.arbres.2020.04.014. Epub 2020 Jul 14.
The objective of this analysis was the evaluation of a new national circuit used for diagnosing alpha1 antitrypsin deficiency (AATD) based on multiplex technology using online registration and mail posted samples from dried blood spots (DBS) and buccal swabs.
This is an observational, ongoing study conducted in Spain since March 2018. Samples are coded on a web platform and sent by postal mail to the central laboratory. Allele-specific genotyping for the 14 most common mutations was done with the Luminex 200 Instrument System. Gene sequencing was done if none of the mutations were found and the AAT serum level was <60mg/dl, or by request from the clinician in charge.
At the time of the present report, 5803 (92.9%) samples were processed, 4984 (85.9%) from buccal swab and 819 (14.1%) from DBS. The prevalence of the frequent allele combinations were: MS 19.0%, MZ 14.4%, SS 2.9%, SZ 3.7%, and ZZ: 1.4%. Globally, Z carriers represented 20.0% and S carriers 26.6% of this population, with differences seen between regions. 209 (3.6%) were identified carrying rare alleles, 12 (0.2%) carrying null alleles and 14 (0.3%) new mutations were described. Respiratory diseases other than COPD, including poorly controlled asthma or bronchiectasis, also presented AATD mutations.
The availability of a diagnostic system based on the simultaneous testing of 14 genetic variants from buccal swabs or DBS sent by postal mail and with web registration has proven to be useful, and the system can improve the timely diagnosis of AATD.
本分析的目的是评估一种基于多重技术的新型全国性检测流程，该流程利用在线注册以及来自干血斑（DBS）和口腔拭子的邮寄样本诊断α1抗胰蛋白酶缺乏症（AATD）。
这是一项自2018年3月起在西班牙开展的正在进行的观察性研究。样本在网络平台上编码，然后通过邮政邮件发送至中央实验室。使用Luminex 200仪器系统对14种最常见的突变进行等位基因特异性基因分型。如果未发现任何突变且AAT血清水平<60mg/dl，或者应主管临床医生的要求，则进行基因测序。
在撰写本报告时，已处理5803份样本（92.9%），其中4984份（85.9%）来自口腔拭子，819份（14.1%）来自干血斑。常见等位基因组合的患病率分别为：MS 19.0%、MZ 14.4%、SS 2.9%、SZ 3.7%和ZZ：1.4%。总体而言，Z等位基因携带者占该人群的20.0%，S等位基因携带者占26.6%，不同地区存在差异。已鉴定出209人（3.6%）携带罕见等位基因，12人（0.2%）携带无效等位基因，并描述了14种（0.3%）新突变。慢性阻塞性肺疾病（COPD）以外的呼吸系统疾病，包括控制不佳的哮喘或支气管扩张，也存在AATD突变。
基于对通过邮政邮件发送并进行网络注册的口腔拭子或干血斑中的14种基因变异进行同步检测的诊断系统已被证明是有用的，该系统可以改善AATD的及时诊断。
