Amati Francesco, Gramegna Andrea, Contarini Martina, Stainer Anna, Curcio Cristina, Aliberti Stefano, Corsico Angelo Guido, Blasi Francesco
Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20072 Milan, Italy.
IRCCS Humanitas Research Hospital, Respiratory Unit, Via Manzoni 56, 20089 Milan, Italy.
Biomedicines. 2022 Dec 14;10(12):3248. doi: 10.3390/biomedicines10123248.
Cystic fibrosis (CF) and alpha-1 antitrypsin (AAT) deficiency are two of the commonest genetic diseases affecting the Caucasian population. Neutrophil-mediated inflammation due to protease-antiprotease imbalance leads to progressive pulmonary involvement in both diseases. The aim of this study was to investigate the prevalence of AAT deficiency in CF adults. A prospective study enrolling CF adults was conducted at the Adult CF Center based in Milan from January 2018 to March 2019. Patients were tested for AAT serum protein quantification and expanded genotyping characterization of SERPINA1 during clinical stability. Genotyping characterization of SERPIN1 was compared to a control population of 2848 Caucasian individuals with the same geographical origin and similar demographic characteristics. Among 173 patients included in the study, the prevalence of AAT deficiency was 0. Genotype analysis was piMM in 166 (94.9%) patients and piMS in 9 patients (5.1%), respectively. No differences in terms of genotype characterization were found between the CF population and the control population. These data show that AAT deficiency is not common among adults with CF.
囊性纤维化（CF）和α-1抗胰蛋白酶（AAT）缺乏症是影响白种人群的两种最常见的遗传疾病。蛋白酶-抗蛋白酶失衡导致的中性粒细胞介导的炎症会使这两种疾病都出现进行性肺部受累。本研究的目的是调查成年CF患者中AAT缺乏症的患病率。2018年1月至2019年3月，在米兰的成人CF中心开展了一项纳入成年CF患者的前瞻性研究。在临床稳定期对患者进行AAT血清蛋白定量检测和SERPINA1基因分型扩展特征分析。将SERPIN1基因分型特征与2848名具有相同地理来源和相似人口统计学特征的白种人对照人群进行比较。在纳入研究的173例患者中，AAT缺乏症的患病率为0。基因分型分析显示，166例（94.9%）患者为piMM基因型，9例（5.1%）患者为piMS基因型。CF人群与对照人群在基因型特征方面未发现差异。这些数据表明，AAT缺乏症在成年CF患者中并不常见。
