Genetic and Serum Screening for Alpha-1-Antitrypsin Deficiency in Adult Patients with Cystic Fibrosis: A Single-Center Experience
Articolo
Data di Pubblicazione:
2022
Citazione:
Genetic and Serum Screening for Alpha-1-Antitrypsin Deficiency in Adult Patients with Cystic Fibrosis: A Single-Center Experience / F. Amati, A. Gramegna, M. Contarini, A. Stainer, C. Curcio, S. Aliberti, A.G. Corsico, F. Blasi. - In: BIOMEDICINES. - ISSN 2227-9059. - 10:12(2022), pp. 3248.1-3248.8. [10.3390/biomedicines10123248]
Abstract:
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.
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
cystic fibrosis; alpha-1 antitrypsin deficiency; airway inflammation; bronchiectasis
Elenco autori:
F. Amati, A. Gramegna, M. Contarini, A. Stainer, C. Curcio, S. Aliberti, A.G. Corsico, F. Blasi
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