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Genetic and Serum Screening for Alpha-1-Antitrypsin Deficiency in Adult Patients with Cystic Fibrosis: A Single-Center Experience

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 t...

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Autores principales: Amati, Francesco, Gramegna, Andrea, Contarini, Martina, Stainer, Anna, Curcio, Cristina, Aliberti, Stefano, Corsico, Angelo Guido, Blasi, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9776003/
https://www.ncbi.nlm.nih.gov/pubmed/36552004
http://dx.doi.org/10.3390/biomedicines10123248
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author Amati, Francesco
Gramegna, Andrea
Contarini, Martina
Stainer, Anna
Curcio, Cristina
Aliberti, Stefano
Corsico, Angelo Guido
Blasi, Francesco
author_facet Amati, Francesco
Gramegna, Andrea
Contarini, Martina
Stainer, Anna
Curcio, Cristina
Aliberti, Stefano
Corsico, Angelo Guido
Blasi, Francesco
author_sort Amati, Francesco
collection PubMed
description 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.
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spelling pubmed-97760032022-12-23 Genetic and Serum Screening for Alpha-1-Antitrypsin Deficiency in Adult Patients with Cystic Fibrosis: A Single-Center Experience Amati, Francesco Gramegna, Andrea Contarini, Martina Stainer, Anna Curcio, Cristina Aliberti, Stefano Corsico, Angelo Guido Blasi, Francesco Biomedicines Communication 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. MDPI 2022-12-14 /pmc/articles/PMC9776003/ /pubmed/36552004 http://dx.doi.org/10.3390/biomedicines10123248 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Communication
Amati, Francesco
Gramegna, Andrea
Contarini, Martina
Stainer, Anna
Curcio, Cristina
Aliberti, Stefano
Corsico, Angelo Guido
Blasi, Francesco
Genetic and Serum Screening for Alpha-1-Antitrypsin Deficiency in Adult Patients with Cystic Fibrosis: A Single-Center Experience
title Genetic and Serum Screening for Alpha-1-Antitrypsin Deficiency in Adult Patients with Cystic Fibrosis: A Single-Center Experience
title_full Genetic and Serum Screening for Alpha-1-Antitrypsin Deficiency in Adult Patients with Cystic Fibrosis: A Single-Center Experience
title_fullStr Genetic and Serum Screening for Alpha-1-Antitrypsin Deficiency in Adult Patients with Cystic Fibrosis: A Single-Center Experience
title_full_unstemmed Genetic and Serum Screening for Alpha-1-Antitrypsin Deficiency in Adult Patients with Cystic Fibrosis: A Single-Center Experience
title_short Genetic and Serum Screening for Alpha-1-Antitrypsin Deficiency in Adult Patients with Cystic Fibrosis: A Single-Center Experience
title_sort genetic and serum screening for alpha-1-antitrypsin deficiency in adult patients with cystic fibrosis: a single-center experience
topic Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9776003/
https://www.ncbi.nlm.nih.gov/pubmed/36552004
http://dx.doi.org/10.3390/biomedicines10123248
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