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Clinical manifestations in patients with PI*MM(Malton) genotypes. A matter still unsolved in alpha‐1 antitrypsin deficiency

We report the genetic variants associated with alpha‐1 antitrypsin deficiency (AATD) in 117 patients admitted to our outpatient clinic and characterized by a serum concentration of AAT lower than 113 mg/dL. We focused on the M‐like heterozygous variant of the SERPINA1 gene called PI*MM(Malton), and...

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Autores principales: Aiello, Marina, Fantin, Alberto, Longo, Chiara, Ferrarotti, Ilaria, Bertorelli, Giuseppina, Chetta, Alfredo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7029433/
https://www.ncbi.nlm.nih.gov/pubmed/32076552
http://dx.doi.org/10.1002/rcr2.528
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author Aiello, Marina
Fantin, Alberto
Longo, Chiara
Ferrarotti, Ilaria
Bertorelli, Giuseppina
Chetta, Alfredo
author_facet Aiello, Marina
Fantin, Alberto
Longo, Chiara
Ferrarotti, Ilaria
Bertorelli, Giuseppina
Chetta, Alfredo
author_sort Aiello, Marina
collection PubMed
description We report the genetic variants associated with alpha‐1 antitrypsin deficiency (AATD) in 117 patients admitted to our outpatient clinic and characterized by a serum concentration of AAT lower than 113 mg/dL. We focused on the M‐like heterozygous variant of the SERPINA1 gene called PI*MM(Malton), and describe three patients with this variant. While the role of homozygous AATD in liver and pulmonary disease is well established, the association between heterozygous AATD and chronic liver and pulmonary disease is still under investigation. The PI*MM(Malton) genotype was found in 5.8% of patients with a pathological genotype of AATD and in 14.3% of the subjects when considering only those with intermediate AATD. There were no liver or renal abnormalities in patients with the PI*MM(Malton) genotype. The PI*MM(Malton) patients included here showed a normal liver function, and none had renal function abnormalities or abdominal aortic aneurysm. Only a prevalence of lung disease was detected.
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spelling pubmed-70294332020-02-19 Clinical manifestations in patients with PI*MM(Malton) genotypes. A matter still unsolved in alpha‐1 antitrypsin deficiency Aiello, Marina Fantin, Alberto Longo, Chiara Ferrarotti, Ilaria Bertorelli, Giuseppina Chetta, Alfredo Respirol Case Rep Case Series We report the genetic variants associated with alpha‐1 antitrypsin deficiency (AATD) in 117 patients admitted to our outpatient clinic and characterized by a serum concentration of AAT lower than 113 mg/dL. We focused on the M‐like heterozygous variant of the SERPINA1 gene called PI*MM(Malton), and describe three patients with this variant. While the role of homozygous AATD in liver and pulmonary disease is well established, the association between heterozygous AATD and chronic liver and pulmonary disease is still under investigation. The PI*MM(Malton) genotype was found in 5.8% of patients with a pathological genotype of AATD and in 14.3% of the subjects when considering only those with intermediate AATD. There were no liver or renal abnormalities in patients with the PI*MM(Malton) genotype. The PI*MM(Malton) patients included here showed a normal liver function, and none had renal function abnormalities or abdominal aortic aneurysm. Only a prevalence of lung disease was detected. John Wiley & Sons, Ltd 2020-02-19 /pmc/articles/PMC7029433/ /pubmed/32076552 http://dx.doi.org/10.1002/rcr2.528 Text en © 2020 The Authors. Respirology Case Reports published by John Wiley & Sons Australia, Ltd on behalf of The Asian Pacific Society of Respirology This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Series
Aiello, Marina
Fantin, Alberto
Longo, Chiara
Ferrarotti, Ilaria
Bertorelli, Giuseppina
Chetta, Alfredo
Clinical manifestations in patients with PI*MM(Malton) genotypes. A matter still unsolved in alpha‐1 antitrypsin deficiency
title Clinical manifestations in patients with PI*MM(Malton) genotypes. A matter still unsolved in alpha‐1 antitrypsin deficiency
title_full Clinical manifestations in patients with PI*MM(Malton) genotypes. A matter still unsolved in alpha‐1 antitrypsin deficiency
title_fullStr Clinical manifestations in patients with PI*MM(Malton) genotypes. A matter still unsolved in alpha‐1 antitrypsin deficiency
title_full_unstemmed Clinical manifestations in patients with PI*MM(Malton) genotypes. A matter still unsolved in alpha‐1 antitrypsin deficiency
title_short Clinical manifestations in patients with PI*MM(Malton) genotypes. A matter still unsolved in alpha‐1 antitrypsin deficiency
title_sort clinical manifestations in patients with pi*mm(malton) genotypes. a matter still unsolved in alpha‐1 antitrypsin deficiency
topic Case Series
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7029433/
https://www.ncbi.nlm.nih.gov/pubmed/32076552
http://dx.doi.org/10.1002/rcr2.528
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