Basic Science Investigations

Aiello M.a· Marchi L.b· Ferrarotti I.c· Frizzelli A.a· Pisi R.a· Calzetta L.a· Manari G.a· Pelà G.d,e· Russo A.f· Minerba R.f· Aloe R.f· Ranzieri S.g· Corradi M.g· Chetta A.a

Author affiliations

aDepartment of Medicine and Surgery, Respiratory Disease and Lung Function Unit, University of Parma, Parma, Italy
bDepartment of Food and Drug, University of Parma, Parma, Italy
cCenter for the Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Department of Internal Medicine and Therapeutics, Pneumology Unit, University of Pavia, Pavia, Italy
dDepartment of Medicine and Surgery, University of Parma, Parma, Italy
eDepartment of General and Specialistic Medicine, University-Hospital of Parma, Parma, Italy
fLaboratory of Clinical Chemistry and Hematology, University Hospital of Parma, Parma, Italy
gDepartment of Medicine and Surgery, Occupational Medicine Unit, University of Parma, Parma, Italy

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Article / Publication Details

First-Page Preview

Received: December 17, 2021
Accepted: June 07, 2022
Published online: July 06, 2022

Number of Print Pages: 8
Number of Figures: 1
Number of Tables: 2

ISSN: 0025-7931 (Print)
eISSN: 1423-0356 (Online)

For additional information: https://www.karger.com/RES

Abstract

Background: Alpha 1 antitrypsin deficiency (AATD) is an autosomal codominant genetic condition that affects Caucasians of the European population due to the presence of a deficient allele of the SERPINA1 gene. A frequency of about 1/5,000 individuals has been estimated in Italy. Objectives: The aim of the study was to evaluate the distribution of the clinical manifestations of severe and intermediate genetic AATD in the geographic area around Parma in Northern Italy. Method: 238 subjects were submitted to molecular analysis of the SERPINA1 gene, and data on anthropometric variables, smoking habits, number of packs per year, AAT serum concentration, and clinical manifestations were recorded and presented as mean ± SD or median values (1st quartile; 3rd quartile). Results: The results show a distribution of genetic AATD of 4.1% of the screened population in the area encompassing the city of Parma. PI*MS and PI*MZ were the most common genotypes at 40.9% and 28.2% of the population with genetic AATD, and asthma and emphysema were the most represented clinical manifestations. Conclusion: Our study allowed to increase the knowledge of the distribution of genetic AATD in Northern Italy providing information regarding frequencies of genotypes and clinical manifestations of the disorder.

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First-Page Preview

Received: December 17, 2021
Accepted: June 07, 2022
Published online: July 06, 2022

Number of Print Pages: 8
Number of Figures: 1
Number of Tables: 2

ISSN: 0025-7931 (Print)
eISSN: 1423-0356 (Online)

For additional information: https://www.karger.com/RES

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