Open AccessClinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma
Author(s) -
Aiello Marina,
Frizzelli Annalisa,
Marchi Laura,
Ferrarotti Ilaria,
Piloni Davide,
Pelà Giovanna,
De Simoni Alessandro,
D'Aloisio Lorenzo,
Calzetta Luigino,
Chetta Alfredo
Publication year - 2022
Publication title -
respirology case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.304
H-Index - 9
ISSN - 2051-3380
DOI - 10.1002/rcr2.936
Subject(s) - alpha 1 antitrypsin deficiency , cirrhosis , gene , alpha (finance) , disease , genetics , chronic liver disease , mutation , biology , medicine , immunology , pathology , nursing , construct validity , patient satisfaction
Abstract Alpha‐1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. Several mutations of SERPINA1 have been described associated with the development of pulmonary emphysema and/or chronic liver disease and cirrhosis. Here, we report a very rare PI *Q0parma variant identified for the first time in an Italian family originally from the city of Parma in Northern Italy