Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma

Abstract

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

Keywords

• alpha‐1 antitrypsin deficiency
• clinical manifestations
• genotype
• variant