Fifty-one years ago, two scientists from the Malmö University, Carl Bertil Laurell and Sten Eriksson, first reported five individuals affected by inherited alpha1-antitrypsin (α1 -AT) deficiency. Of particular interest, this original nucleus of described patients, already included the spectrum of clinical phenotypic variability associated with this genetic disorder: absence of any respiratory disease, juvenile or late pulmonary emphysema, disseminated bronchiectasis. Since then, knowledge on the related epidemiology, pathophysiology, pathogenesis, clinical course, and treatment has dramatically improved, as evidenced by the authoritative published review articles. Still, there are a number of open questions awaiting on answer.
Inherited alpha1-antitrypsin deficiency: Is the level the key message?
FERRAROTTI, ILARIA;LUISETTI, MAURIZIO
2014-01-01
Abstract
Fifty-one years ago, two scientists from the Malmö University, Carl Bertil Laurell and Sten Eriksson, first reported five individuals affected by inherited alpha1-antitrypsin (α1 -AT) deficiency. Of particular interest, this original nucleus of described patients, already included the spectrum of clinical phenotypic variability associated with this genetic disorder: absence of any respiratory disease, juvenile or late pulmonary emphysema, disseminated bronchiectasis. Since then, knowledge on the related epidemiology, pathophysiology, pathogenesis, clinical course, and treatment has dramatically improved, as evidenced by the authoritative published review articles. Still, there are a number of open questions awaiting on answer.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
