Un déficit sévère en alpha1-antitrypsine révélé par un ictère néonatal

Abstract

AbstractAlpha 1-antitrypsin is a glycoprotein mainly produced by hepatocytes; the main role is the protection of pulmonary parenchyma by inhibiting pro-inflammatory proteases like elastase released by neutrophils during inflammation. One of the most common genetic diseases is severe AAT deficiency. The clinical manifestation are pulmonary involvement with emphysema, liver disease, which may progress to cirrhosis and more rarely panniculitis; its biological translation is a decrease of AAT serum level. We report here the case of a severe deficit discovered in a newborn with neonatal jaundice.