Article révisé par les pairs
| Résumé : | α1 antitrypsin (AAT) deficiency is a significant factor in the pathogenesis of liver disease in children. A family is described in which two infant girls died of severe liver cirrhosis associated with AAT deficiency. This is the first report in Israel of hepatic disease in infancy associated with AAT deficiency. The family is of special interest because of the AAT phenotypes found: the father is PiMZ and the mother is PiFS. The infant whose phenotype was examined had PiSZ. It had been recently maintained that the phenotype SZ also constitutes a high risk situation for the development of liver disease, even though the serum levels of AAT may not be very low. In view of the relatively prominent part that AAT deficiency has been proved to play in pediatric liver disease and the importance of defining the phenotype, the means for evaluating AAT levels and its phenotype should readily be available to the clinician. |
