History of the first description of childhood liver disease in AATD

Abstract

This supplement celebrates the 50th anniversary of Alpha-1 antitrypsin deficiency (AATD). Initially AATD was associated with an inherited form of emphysema. This historical article describes the predisposition of AATD to liver disease. The morphologic findings contributed to a better understanding of low serum levels of A1 AT by the finding of AAT accumulating and stuck in the lumen of the rough endoplasmic reticulum of the hepatocyte. Thus, only low levels of PiZ were secreted for the rest of the human body and the only clinical correction was by liver transplantation. © 2013 Informa Healthcare USA, Inc.