13 research outputs found
Urgent liver transplantation for acute liver failure due to parvovirus B19 infection complicated by primary Epstein?Barr virus and cytomegalovirus infections and aplastic anaemia
Factors affecting the mortality of pediatric fulminant hepatic failure in relation to hepatitis B virus infection
Resolution of hypophosphatemia is associated with recovery of hepatic function in children with fulminant hepatic failure
Alpha-1 antitrypsin deficiency: A conformational disease associated with lung and liver manifestations
Alpha-1 antitrypsin (A1AT) is a serine anti-protease produced chiefly by the liver. A1AT deficiency is a genetic disorder characterized by serum levels of less than 11 mumol/L and is associated with liver and lung manifestations. The liver disease, which occurs in up to 15% of A1AT-deficient individuals, is a result of toxic gain-of-function mutations in the A1AT gene, which cause the A1AT protein to fold aberrantly and accumulate in the endoplasmic reticulum of hepatocytes. The lung disease is associated with loss-of-function, specifically decreased anti-protease protection on the airway epithelial surface. The so-called \u27Z\u27 mutation in A1AT deficiency encodes a glutamic acid-to-lysine substitution at position 342 in A1AT and is the most common A1AT allele associated with disease. Here we review the current understanding of the molecular pathogenesis of A1AT deficiency and the best clinical management protocols