2 documents found, page 1 of 1
Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant...
Schneider, Carolin V.; Hamesch, Karim; Gross, Annika; Mandorfer, Mattias; Moeller, Linda S.; Pereira, Vitor; Pons, Monica; Kuca, PawelHomozygosity for the Pi∗Z variant of the gene that encodes the alpha-1 antitrypsin peptide (AAT), called the Pi∗ZZ genotype, causes a liver and lung disease called alpha-1 antitrypsin deficiency. Heterozygosity (the Pi∗MZ genotype) is a risk factor for cirrhosis in individuals with liver disease. Up to 4% of Europeans have the Pi∗MZ genotype; we compared features of adults with and without Pi∗MZ genotype among ...
Liver Fibrosis and Metabolic Alterations in Adults With alpha-1-antitrypsin Def...
Hamesch, Karim; Mandorfer, Mattias; Pereira, Vítor Magno; Moeller, Linda S.; Pons, Monica; Dolman, Grace E.; Reichert, Matthias C.BACKGROUND & AIMS: Alpha-1 antitrypsin deficiency (AATD) is among the most common genetic disorders. Severe AATD is caused by a homozygous mutation in the SERPINA1 gene that encodes the Glu342Lys substitution (called the Pi*Z mutation, Pi*ZZ genotype). Pi*ZZ carriers may develop lung and liver diseases. Mutation- associated lung disorders have been well studied, but less is known about the effects in liver. We ...