Article
Hepatobiliary phenotypes of adults with alpha-1 antitrypsin deficiency.
Gut - 1 Feb 2022
Fromme Malin, Schneider Carolin V, Pereira Vitor, Hamesch Karim, Pons Monica, Reichert Matthias C, Benini Federica, Ellis Paul, H Thorhauge Katrine, Mandorfer Mattias, Burbaum Barbara, Woditsch Vivien, Chorostowska-Wynimko Joanna, Verbeek Jef, Nevens Frederik, Genesca Joan, Miravitlles Marc, Nuñez Alexa, Schaefer Benedikt, Zoller Heinz, Janciauskiene Sabina, Abreu Nélia, Jasmins Luís, Gaspar Rui, Liberal Rodrigo, Macedo Guilherme, Mahadeva Ravi, Gomes Catarina, Schneider Kai Markus, Trauner Michael, Krag Aleksander, Gooptu Bibek, Thorburn Douglas, Marshall Aileen, Hurst John R, Lomas David A, Lammert Frank, Gaisa Nadine T, Clark Virginia, Griffiths William, Trautwein Christian, Turner Alice M, McElvaney Noel G, Strnad Pavel
Abstract excerpt
OBJECTIVE: Alpha-1 antitrypsin deficiency (AATD) is a common, potentially lethal inborn disorder caused by mutations in alpha-1 antitrypsin (AAT). Homozygosity for the 'Pi*Z' variant of AAT (Pi*ZZ genotype) causes lung and liver disease, whereas heterozygous 'Pi*Z' carriage (Pi*MZ genotype) predisposes to gallstones and liver fibrosis. The clinical significance of the more common 'Pi*S' variant remains largely...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.