Article
Longitudinal Evaluation of Individuals With Severe Alpha-1 Antitrypsin Deficiency (Pi∗ZZ Genotype).
Gastroenterology - 1 Feb 2025
Fromme Malin, Payancé Audrey, Mandorfer Mattias, Thorhauge Katrine H, Pons Monica, Miravitlles Marc, Stolk Jan, van Hoek Bart, Stirnimann Guido, Frankova Sona, Sperl Jan, Kremer Andreas E, Burbaum Barbara, Schrader Christina, Kadioglu Amine, Walkenhaus Michelle, Schneider Carolin V, Klebingat Fabienne, Balcar Lorenz, Kappe Naomi N, Schaefer Benedikt, Chorostowska-Wynimko Joanna, Aigner Elmar, Gensluckner Sophie, Striedl Philipp, Roger Pauline, Ryan John, Roche Suzanne, Vögelin Marius, Ala Aftab, Bantel Heike, Verbeek Jef, Mariño Zoe, Praktiknjo Michael, Gevers Tom J G, Reuken Philipp A, Berg Thomas, George Jacob, Demir Münevver, Bruns Tony, Trautwein Christian, Zoller Heinz, Trauner Michael, Genesca Joan, Griffiths William J, Clark Virginia, Krag Aleksander, Turner Alice M, McElvaney Noel G, Strnad Pavel
Abstract excerpt
BACKGROUND & AIMS: Homozygous Pi∗Z mutation in alpha-1 antitrypsin (Pi∗ZZ genotype) predisposes to pulmonary loss-of-function and hepatic gain-of-function injury. To facilitate selection into clinical trials typically targeting only 1 organ, we systematically evaluated an international, multicenter, longitudinal, Pi∗ZZ cohort to uncover natural disease course and surrogates for future liver- and lung-related...
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