Sabrina Sidali, Raphaël Borie, Flore Sicre de Fontbrune, Kinan El Husseini, Pierre-Emmanuel Rautou, Elodie Lainey, Odile Goria, Bruno Crestani, Jacques Cadrane, Vincent Cottin, Vincent Bune, Jérôme Dumortier, Emmanuel Jacquemin, Noémi Reboux, Sandrine Hirschi, Arnaud Bourdin, Magdalena Meszaros, Sebastien Dharancy, Sophie Hilaire, Vincent Mallet, Martine Reynaud-Gaubert, Louis Terriou, Frédéric Gottrand, Wadih Abou Chahla, Jean-Emmanuel Khan, Paul Carrier, Faouzi Saliba, Laura Rubbia-Brandt, John-David Aubert, Laure Elkrief, Victor de Lédinghen, Armand Abergel, Tournilhac Olivier, Pauline Houssel, Stephane Jouneau, Lidwine Wemeau, Anne Bergeron, Thierry Leblanc, Isabelle Ollivier-Hourmand, Eric Nguyen Khac, Hélène Morisse-Pradier, Ibrahima Ba, Catherine Boileau, Françoise Roudot-Thoraval, Valérie Vilgrain, Christophe Bureau, Hilario Nunes, Jean-Marc Naccache, François Durand, Claire Francoz, Dominique Roulot, Dominique Valla, Valérie Paradis, Caroline Kannengiesser, Aurélie Plessier
BACKGROUND AND AIM: Germline mutations of telomere-related genes (TRG) induce multiorgan dysfunction, and liver-specific manifestations have not been clearly outlined. We aimed to describe TRG mutations-associated liver diseases. APPROACH AND RESULTS: Retrospective multicentre analysis of liver disease (transaminases>30 IU/L and/or abnormal liver imaging) in patients with TRG mutations. Main measurements were characteristics, outcomes, and risk factors of liver disease in a TRG mutations cohort...
November 6, 2023: Hepatology: Official Journal of the American Association for the Study of Liver Diseases