Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies.

Adele D'AmicoAntonella LongoFabiana FattoriMichele TosiLuca BoscoMaria Beatrice Chiarini TestaGiovanna PagliettiClaudio CherchiAdelina CarlesiIrene MizzoniEnrico Bertini

Published in: Orphanet journal of rare diseases (2021)

We demonstrate that hepatobiliary disease represents a common comorbidity of XLMTM that seems irrespective to age and diseases severity. We recommend to carefully explore and monitor the hepatobiliary function in XLMTM patients. We believe that a better understanding of the pathogenic mechanisms that induce hepatobiliary damage is essential to understand the fatal events that may occur in the gene therapy program.

Keyphrases

gene therapy
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
oxidative stress
risk assessment
patient reported outcomes
human health
climate change