Cystic fibrosis associated liver disease in children

Abstract

Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CF transmembrane conductance regulator gene. CF liver disease develops in 5%-10% of patients with CF and is the third leading cause of death among patients with CF after pulmonary disease or lung transplant complications. We review the pathogenesis, clinical presentations, complications, diagnostic evaluation, effect of medical therapies especially CF transmembrane conductance regulator modulators and liver transplantation in CF associated liver disease.

Keywords: Cirrhosis; Cystic fibrosis liver disease; Cystic fibrosis transmembrane conductance regulator modulators; Distal intestinal obstructive syndrome; Liver transplantation; Portal hypertension.