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

Core Tip: Cystic fibrosis(CF) liver disease is caused by abnormal cholangiocyte function, altered biliary secretion and abnormal innate immune response with abnormal response to endotoxins. CF liver disease can present with a wide variety of clinical features from a heterogenous liver on ultrasound, to life threatening gastrointestinal bleeds secondary to portal hypertension. Novel treatment strategies directly targeting the ion channel abnormality-cystic fibrosis transmembrane conductance regulator modulators are available and has significantly improved the clinical status and life expectancy of the cystic fibrosis patients.