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About CF » Pathophysiology of CF » Liver and gall bladder

Liver and gall bladder

As the survival age for sufferers of CF continues to improve, the diagnosis and treatment of CF liver disease (CFLD) is becoming increasingly important. CFLD has been reported as the third most common cause of death in children with CF1 and is associated with mortality at an earlier age.2

Liver PathogenesisThe CFTR channel is found exclusively on the epithelial cells that line the hepatic bile ducts and gall bladder where it acts as the primary chloride transporter.3 Dysfunction of CFTR results in the production of viscous mucus that obstructs intrahepatic bile ducts, causing focal biliary cirrhosis, inflammation scarring and fibrosis.4

The gallbladder is also affected, with around 12% to 24% of CF sufferers presenting with gallstones5, marked by symptoms including pain, fevers, nausea and vomiting.

 Did you know?

Did you know that in addition to mutations in the CFTR gene, other genes may influence the onset and severity of CFLD? These genes are called modifier genes; that is, they modify the effect produced by another gene, which in this case is CFTR.

Researchers have found that small variations in a gene encoding the detoxification enzyme, glutathione S-transferase, have been linked to an eight-fold increase in the risk of liver disease in some patients with CF.6 

  1. Lamireau T et al. Can J Gastroenterol 2006;20:475–78
  2. Rowland M et al. Am J Gastroenterol 2011;106:104–9
  3. Knman N et al. Hepatology 2000;32:334–40
  4. Rowland M & Bourke B. Curr Opin Pulm Med 2011;17:461–6
  5. King L et al. Radiographics 2000;20: 767–77
  6. Henrion-Caude A et al. Hepatology 2002;36:913–7