Liver & intrahepatic bile ducts

Metabolic diseases

Cystic fibrosis

Last author update: 1 April 2012
Last staff update: 29 January 2024

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PubMed Search: Cystic fibrosis liver

See also: Lung - nontumor chapter

Komal Arora, M.D.
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Cite this page: Arora K. Cystic fibrosis. website. Accessed April 14th, 2024.
Definition / general
  • Most common lethal genetic disease in US of whites; affects 1 per 2,000 - 4,500 newborns
  • 1 in 20 in the U.S. are carriers; most common mutation is ΔF508 of protein that regulates chloride ion transport on chromosome #7 (seen in 70% with disease)
  • Mutations cause reduced chloride ion in secretions, thicker respiratory secretions, upper respiratory infections, late pancreatic insufficiency; also cause defective cilia and infertility, meconium ileus (5 - 10%), intussusception
  • Liver disease in 11% (Pediatr Rep 2011;3:e21)
    • May present as neonatal cholestasis
  • Children with CF liver disease have a more severe CF phenotype than do CF patients without liver disease but a subgroup will not manifest clinically significant liver disease as adults (Am J Gastroenterol 2011;106:104)
Gross description
  • Lung: emphysema, bronchiectasis, abscess
  • Liver: fibrosis
Microscopic (histologic) description
  • Macrovesicular steatosis, focal biliary cirrhosis (focal findings of inspissated granular eosinophilic, PAS positive material within portal bile ductules, chronic inflammatory infiltrate in portal tract, bile duct proliferation), cirrhosis (10% by age 25)
Electron microscopy description
  • Filamentous material in bile ducts
Additional references
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