Liver & intrahepatic bile ducts
Metabolic diseases
Cystic fibrosis
Author: Komal Arora, M.D.
Last author update: 1 April 2012
Last staff update: 29 January 2024
Copyright: 2002-2024, PathologyOutlines.com, Inc.
PubMed Search: Cystic fibrosis liver
See also: Lung - nontumor chapter
Table of Contents
Definition / general | Treatment | Gross description | Microscopic (histologic) description | Electron microscopy description | Additional referencesCite this page: Arora K. Cystic fibrosis. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/livercysticfibrosis.html. Accessed November 28th, 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)
Treatment
- Ursodeoxycholic acid (Curr Opin Pulm Med 2007;13:529)
- Liver transplantation (if end stage liver disease, Am J Transplant 2012;12:954)
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
