Liver and intrahepatic bile ducts - nontumor
Metabolic diseases
Cystic fibrosis

Author: Komal Arora, M.D. (see Authors page)

Revised: 26 October 2017, last major update April 2012

Copyright: (c) 2002-2017, PathologyOutlines.com, Inc.

PubMed Search: Cystic fibrosis[TI] liver[TI] free full text[sb]

See also: Lung - nontumor chapter
Cite this page: Arora, K. Cystic fibrosis. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/livercysticfibrosis.html. Accessed December 13th, 2017.
Definition / general
  • Most common lethal genetic disease in US of whites; affects 1 per 2,000 - 4,500 newborns
  • 1 in 20 in US 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
Gross description
  • Lung: emphysema, bronchiectasis, abscess
  • Liver: fibrosis
Gross images

Images hosted on other servers:

12 year old boy with liver failure, undergoing a liver transplant

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