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Liver and intrahepatic bile ducts-nontumor

Metabolic diseases

Cystic fibrosis


Reviewers: Komal Arora, M.D. (see Reviewers page)
Revised: 23 April 2012, last major update April 2012
Copyright: (c) 2004-2012, PathologyOutlines.com, Inc.

See also Lung-nontumor chapter

General
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● Most common lethal genetic disease in US of whites - affects 1 per 2000-4500 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
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● Ursodeoxycholic acid (Curr Opin Pulm Med 2007;13:529)
● Liver transplantation (if end stage liver disease, Am J Transplant 2012;12:954)

Gross description
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● Lung: emphysema, bronchiectasis, abscess
● Liver: fibrosis

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

Micro description
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● 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
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● Filamentous material in bile ducts

Additional references
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Curr Opin Pulm Med 2011;17:461

End of Liver and intrahepatic bile ducts-nontumor > Metabolic diseases > Cystic fibrosis


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