Cystic fibrosis

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[edit] Discussion of Cystic fibrosis

  • Inheritance is autosomal recessive
  • Gene mutations have been identified at a single locus on the long arm of chromosome 7.
  • The CF gene and its product, the CF transmembrane conductance regulator (CFTR), cause abnormal chloride ion transport on the apical surface of exocrine gland epithelial cells. This results in abnormally thickened, viscous secretions, which affect multiple organ systems.
  • Median life expectancy is now over 30 years
  • Mucous plugging, bronchiectasis, and recurrent infection are the well-known pulmonary manifestations
  • Respiratory failure the most common cause of mortality.
  • As more CF patients are surviving into adulthood, extrapulmonary disease has become more commonplace.
  • Abdominal complaints are common and nearly all organ systems are affected, including the hepatobiliary system, pancreas, and gastrointestinal tract and less commonly the kidneys.


Pancreas

  • Exocrine gland insufficiency affects 85%–90% of all CF patients and is a result of inspissated secretions leading to proximal duct obstruction with subsequent acinar disruption and replacement by fibrous tissue and fat.
  • Endocrine gland dysfunction is reported in 30%–50% and is thought to result from fibrosis and gland atrophy.


[edit] Imaging Findings for Cystic fibrosis

[edit] Chest

  • Bronchiectasis
  • Mucous plugging

[edit] Abdomen

  • Pancreas: complete fatty replacement of the pancreas

[edit] Images

Patient #1: CT in demoonstrates mucous plugging and complete pancreatic atrophy

[edit] See Also

[edit] External Links

[edit] References for Cystic fibrosis