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Cystic fibrosis

Cystic fibrosis: mucus plug in appendix Intestinal cystic fibrosis Intestinal cystic fibrosis Bronchiectasis in cystic fibrosis Bronchectasias in cystic fibrosis Bronchiectasis in cystic fibrosis Bronchiectasis in cystic fibrosis Bronchiectasis in cystic fibrosis Meconial peritonitis after fetal intestinal perforation in cystic (...) Meconial peritonitis after fetal intestinal perforation in cystic (...) Meconial peritonitis after fetal intestinal perforation in cystic (...) Bronchiectasis in cystic fibrosis and peribronchial inflammation in cystic (...) Mucous plug and bronchiectasis in cystic fibrosis and peribronchial (...) Bronchiectasis in cystic fibrosis and peribronchial inflammation in cystic (...) Bronchiectasis in cystic fibrosis and peribronchial inflammation in cystic (...) Mucous plug and bronchiectasis in cystic fibrosis and peribronchial (...) Bronchiectasis in cystic fibrosis

Definition: Cystic fibrosis is an autosomal recessive disease reported in 1 in 2500 live births in Northern American and Northern European Caucasian populations. Classic disease findings include chronic bacterial infection of airways and sinuses, malabsorption of fat, infertility in men, and elevated concentrations of chloride in sweat.

Cystic fibrosis (CF), the most common lethal autosomal recessive disease in white populations, is characterized by dysfunctional chloride ion transport across epithelial surfaces due to CFTR gene mutations.

Although recurrent pulmonary infections and pulmonary insufficiency are the principal causes of morbidity and death, gastrointestinal symptoms commonly precede the pulmonary findings and may suggest diagnosis in infants and young children.

Cystic fibrosis is the most common genetic disorder and around 5% of the population of the United States carry the defective gene.

Topography

- respiratory cystic fibrosis (CF lung disease)

- nasal polyps (20%)
- chronic sinusitis

- pancreatic cystic fibrosis

  • exocrine pancreatic insufficiency
  • interstitial fibrosis
  • pancreatic aninar atrophy
  • pancreatic duct obstruction
  • acute pancreatitis (10533146, 15772171)
  • fatty pancreatic replacement
  • pancreatic calcifications
  • pancreatic cysts
  • pancreatic duct anomalies
  • pancreatic carcinoma

- hepatobiliary lesions

- digestive cystic fibrosis

- cardiac lesions

- Vasculitis(2608880)

- cystic fibrosis-associated cutaneous lesions (18429769)

- arthropathy (1597840)

- renal anomalies

- reproductive system

  • male infertility (sterility)
    • bilateral congenital vas deferens agenesis
    • vas deferens atrophy
    • seminal vesicle dilatation
    • seminal vesicle absence
    • obstructive azzospermia
  • female impaired infertility
    • dehydrated cervical mucus

- bones and joints

- systemic anomalies

- recurrent venous thrombosis (8649922)
- circulating immune complexes (8071744, 7680296, 2534928, 2531989, 3143315, 3112403, 3104391, 3714348, 3083745, 3850731, 3875438)

- granulomatous diseases (15463844)

Cystic fibrosis-associated infections

- Pseudomonas aeruginosa
- Burkholderia cepacia
- Staphylococcus aureus

- Mycobacterium abscessus
- Mycobacterium avium
- Achromobacter xylosoxidans
- Stenotrophomonas maltophilia
- Burkholderia gladioli or Burkholderia cepacia (10786801)
- Ralstonia sp.
- Pandoraea sp.

Associations

- pancreatic mucinous cystadenocarcinoma (16010483)

Videos

- Pancreatic cystic fibrosis by Washington Deceit (1)

- Pancreatic cystic fibrosis by Washington Deceit (2)

- Meconium obstruction with necrosis

References

- Guggino WB, Stanton BA. New insights into cystic fibrosis: molecular switches that regulate CFTR. Nat Rev Mol Cell Biol. 2006 Jun;7(6):426-36. PMID: 16723978

- Zebrak J, Skuza B, Pogorzelski A, Ligarska R, Kopytko E, Pawlik J, Rutkiewicz E, Witt M. Partial CFTR genotyping and characterisation of cystic fibrosis patients with myocardial fibrosis and necrosis. Clin Genet. 2000 Jan;57(1):56-60. PMID: 107332365

- Wiebicke W, Artlich A, Gerling I. Myocardial fibrosis—a rare complication in patients with cystic fibrosis. Eur J Pediatr. 1993 Aug;152(8):694-6. PMID: 8404977

- Poschet J, Perkett E, Deretic V. Hyperacidification in cystic fibrosis: links with lung disease and new prospects for treatment. Trends Mol Med. 2002 Nov;8(11):512-9. PMID: 12421684

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