Human pathology

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Cystic fibrosis

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mucoviscidosis

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

  • bronchial cystic fibrosis
    • bronchial mucous plugging
    • bronchial infections
    • acute bronchitis
    • chronic bronchitis
    • bronchiolitis
    • bronchiectasis
    • bronchial squamous metaplasia
    • allergic bronchopulmonary aspergillosis
    • subpleural bronchiectatic cavities
      • pneumothorax

- nasal polyps (20%)
- chronic sinusitis

- pancreatic cystic fibrosis

  • exocrine pancreatic insufficiency
  • interstitial fibrosis
  • pancreatic aninar atrophy
  • pancreatic duct obstruction
  • acute pancreatitis
  • fatty pancreatic replacement
  • pancreatic calcifications
  • pancreatic cysts
  • pancreatic duct anomalies
  • pancreatic carcinoma

- hepatobiliary lesions

- digestive cystic fibrosis

- cardiac lesions

- Vasculitis(2608880)

- dermatological lesions

- arthropathy (1597840)

- renal anomalies

  • nephrolithiasis
  • secondary renal complications
    • interstitial nephritis due to antibiotic therapy
    • renal amyloidosis

- 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)

Cystic fibrosis-associated infections

- Pseudomonas aeruginosa
- Burkholderia cepacia
- Staphylococcus aureus

- Mycobacterium abscessus
- Mycobacterium avium
- Achromobacter xylosoxidans
- Stenotrophomonas maltophilia
- Burkholderia gladioli
- Ralstonia sp.
- Pandoraea sp.

Associations

- Crohn disease
- 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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