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Cystic fibrosis

Friday 27 June 2003

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)

  • pulmonary cystic fibrosis
    • pulmonary infections
    • pulmonary interstitial 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 (#10533146#, #15772171#)
  • fatty pancreatic replacement
  • pancreatic calcifications
  • pancreatic cysts
  • pancreatic duct anomalies
  • pancreatic carcinoma

- hepatobiliary lesions

  • focal biliary cirrhosis
  • focal biliary fibrosis
  • intrahepatic bile duct obstruction
  • steatosis
  • bile duct anomalies
  • common bile duct stenosis
  • secondary sclerosing cholangitis
  • gallbladder disease (gallbladder lithiasis)

- digestive cystic fibrosis

  • gastroesophageal reflux
  • gastric peptic ulceration
  • duodenal peptic ulceration
  • distal intestinal obstruction syndrome
  • intestinal intussusception
  • appendicitis
  • fibrosing colonopathy
  • intestinal pneumatosis (digestive pneumatosis)
  • rectal mucosal prolapse
  • digestive tumors
  • pseudomembranous colitis
  • fetal viscoid meconium
  • meconium ileus
  • meconium ileus equivalent
  • distal intestinal obstruction syndrome (DIOS)
  • intestinal cystic fibrosis
  • appendiceal cystic fibrosis
  • colonic cystic fibrosis
  • digestive Crohn-like disease (#8149854#, #8284725#)
  • fibrosing colonopathy
  • colonic strictures
  • gastroesophageal reflux
  • rectal prolapse
  • chronic constipation
  • digestive perforations
    • intesinal perforations
    • colonic perforation

- cardiac lesions

  • multifocal myocardial necrosis (#12056507#)
  • myocardial fibrosis (#8404977#)

- Vasculitis(#2608880#)

  • recurrent cutaneous vasculitis (#3658832#)
    • leukocytoclastic vasculitis
    • cutaneous necrotizing venulitis (#7411323#)
  • systemic vasculitis
    • necrotizing vasculitis
    • Kawasaki disease (+/- meconium ileus equivalent) (#1295610#, #1676312#)

- cystic fibrosis-associated cutaneous lesions (#18429769#)

  • cystic fibrosis-associated dermatitis
  • cystic fibrosis-associated nutrient deficiency dermatitis (CFNDD)
  • cutaneous vasculitis - leukocytoclastic vasculitis (#3658832#)
  • acrodermatitis enteropathica-like eruption (#12657028#, #12200605#, #6849566#, #12985321#)
  • necrolytic migratory erythema (#18191693#)

- arthropathy (#1597840#)

  • episodic arthritis (#3779327#)

- renal anomalies

  • nephrolithiasis
  • glomerulonephritis (#12297060#)
    • nodular glomerulosclerosis (#15056988#, #15056987#)
    • IgA nephropathy (#17598378#, #10203000#)
  • 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

  • arthritis (#8071744#, #3779327#, #6721567#)
  • hypertrophic pulmonary osteoarthropathy
  • treatment-related arthritis

- systemic anomalies

  • leukocytoclastic vasculitis
  • systemic granulomatous disease (#15463844#)

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

  • immunofluorescent staining showed deposits of IgM, IgG, and components of complement C1q, C3, and C4 (#8071744#)
  • synovium (arthritis) (#8071744#, #3779327#, #6721567#)
  • rheumatoid factor (#7680296#)
  • vasculitis (#2608880#)

- granulomatous diseases (#15463844#)

  • Crohn disease (#3488886#, #17341449#, #16808638#, #8149854#, #8284725#, #2072229#, #2621532#)
  • sarcoidosis (#2595627#)

Cystic fibrosis-associated infections

- Pseudomonas aeruginosa
- Burkholderia cepacia
- Staphylococcus aureus

  • Methicillin-resistant 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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