Skip to Main Content

+

  • • Serious congenital disorder, autosomal recessive disorder

    • Most common mutation is deletion of amino acid in position 508 (Phe)

    • Defect in chloride transport, results in more NaCl absorption in the airway

    • Defect occurs in apocrine sweat glands tracheobronchial tree, pancreas, GI tract

    • Airway secretions are low in volume and high in viscosity

    • Mucoid plugs form and are rubbery, semisolid, gray to greenish yellow in color resulting in impaction

    • Often history of recurrent upper respiratory tract infection, fever, and chest pain

++

Epidemiology

+

  • • 1 in 25 whites heterozygous carrier

    • 1 in 2000 homozygous

    • Single most common mutation characterized

++

Symptoms and Signs

+

  • • Recurrent respiratory infection

    • Fever

    • Chest pain

    • Meconium ileus in newborn, meconium in terminal ileum causes obstruction

++

Laboratory Findings

+

  • • Positive sweat test (NaCl in sweat)

++

Rule Out

+

  • • Bronchogenic carcinoma

    • Bronchiectasis

    • Abscess

    • Bacterial pneumonia

    • Lipoid pneumonia

    • Pulmonary eosinophilic granuloma

    • Löffler syndrome

+

  • • Chloride sweat test

    • Pilocarpin iontophoresis (NaCl concentrations exceeding 60 mEq/L)

++

Surgery

+

  • • Double lung transplant

++

Indications

+

  • • End stage pulmonary disease

++

Complications

+

  • • Bronchitis, bronchiectasis

    • Pulmonary fibrosis

    • Emphysema

    • Lung abscess

    Complication of transplant: Chronic bronchitis obliterans major obstacle and cause of eventual transplant failure

++

Prognosis

+

  • • 1-year survival, 85%

    • 5-year survival, 50%

++

References

Mak GZ et al: T-tube ileostomy for meconium ileus: four decades of experience. J Pediatr Surg 2000;35:349.  [PubMed: 10693694]
Glasscoe CA. Quittner AL. Psychological interventions for people with cystic fibrosis and their families. Cochrane Database of Systematic Reviews. 2008;(3):CD003148.
Moran F. et al. Non-invasive ventilation for cystic fibrosis. Cochrane Database of Systematic Reviews. 2007;(4):CD002769.

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.