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.

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.

Ok

About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

AccessSurgery Full Site: One-Year Subscription

Connect to the full suite of AccessSurgery content and resources including more than 160 instructional videos, 16,000+ high-quality images, interactive board review, 20+ textbooks, and more.

$995 USD
Buy Now

Pay Per View: Timed Access to all of AccessSurgery

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

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