Abstract
Cystic fibrosis (CF) is one of the most common autosomal recessive disorders associated with decreased longevity in the Caucasian population. The disease is classically described as a triad: chronic obstructive pulmonary disease, exocrine pancreatic insufficiency, and elevation of sodium and chloride concentration in sweat. The underlying pathophysiology involves abnormal ion transport due to dysfunction of the CF transmembrane conductance regulator. Altered salt and water movement across epithelia interferes with the hydration and ionic composition of mucus secretions. Abnormal mucus impairs clearance and defense systems leading to inflammation and destruction of the lungs, the pancreas and the developing vas deferens in males.
Original language | English (US) |
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Title of host publication | International Encyclopedia of Public Health |
Publisher | Elsevier Inc. |
Pages | 208-210 |
Number of pages | 3 |
ISBN (Electronic) | 9780128037089 |
ISBN (Print) | 9780128036785 |
DOIs | |
State | Published - Oct 6 2016 |
Keywords
- Autosomal recessive disorders
- CF transmembrane conductance regulator
- CFTR
- Cystic fibrosis
ASJC Scopus subject areas
- Medicine(all)