|Cystic fibrosis (Tutorial)|
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Mechanism of genetic defect
It is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator, (or CFTR) protein.
Those with a single working copyof CFTR, are carriers, and otherwise mostly normal.
Systems affected by genetic defect
Effects of genetic defect
When the CFTR is not functional, secretions which are usually thin, become thick.
The condition is diagnosed by a sweat test, and genetic testing. In parts of the world, where the defect in the gene is very common, screening of infants at birth with a sweat test may take place.
There is no known cure for cystic fibrosis, and the most common complications come from lung infections.
Treatment of pneumonia
Prevention of lung infections
Pancreatic enzyme replacement
CF is most common among people of Northern European ancestry, and affects about one out of every 3,000 newborns. In addition, about one in 25 people in Northern Europe is a CF gene carrier. The disease is least common in Africans, and Asians.
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