Cystic Fibrosis (CF) is the commonest inherited disorder affecting Caucasians in the UK (one in 2500 live births). One in twenty-five people carry the defective gene. People who have CF produce a defective version of a protein called CFTR (Cystic Fibrosis Transmembrane Conductance Regulator). This is responsible for transport of salts and water across cell membranes, and causes the secretions in certain parts of the body to become stickier than normal.
The main clinical manifestations are:
Treatment includes physiotherapy to prevent infections, taking antibiotics when infections occur, and taking pancreatic enzymes together with nutritional supplements to reduce the effects of malabsorption. A lung or heart lung transplant is sometimes carried out in suitable patients when there has been a significant deterioration.
- Chest infections
- Malabsorption (due to pancreatic problems)
- Liver disease
The prospects for those suffering from cystic fibrosis used to be gloomy, but with modern management, most of those affected can expect to live beyond the age of 40.
In the future cystic fibrosis may be one of those conditions that will be treated by gene therapy, which would involve replacing the defective gene.
This article published on
01 July 2005
Next review date 01/07/2013
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