What is cystic fibrosis?

Cystic fibrosis (CF) is Ireland’s most common genetic (inherited) disease. It primarily affects the respiratory and digestive systems in children and young adults. The gene responsible for CF was first identified in 1989. CF causes the production of thick, sticky mucus that clogs the air passages of the lungs, leading to persistent infection and permanent lung damage due to scarring.

Some 94% of CF deaths are due to respiratory failure. With improved medical care, the outlook for patients with CF has been improving progressively. Currently, individuals with CF have an average lifespan of approximately 30 years. Projected survival for babies born with CF in the 1990s is 40 years. Women at all ages have slightly lower chances of survival than men, for reasons that are still unclear.

A child born to parents who are each carrying the faulty CF gene has a one in four chance of being born with CF; a one in two chance of being a carrier, but not having the disease; and a one in four chance of not having CF or being a carrier of the faulty gene.

Routine genetic screening can identify couples at risk of passing on the CF gene to their children. A simple sweat test is used to determine whether a child is suffering from CF.

Treatment of cystic fibrosis

At present, there is no specific treatment that can correct the underlying genetic defect causing CF.

Drugs or genes

Several drug-based approaches are being investigated.
Attempts at gene therapy remain experimental.

Control of symptoms

Current therapy aims to alleviate the symptoms of CF or slow the progression of the disease in order to improve the patient’s quality of life.
CF therapy is tailored to the needs of each patient.
Antibiotics and other treatments are used to clear the thick mucus that accumulates in the lungs of CF patients.

Lung transplantation

For patients whose disease is very advanced, lung transplantation may be an option. Some 0.6% of CF patients per year have an organ transplant (double lung, heart and lung or liver).

Useful links:

www.cfireland.ie
www.cfairegistry.org

Reproduced by kind permission of the European Lung Foundation