Cystic fibrosis

A genetic test for CF is available

Cystic fibrosis (CF) is a life-threatening inherited genetic disease which disrupts, among other things, the way the digestive and respiratory systems work.

One in 25 people carry the faulty gene which causes the condition.

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Why is cystic fibrosis a problem?

CF triggers the malfunctioning of specialised glands which are responsible for the production of important digestive enzymes and the mucus lubricating the respiratory tract.

CF causes these glands to produce abnormally thick and sticky secretions by disrupting the way water passes across cell membranes.

Eventually the ducts of these glands become blocked, and cysts begin to form.

What are the symptoms?

CF prevents the pancreas from playing its vital role in helping to break down food.

This can cause malnutrition, which can lead to poor growth, physical weakness and delayed puberty.

In older patients damage to the pancreas can compromise its ability to produce insulin, increasing the risk of diabetes.

Damage to lung function can increase the risk of repeated chest infections and persistent coughs.

Some babies with CF develop a bowel obstruction called meconium ileus. This often requires urgent surgery.

About one in 12 CF patients will experience blockages in the small ducts of the liver which may require a liver transplant.

Other symptoms can include salty sweat, abnormal stools, fertility problems and an increased risk of the brittle bone disease.

Who is at risk?

CF affects mainly children and young people.

A baby can only develop CF if it inherits two copies of the faulty gene, one from each parent.

However, even if both parents carry the faulty gene, this does not mean that their child will necessarily develop CF.

In fact, the risk is only one in four, although there is a one in two chance that the child will be a carrier.

What is the prognosis?

At present there is no cure for CF. The severity of symptoms varies greatly, but over time lung function does deteriorate, leading to disabilty and death.

However, life expectancy has improved signficantly in recent years. People with CF can now expect to live to an average of 31 years.

And it is hoped that advances in gene technology will lead to effective treatments, and possibly a way to prevent the condition.

What treatments are available?

Bronchodilator drugs can help to keep the airways open, and drugs based on an enzyme called DNase can be used to break down mucus.

A variety of drugs are also available to treat lung infections associated with CF.

Enzyme pills can help to replace pancreatic enzymes, and increase the amount of energy people with CF gain from the food they eat.

A low fat-high calorie diet can also help to ameliorate symptoms.

Physiotherapy is an important a way of clearing the thick, sticky mucus from the lungs.

It is also essential that people with CF take regular exercise to minimise the deterioration of the lungs and improve physical bulk and strength.

Some patients undergo lung transplantation.