Cystic Fibrosis is the commonest inherited disorder in the UK. One in every 2,500 babies is born with cystic fibrosis. One in twenty-five people carry the defective recessive gene. It affects more than 7,500 babies, children and young adults in the UK.

In cystic fibrosis a defective version of a protein called CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) is produced. This is responsible for the transport of salts and water across the cell membranes. This means that in certain parts of the body, the secretions lack water, becoming thick and sticky.

This means the lungs; pancreas (an internal organ which controls blood sugar and produces enzymes to break down food); intestines and other organs tend to get clogged up with thick, sticky mucus. Symptoms include poor weight gain, chest infections, coughs, abnormal stools and salty sweat.

There have been improvements in the management of cystic fibrosis in recent years and with recent advances in treatment, most affected children now survive into adulthood.  There is no cure for cystic fibrosis, but the faulty gene has been identified and further important medical advances are expected.

Causes

Cystic Fibrosis is caused by an abnormal gene, carried by approximately 1 in 25 people in the UK. The abnormal gene occurs on chromosome number 7. When a baby is born with cystic fibrosis, both parents must be carriers of the faulty gene. If both parents carry the gene there is a one in four chance their baby will have the disease, a two in four chance their child will be a carrier and a one in four chance of their child neither having cystic fibrosis or being a carrier.

Treatment

• Physiotherapy helps clear the thick, sticky mucus from the lungs. Parents are taught how to do this for their child by the physiotherapist. Older children and adults with Cystic fibrosis can learn to manage their own physiotherapy.
• Medication : Bronchodilator drugs open the airways by relaxing the neighbouring muscles. Antibiotics help to treat or control persistent infection. Steroids reduce inflammation in the airways. DNase is a drug used to less sticky and thinner and so is easier to cough up. Acetylcysteine is a drug is used to reduce the stickiness and viscosity of mucus.
• Exercise is important for people with Cystic fibrosis as it helps prevent deterioration of the lungs and develops physical bulk and muscle strength.
• Posture and chest mobility is important.
• A suitable, energy rich, nutritious diet is essential. Malabsorption of food is treated with pancreatic enzyme supplements.
• A heart and lung transplant may be performed when the lungs become too damaged for other treatments to be effective.
• ‘Gene therapy’ is currently being researched. Gene therapy involves the addition of a healthy, working copy of the faulty gene into the appropriate cells of the body.  As lung damage is the major cause of illness and death in cystic fibrosis, initially, gene therapy is focusing on delivering genes to the lungs. Gene therapy for Cystic fibrosis has involved the normal gene being inserted into a virus (e.g. common cold virus), or to use liposomes (fatty substances that naturally adhere to the surface of cells) containing the normal gene. Trials of gene therapy have had limited success so far, with the effects often proving short-lived. However research is ongoing.