Cystic Fibrosis

WHAT IS CYSTIC FIBROSIS (CF)?

Cystic Fibrosis (CF) is a genetic disorder that affects the respiratory, digestive and reproductive systems.

Cystic Fibrosis was first described as a disease in the late 1930s. It is the most common genetic disease among people with European ancestry. Approximately one in every 25 people of European descent is a carrier of one of the Cystic Fibrosis mutations, having one normal gene and one Cystic Fibrosis gene.

WHAT ARE THE SYMPTOMS?

People with Cystic Fibrosis have a variety of symptoms including:

• Very salty-tasting skin
• Persistent coughing, at times with phlegm
• Wheezing or shortness of breath
• An excessive appetite but poor weight gain
• Greasy, bulky stools.

Symptoms vary from person to person due, in part, to the more than 1,000 mutations of the Cystic Fibrosis gene.

DIAGNOSIS OF CF

About one in five babies with CF are diagnosed at birth, when their gut becomes blocked by extra thick meconium (the black tar-like bowel contents that all babies pass soon after birth). This condition may need surgery.

Just over half of people with CF are diagnosed as babies because they are not growing or putting on weight as they should. This is because the pancreas is not producing chemicals (enzymes), which pass into the gut as food leaves the stomach. Without these enzymes, the fat in food cannot be properly digested. In children who are affected, the fat passes straight through the gut. The child does not benefit from the energy from the fat. Since the stools contain an excess of fat, they are oily and very smelly.

OTHER SYMPTOMS

CF is a "multi-system" disease, meaning that it affects many body organs. However, most of the symptoms are to do with the lungs and the gut.

In a healthy person, there is a constant flow of mucus over the surfaces of the air passages in the lungs. This removes debris and bacteria. In someone with CF, this mucus is excessively sticky and cannot perform this role properly. In fact, the sticky mucus provides an ideal environment for bacterial growth.

People with CF are at risk of bacterial chest infections. About half of people with CF have repeated chest infections and pneumonia. If they are not treated early and properly, these are very difficult to treat. Symptoms include persistent coughing, excess production of sputum (saliva and mucus), wheezing, and shortness of breath with ordinary activities.

If people with CF do not have proper treatment, they will continue to have oily bowel movements, abdominal pain, and problems putting on weight. Constipation is also a frequent symptom. Occasionally the gut becomes completely blocked, resulting in extreme stomach pain.

THE LONG-TERM OUTLOOK

Although there is currently no cure for CF, there is a lot of research under way to try to find a cure for CF lung disease through gene therapy.

Children born with CF do not have a normal life expectancy, though it is improving all the time. The average survival is now more than 30 years, but with the best treatment, children today with CF have a greater than 80% chance of living into their late forties.

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.

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