Cystic fibrosis is a genetic disease where there is a mutation on a gene on chromosome 7. The gene affected is called the Cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR helps to control the way the cells of the body handle salt. In patients with cystic fibrosis, the cells don’t handle salt properly. This results in the mucus and secretions being thicker than normal. The main organ affected is the lungs, but the liver, pancreas, sinuses and reproductive organs can also be affected.

How common is cystic fibrosis

About 1 in 2500 people have cystic fibrosis. It is the most common inherited disease in Caucasians. Some patients with cystic fibrosis are diagnosed with other respiratory diseases like asthma before they are diagnosed with cystic fibrosis.  Many more are diagnosed late.

What are the symptoms of cystic fibrosis

Lung

The lung is the most commonly affected organ. Children present with a persistent wet cough, productive of sputum and recurrent chest infections.  They can also present with difficulty in breathing and may often be diagnosed and treated for “asthma”.

Abdominal symptoms

  • Meconium ileus – this is when there is delayed passage of meconium at birth. If severe it can result in intestinal obstruction
  • Fatty, floating stools
  • Poor weight gain, despite increased appetite

 Other symptoms

  • Sinusitis
  • Nasal polyps
  • Diabetes
  • Liver disease

How is cystic fibrosis diagnosed

If your doctor suspects cystic fibrosis, your child will have a sweat test. Sweat is collected on a filter paper or gauze. The salt level is measured. If it is high, your doctor will request a blood sample to test for the abnormal gene. Most children who have a sweat test do not have cystic fibrosis. It is a simple and easy test, and important in excluding cystic fibrosis. If there is any further doubt about the diagnosis of cystic fibrosis, a blood test can be done to look for the genetic mutation.

What is the treatment

Patients with cystic fibrosis should be treated with the help of a multi-disciplinary team, including pulmonologists, physiotherapists, dieticians, social workers and psychologists.

Physiotherapy

Regular chest physiotherapy is the cornerstone of cystic fibrosis management. This clears the lungs of thick mucus and thus prevents infections and permanent damage to the lungs. A physiotherapist usually trains parents on how to perform physiotherapy. This should be done twice a day at home, or more frequently when sick.

Antibiotics

Regular courses of antibiotics may be necessary to treat lung infections. Sometimes hospital admission is required, if the infection does not respond well.

Other treatments

  • Dornase is a medicine given by a nebulizer. It helps to break down the thick mucus so that it can be cleared from the lungs easier
  • Enzyme supplements (for example, Creon) are often needed with meals to help digest food
  • Nutritional advice is important because children with cystic fibrosis need more energy than other children
  • Other medications may be needed to treat reflux, liver disease and diabetes

What is the prognosis

Cystic fibrosis is a life long condition. With early diagnosis and effective treatment, patients are living longer and healthier lives than before.

More information

Visit the South African Cystic Fibrosis Association online.