Also called

  • CF


  • There is no cure for cystic fibrosis (CF), but treatment can slow progression of the disease.
  • One in 25 people carry the gene but do not have CF and will have no symptoms.
  • Cystic fibrosis is usually diagnosed at birth.
  • Cystic fibrosis is not contagious.
  • Cystic fibrosis occurs equally in males and females.
  • Testing can now identify if you are a CF gene carrier.
Cystic fibrosis (CF) is the most common life-threatening genetic disorder among Caucasians. It primarily affects the respiratory system (lungs), the digestive system (pancreas and sometimes liver) and the reproductive system.

When a person has CF, their mucus glands secrete very thick sticky mucus. In the lungs, the mucus clogs the tiny air passages and traps bacteria. Repeated infections and blockages can cause irreversible lung damage and a shortened life.

The pancreas is also affected, preventing the release of enzymes needed to digest food. This means that people with CF can have problems with nutrition and must consume a diet high in kilojoules, fats, sugar and salts.

People with CF have difficulty clearing mucous from their lungs and have recurrent respiratory infections, which can result in lung damage over time. The thick mucous also stops digestive enzymes in the pancreas from reaching the small intestine, which leads to difficulty with digesting fats and absorbing some nutrients. Some people with CF also experience liver disease.

Symptoms of cystic fibrosis

People with CF may experience:
  • a persistent cough, with great physical effort
  • some difficulty breathing
  • tiredness, lethargy or an impaired exercise ability
  • frequent visits to the toilet
  • salt loss in hot weather, which may produce muscle cramps or weakness
  • poor appetite.

Frequency of cystic fibrosis

Cystic fibrosis is the most common genetically-inherited life-shortening chronic illness affecting young Australians today. A baby is born with cystic fibrosis every four days.

In Australia, one in 25 people are carriers of the CF gene. Carriers of the CF gene do not have any symptoms of the condition. If two people carry the gene and have a child, each pregnancy will have:
  • a one-in-four chance that the child will have CF
  • a two-in-four chance that the child will not have CF, but will carry the gene
  • a one-in-four chance that the child will not have CF and will not be a carrier.
One in every 2,500 births produces a child with CF. Approximately 3,000 people in Australia have CF.

Diagnosis of cystic fibrosis

In Australia, all babies are screened at birth for CF through the newborn screening test. This involves collection of a blood sample through a heel prick test immediately after birth. If the results of the screening test reveal very high levels of a substance called immunoreactive trypsin (IRT), CF is suspected and the DNA in the blood is then analysed for the most common mutations causing CF.

A sweat test may be done to measure the amount of salt (sodium chloride) in the sweat and confirm the diagnosis.

Some babies may also be diagnosed shortly after birth as a result of an intestinal blockage called meconium ileus. Most babies who have CF are now diagnosed within the first two months of life.

Treatment for cystic fibrosis

Treatment for CF can be intensive and time consuming. At present, there is no cure for CF. Treatment aims to slow progression of the condition and includes:
  • chest physiotherapy
  • antibiotics
  • inhalations via a compressed air pump and nebuliser
  • enzyme replacement capsules with meals and snacks
  • a well balanced diet high in protein, fat and kilojoules
  • supplementary vitamins
  • salt supplements
  • regular exercise.
Regular attendance at a major CF clinic is beneficial and recommended.

Gene testing for cystic fibrosis

Carriers of a CF gene are healthy and often not aware that they are carriers. If you are planning a pregnancy, you can now have testing to clarify your status for cystic fibrosis.

Cystic Fibrosis Community Care have produced a range of resources about Cystic Fibrosis that can be downloaded. The Victorian Clinical Genetics Services has produced cystic fibrosis carrier testing packs.

Where to get help


More information

Genes and genetics

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A-Z of genetic conditions

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This page has been produced in consultation with and approved by: Cystic Fibrosis Community Care

Last updated: January 2015

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