Cystic Fibrosis - Institute for Respiratory Health

Cystic Fibrosis

What is cystic fibrosis?

Cystic fibrosis (CF) is the most common life-limiting genetic disorder affecting Australians today, for which there is no cure. A baby in Australia is born with CF every four days and one in 25 Australians carry the gene.

It is an inherited disease that causes thickened mucus to form in the lungs, pancreas and other organs. In the lungs, this mucus blocks the airways, causing lung damage, which makes it hard to breathe.

People with CF need to undergo constant treatment in order to remove the excess mucus from their lungs. The stress placed on the lungs results in irreversible damage and regular infections.

Cystic fibrosis symptoms

CF is usually detected in newborn babies through a neonatal screening test, known as the heel prick test.

This free test involves pricking the heel of the baby to gain a tiny blood sample and detects up to 95 per cent of babies with CF.

If a baby has a positive heel prick test, it should then have a sweat test at about six weeks old to see if it either has the disorder, or is a healthy carrier of the faulty gene.

Adults who have CF in their family can talk to a gene expert and have blood tests to see if they carry the gene for cystic fibrosis.

Most people with CF have:

  • Chest problems such as cough, wheeze and recurrent chest infections
  • Digestive problems and bulky, fatty stools
  • Very salty sweat

They may also have lung damage, malnutrition, poor growth and diabetes. Almost all men and most women with CF are infertile.

Cystic fibrosis causes

CF is caused when the gene that controls the movement of salt and water in and out of the cells is faulty.

For a child to have CF, both their parents must carry the faulty gene. Genes come in pairs: one set is inherited from the mother and the other from the father. A child will only have CF if they inherit two faulty genes – one from their mother and one from their father.

Cystic fibrosis treatments

Whilst CF cannot be cured, over the past two decades, research has resulted in a range of treatments to help manage the symptoms of CF. There are medications to help thin and clear the thick mucus from the airways, enzymes to help absorb fat and nutrients and antibiotics to treat the infections.

Physiotherapy also makes a major difference. In extreme cases a double lung transplant becomes the only option.

Cystic fibrosis research

CF research helps us understand how the disease is caused, how it develops and how it can be best treated.

Our Clinical Trials Unit undertakes CF studies to explore new ways to prevent the disease and improve the quality of everyday life for those diagnosed with CF.

The CF Research Group are conducting a number of projects on CF including a program funded by Conquer CF.

Other information can be found at Cystic Fibrosis Federation AustraliaWoolcock Institute of Respiratory and Sleep Research and Healthdirect Australia.

Sarah’s Story

Sarah Kerr once struggled to walk from her bed to the couch because cystic fibrosis had damaged her lungs so badly. She had constant infections requiring long hospital stays. Four years ago, she had a life-changing double lung transplant that transformed her life.

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