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Cystic fibrosis (CF)

3-minute read

What is cystic fibrosis?

Cystic fibrosis (CF) is a genetic disease that mostly affects the lungs and digestive system. It results from a fault in a particular gene.

People with CF develop a lot of very thick and sticky mucus in their lungs, airways and the digestive system. They have problems digesting food and experience repeated lung infections, which can permanently damage their lungs.

Most people with cystic fibrosis have:

  • chest problems such as cough, wheeze and repeated chest infections
  • digestive problems and bulky, fatty stools (poo)
  • very salty sweat

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

One in every 2,500 babies born in Australia has CF. The lives of people with CF are usually shortened by the disorder, and the average life expectancy of an Australian with CF is 38. However, people with CF can lead happy and productive lives with the right treatment.

What are the symptoms of cystic fibrosis?

The symptoms of CF are:

  • chronic coughing
  • shortness of breath
  • frequent lung infections
  • frequent sinusitis
  • frequent nasal polyps
  • inflammation of the pancreas (pancreatitis)
  • trouble gaining weight
  • salty and sweaty skin
  • inability to tolerate heat
  • fertility problems
  • arthritis

What causes cystic fibrosis?

CF is caused by a mutation (change) in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene helps control salt and water in the cells and affects the production of mucus, sweat and digestive fluids.

Both parents must carry the faulty cystic fibrosis gene for the disease to be passed to their child. If both parents carry the gene, there is a 1 in 4 chance of it being passed on in each pregnancy.

You can be a CF carrier and not have any symptoms.

How is cystic fibrosis diagnosed?

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 in every 100 babies with CF.

If a baby has a positive heel prick test, they should then have a sweat test at about 6 weeks old to see if they either have the disorder or are a healthy carrier of the faulty gene.

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

How is cystic fibrosis managed?

While CF cannot be cured, there are treatments to manage it.

People with CF must consume up to 60 pills a day to help them digest food, and may do up to 4 hours of physiotherapy every day.

Management usually involves:

  • physiotherapy every day to clear the lungs
  • capsules to replace enzymes to help digest food
  • antibiotics for lung infections
  • puffers to open the airways
  • salt and vitamin supplements
  • a special diet

Some people with CF will need a lung transplant to prolong their lives. Other may need a liver or pancreas transplant.

Complications of cystic fibrosis

CF can affect the skin, pancreas, liver, intestines, sinuses, and sex organs.

Eventually, people with CF develop lung failure.

Resources and support

Cystic Fibrosis Australia

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Last reviewed: December 2020

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