What is cystic fibrosis?
Cystic fibrosis affects the lungs, airways and digestive system because of a malfunction in the exocrine system, responsible for producing saliva, sweat, tears and mucus.
People with CF develop an abnormal amount of excessively thick and sticky mucus, which causes impairment of the digestive functions of the pancreas and traps bacteria in the lungs resulting in recurrent infections. Lung failure is the major cause of death.
The CF gene must be inherited from both parents and it can skip generations. About 1 in 25 people carry a CF-causing gene, resulting in about 1 in 2500 babies being born with the disease. Most are unaware they are carriers.
All newborns are subject to a heel prick test, which screens for a number of conditions, including cystic fibrosis. It does not detect every case so the definitive test continues to be the Sweat Test, as high levels of salt in perspiration is extremely common amongst those with CF.
How is cystic fibrosis treated?
Constant treatments are needed, including physiotherapy to clear the lungs, enzyme replacement capsules to aid digestion, antibiotic therapy to treat lung infections, and aerosol mist inhalations via a nebuliser to help open the airways.
Kids with cystic fibrosis need to eat extra calories to stay healthy - following a nutritious diet that is also high in fat, salt and sugar. As their sweat is about five times saltier than normal, they need to maintain water intake and take salt tablets. Exercise is an important tool to help clear the mucus and build strength.
Our research impact
The internationally collaborative research program Australian Respiratory Early Surveillance Team for Cystic Fibrosis (AREST CF) is a joint program in WA at the The Kids Research Institute Australia and Murdoch Children's Research Institute (MCRI) in Melbourne. It aims to translate scientific research into clinical outcomes and has made significant progress in understanding the key drivers of CF lung disease. Early intervention is touted as the key to preventing lung damage in young children and improving the lives of people with cystic fibrosis.
Early surveillance
Data has demonstrated that lung disease occurs much earlier than previously thought, even within the first few months of life so by the time a child with CF reaches six years of age, most have progressive lung disease. CT scans of the chest can now be used to measure the extent of lung damage in children as young as one, by overlaying a grid on the CT image, and allocating each grid square a colour based on the presence of various lung abnormalities. This method has enabled clinical trials to be performed with younger children, aimed at preventing rather than reversing lung damage.
Drug hope
Researchers also discovered that children with neutrophil elastase, a potentially damaging by-product of inflammation, in their lungs at three months are at higher risk of developing bronchiectasis - a form of irreversible lung damage - by the age of three. This has lead to a clinical trial of a drug, azithromycin, to determine if it will prevent the onset of bronchiectasis.
