Cystic fibrosis (CF) is a genetic disorder. The gene CF affects salt and water movement in and out of cells, so CF affects the cells that produce mucus, sweat and digestive juices. These fluids are normally thin and slippery, but cystic fibrosis causes them to become sticky and thick. So, people with CF experience a build-up of thick sticky mucus in the lungs, digestive system and other organs.
How is cystic fibrosis diagnosed?
Cystic fibrosis can be diagnosed during newborn screening as a part of the heel prick test, and for babies with positive results, this is followed up with a sweat test.
There are ways to test for it in pregnancy too if there is a risk of CF involved.
What are the symptoms?
Symptoms of cystic fibrosis may include skin tasting very salty, persistent coughing (with phlegm sometimes), frequent infections in the lungs, shortness of breath, not being able to gain enough weight even though the patient has a good appetite and clubbing of the fingertips and toes.
How is it treated?
It is crucial that CF patients receive treatments that will enable them to live healthier and longer lives. These treatments may come in many different ways. These consist of:
- Airway clearance and inhaled medicines: helps to loosen and clear out the thick mucus build-up in the lungs
- Pancreatic enzyme supplements: these improve the body’s capacity to absorb vital nutrients
- A fitness plan: helps improve energy and lung function
- CFTR modulators: targets the underlying defects in the CFTR protein (these are highly specialized and the medications are effective in only people with specific mutations so far)
- “What is cystic fibrosis?”, Cystic Fibrosis Trust. https://www.cysticfibrosis.org.uk/what-is-cystic-fibrosis
- “About cystic fibrosis”, Cystic Fibrosis Foundation. https://www.cff.org/intro-cf/about-cystic-fibrosis
- “Cystic fibrosis”, Mayo Clinic, 2021. https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700