Cystic Fibrosis Home A-Z Health Information Health Library A-Z Cystic Fibrosis Overview Cystic fibrosis (CF) is a genetic (inherited) disorder that is characterised by the build-up of thick phlegm (mucus) and other fluids in different parts of the body, including the lungs and the digestive system (pancreas, liver and intestine). This mucus clogs the airways, making it difficult to breathe. Because of these issues, many people consider CF a lung disease, but it is called “cystic fibrosis” as it is also characterised by cysts and scarring in the pancreas. Causes and Risk Factors CF is caused by a mutation (abnormality) in the CFTR gene. To inherit the disease, a person needs to inherit the mutated gene from both the parents. An individual’s parents do not have to have CF for them to have CF. Individuals with just one copy of the CFTR mutant are called carriers.The thick mucus in the lungs causes people with CF to get frequent lung infections. Over time, these infections damage and destroy the lung architecture and functioning. The thick fluids in the pancreas and liver keep the intestine from absorbing certain nutrients from food. This affects a person’s growth and causes problems with bowel movements. Symptoms CF signs and symptoms vary, depending on the severity of the disease. Even in the same person, symptoms may worsen or improve as time passes. Some people may not exhibit symptoms until their teenage years or adulthood. People who are not diagnosed until adulthood usually have milder disease and are more likely to have atypical symptoms.Common symptoms of CF include:No weight gainLong-lasting cough: The cough usually brings up mucus and sounds "wet." Some people cough up blood.Trouble breathing or breathing that sounds like whistling (wheezing).Frequent infections of the lungs or sinuses (i.e., pneumonia, bronchitis, sinusitis).Salty skin, i.e., if your child has CF, you might taste salt when you kiss them.Belly pain, diarrhoea, or constipation (trouble having bowel movements).Loose, oily or bad-smelling stool.Infertility.Although CF is progressive and requires daily care, people with CF are usually able to attend school and go to work. Individuals with CF, in the present era, usually have a better quality of life than those in the previous decades. Diagnosis The tests for CF include:Newborn screening: This test is done soon after birth.“Sweat test”: During this test, the doctor makes a person sweat and then measures the amount of salt in the sweat.Blood tests to check for the abnormal gene.Pulmonary function tests: These tests evaluate lung performance.Sputum culture: Mucus coughed up by the lungs is tested for bacteria as certain bacteria, like Pseudomonas, are commonly found in people with CF. Treatment Medicines called “CFTR modulators” help manage symptoms arising because of abnormal genes. Usually provided after genetic tests.Antibiotics to help prevent or treat infections.Bronchodilators are given through inhalers or nebulisers to open up the airways.Chest physiotherapy: This includes exercises designed to help break and loosen the mucus in the lungs and make it easier for the patient to cough it out and clear the airways to reduce infections in the future.Lung transplant: In cystic lung disease surgery, a surgeon replaces a person's diseased lungs with healthy lungs. A lung transplant is done only an individual has severe disease and meets certain conditions.