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Understanding cystic fibrosis
Audience: patients-public, students-learners ยท Review state: published
What it is
Cystic fibrosis is an inherited condition in which a faulty gene disrupts the movement of salt and water in and out of cells. The result is thick, sticky mucus that clogs the lungs and blocks the pancreas and other organs.
It is most common in people of Northern European ancestry. A child develops it only when they inherit the faulty gene from both parents, who are usually healthy carriers with no symptoms themselves.
Symptoms
In the lungs, thick mucus causes a persistent cough, repeated chest infections, wheezing, and over time damaged airways. In the digestive system, blocked pancreatic ducts mean food is not broken down properly, leading to poor growth in children, greasy stools, and vitamin deficiencies.
Other features can include very salty-tasting skin, sinus problems, and in men, infertility.
Diagnosis
Many countries screen newborns with a heel-prick blood test. When screening or symptoms suggest cystic fibrosis, a sweat test, which measures salt in sweat, confirms the diagnosis, and genetic testing identifies the exact mutations.
Carrier testing is available for people with a family history or planning a pregnancy.
Treatment and outlook
Daily care centers on clearing the airways with physiotherapy techniques and inhaled medicines, preventing and treating infections with antibiotics, and replacing digestive enzymes with food. A high-calorie diet and vitamin supplements support growth.
Newer medicines called CFTR modulators correct the faulty protein for many people, depending on their mutations, and have transformed the outlook. Life expectancy has risen steadily, and many people with cystic fibrosis now live well into adulthood with work, family, and full lives.
Limitations
General educational overview, not medical advice and not a diagnosis. Cystic fibrosis care is specialized and managed by dedicated centers.