Glossary of CF Terminology

CFTR - Cystic fibrosis transmembrane conductance regulator. The protein functions as an ion channel that allows transmission of chloride ions through the cell membrane. CFTR is found in the epithelial cells of many organs including the lungs, pancreas, liver, digestive tract, reproductive tract, and skin. Mutations of the gene coding for this protein cause the disease cystic fibrosis.

DF508 - (delta F508) The most common mutation of the CFTR protein, caused by a deletion of three nucleiotides resulting in the loss of a phenylalanine amino acid. This causes the CFTR protein to be deformed in such a way that it is degraded in the endoplasmic reticulum (protein manufacturing part of cells) and never makes it to the cell membrane.

FEV1 - Forced expiratory volume in one second. A measure of lung function that calculates the amount of air a patient can exhale in one second; one of the most common measures of lung function for CF patients is the percent normal FEV1, or the amount the patient can exhale compared with the normal average for his weight/gender.

Hypertonic Saline - A form of salt water that is made into a mist and inhaled as a therapy for CF patients.

Lipase - The enzyme that digests fat. CF patients often have a degree of pancreatic insufficiency, meaning the lipase enzymes get blocked from excess mucus in the ducts of the pancreas. Patients instead take capsules of lipase enzymes when they eat, so their food can be digested.

Nasal Potential Difference (NPD) - A measure of voltage changes across the nasal epithelia and is used as a direct measure of CFTR activity and chloride ion movement in upper airway epithelial cells.

Nebulizer - a device used to administer medication to people in forms of a liquid mist to the airways

Pulmozyme - the first drug specifically developed for CF. This drug thins mucus in the lungs by breaking up DNA fragments that accumulate from white blood cells fighting bacteria during the chronic infections from which many CF patients suffer.

Pseudomonas aeruginosa (P. aeruginosa) - A bacterium that often colonizes in the lungs of CF patients, causing chronic infections and frequently leading to a decline in lung function.