Cystic Fibrosis Glossary
Autosomal recessive disorder: A genetic disorder that requires you inherit the faulty gene from both your mother and father.
Bronchiectasis: Permanent reshaping and weakening of the airway
Bronchodilator: Medicine used to widen the airways so that other medicines, such as antibiotics, can get deeper into the lungs.
Carrier: If an individual only has one copy of a CFTR gene mutation, they don’t have CF, but they are a “carrier.”
CF-related diabetes: A type of diabetes that only people with CF get due to pancreatic damage. It has characteristics of Type 1 and Type 2 diabetes.
Chromosome 7 (7q31.2): The location the CFTR gene that causes cystic fibrosis.
Clubbing: Widening or rounding of the fingertips or toes.
Cystic fibrosis (CF): A progressive, genetic disease that causes the body’s mucus to become thick and sticky causing breathing problems and major organ damage.
Cystic fibrosis transmembrane conductance regulator (CFTR) gene: A mutation in this gene prevents the CFTR protein from working properly. A properly made CFTR protein helps cells move chloride, an element in salt, to the cell surface. In CF, the CFTR protein malfunctions can’t move chloride properly. Without chloride, water isn’t attracted to the cell surface, resulting in a thick, sticky mucus building up in the lungs and other organs.
CFTR modulators: The newest type of drugs for people with CF. Work by correcting the malfunctioning protein that causes of CF rather than treating symptoms.
CFTR mutation: The CFTR gene regulates the movement of chloride through cell walls. Five different classes, or types, of mutations have been identified that cause cystic fibrosis.
Exacerbation: Times of acute infection or inflammation of the airways. Often requires hospitalization.
F508del: The most common genotype among people with CF.
FEV1: Stands for forced expiratory volume in 1 second. An indicator of lung function.
G-tube: An enteral feeding tube, commonly called a "g-tube," is a thin tube that is inserted through the nose and into the stomach or directly into the stomach with a small “button” visible on the abdomen. The g-tube allows for overnight feedings to boost nutritional intake.
Genotype: The genetic makeup of a cell.
Gastroesophageal reflux disease (GERD): A condition where stomach acid flows back into the esophagus. Commonly known as acid reflux, acid indigestion, or heartburn.
IEP and 504 plans: Educational plans for children and teens with special needs.
Infertility: Problems getting pregnant in females or causing a pregnancy in males.
Lung function: A critical measure of overall health and likelihood for survival in a person with CF.
Lung transplant: Major surgery that replaces both lungs damaged by CF with healthy lungs.
Meconium ileus: An infant’s first stool. Problems passing the first stool can be one of the first signs of CF.
Mucus thinners: Medicines that thin the mucus, making it easier to expel from the body. Also known as mucolytics.
Nasal polyp: Growth in the nose or sinuses.
Nebulizer: Device used to deliver inhaled medicines to the lungs.
Osteoporosis: A condition where the bones become weak and brittle, increasing the risk of fracture.
Pancreatic enzyme replacement therapy (PERT): Enzymes taken with every meal and snack to help with digestion.
Pancreatitis: Inflammation of the pancreas.
Phenotype: Characteristics you can see that result from a combination of genotype and the environment.
Pneumothorax: Collapsed lung
Pulmonary function test: Tests to measure how well the lungs are working. Common tests measure lung volume, capacity, rates of flow, and gas exchange.
Pulmonologist: Doctor who specializes in lung diseases.
Sweat test: Test that measures salt content of a baby’s sweat. Used to confirm a diagnosis of CF.
Theratype: A group of CFTR variants.
Thrush: A yeast infection, or overgrowth of candida. Often appears in the mouth or vagina but can appear anywhere in the body.
Vans deferens: The duct, or tube, that moves sperm from the testicle to the urethra. This is blocked in 98% of males with CF.
Vest: An airway clearance device worn around the chest to loosen mucus. Also called a high-frequency chest wall oscillator.