Cystic fibrosis

Cystic fibrosis is an inherited disorder caused by variants in the CFTR gene. Impaired salt and water transport produces thick, sticky secretions that damage the lungs, digestive system, and other organs.

CFTR: CFTR is an epithelial ion channel that transports chloride and bicarbonate and helps regulate salt and water balance. Variants in this protein impair airway and intestinal secretion, producing the characteristic thick mucus.
CFTR modulator: A CFTR modulator is a medicine that improves the production, processing, or activity of particular CFTR proteins. These drugs address the underlying protein defect for people with responsive CFTR variants.
Autosomal recessive inheritance: Autosomal recessive inheritance occurs when a person inherits disease-causing variants in both copies of an autosomal gene. Cystic fibrosis usually develops when both inherited CFTR copies carry disease-causing variants.
Primary ciliary dyskinesia: Primary ciliary dyskinesia is an inherited disorder in which defective motile cilia impair mucus clearance and organ development. It can resemble cystic fibrosis with chronic respiratory disease but arises from ciliary defects, not CFTR dysfunction.
Cystic fibrosis-related diabetes: Cystic fibrosis-related diabetes is a distinct form of diabetes caused by pancreatic damage associated with cystic fibrosis. Progressive pancreatic injury can disrupt insulin production and complicate cystic fibrosis care.
Mucociliary clearance: Mucociliary clearance is the airway process that moves inhaled particles and microbes upward in mucus for removal. Dehydrated mucus in cystic fibrosis resists transport, allowing pathogens and secretions to accumulate.
Elexacaftor/tezacaftor/ivacaftor: Elexacaftor/tezacaftor/ivacaftor is a combination medicine that improves CFTR protein processing and channel activity. This combination substantially improves CFTR function for many people with eligible variants.
CFTR gene: The CFTR gene encodes a membrane protein that transports chloride and bicarbonate ions. Its variants are the inherited cause of cystic fibrosis.
Asthma: Asthma is a chronic airway disease marked by variable airflow obstruction and airway inflammation. Both can cause breathing problems, but asthma does not produce cystic fibrosis's inherited CFTR defect.
Meconium ileus: Meconium ileus is intestinal obstruction in a newborn caused by unusually thick meconium. It can be an early sign of cystic fibrosis because intestinal secretions are abnormally thick.

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