Cystic fibrosis

Definition

Cystic fibrosis (CF) is a genetic disorder that affects the respiratory and digestive systems, caused by mutations in the CFTR gene. It leads to thick, sticky mucus production, which obstructs airways and promotes bacterial infections.

5 Must Know Facts For Your Next Test

1. CFTR gene mutations disrupt chloride ion transport, leading to thickened mucus.
2. Pseudomonas aeruginosa is a common bacterial pathogen in CF patients' lungs.
3. Sweat chloride test is a primary diagnostic tool for cystic fibrosis.
4. Gene therapy is being explored as a treatment option for correcting defective CFTR genes in CF patients.
5. CF patients often suffer from chronic respiratory infections due to impaired mucociliary clearance.

Review Questions

• How do mutations in the CFTR gene contribute to cystic fibrosis?
• What role does Pseudomonas aeruginosa play in cystic fibrosis lung infections?
• What diagnostic test is commonly used to confirm cystic fibrosis?

Related terms

CFTR Gene: A gene that codes for a protein involved in chloride ion transport; mutations cause cystic fibrosis.

Pseudomonas Aeruginosa: A bacterium frequently causing chronic respiratory infections in cystic fibrosis patients.

Mucociliary Clearance: A mechanism involving cilia and mucus to remove pathogens from the respiratory tract, often impaired in CF.