Cystic fibrosis

Definition

Cystic fibrosis is a genetic disorder that affects the respiratory, digestive, and reproductive systems, leading to the production of thick, sticky mucus. This abnormal mucus can clog airways and create a breeding ground for bacteria, resulting in chronic infections and respiratory problems. The disorder is caused by mutations in the CFTR gene, which encodes for a protein that functions as an ion channel, playing a crucial role in the transport of chloride ions across epithelial cell membranes.

5 Must Know Facts For Your Next Test

1. Cystic fibrosis primarily affects the lungs, leading to difficulty breathing due to mucus buildup, chronic coughing, and frequent lung infections.
2. The CFTR gene is located on chromosome 7, and more than 2,000 different mutations have been identified that can cause cystic fibrosis.
3. Individuals with cystic fibrosis may also experience pancreatic insufficiency because the thick mucus obstructs the release of digestive enzymes from the pancreas.
4. Newborn screening for cystic fibrosis has become common practice, allowing for earlier diagnosis and treatment interventions to improve patient outcomes.
5. Advances in CFTR modulators have revolutionized treatment by targeting specific mutations in the CFTR gene, improving lung function and quality of life for many patients.

Review Questions

• How does the malfunction of the CFTR protein contribute to the symptoms experienced by individuals with cystic fibrosis?
  • The CFTR protein normally regulates the flow of chloride ions and water in and out of epithelial cells. In cystic fibrosis, mutations in the CFTR gene lead to a dysfunctional protein, which results in imbalanced ion transport. This dysfunction causes thick and sticky mucus to form in the lungs and other organs, leading to chronic respiratory infections, inflammation, and digestive issues due to impaired mucus clearance.
• Discuss how advancements in gene therapy could potentially change the treatment landscape for cystic fibrosis patients.
  • Advancements in gene therapy aim to correct or replace faulty genes responsible for cystic fibrosis. By delivering functional copies of the CFTR gene to affected cells or utilizing techniques like CRISPR to edit mutations directly, these therapies could restore normal CFTR function. This approach holds promise for addressing the underlying cause of cystic fibrosis rather than just managing its symptoms, potentially improving long-term outcomes for patients.
• Evaluate the impact of personalized medicine on the treatment strategies for cystic fibrosis based on individual genetic profiles.
  • Personalized medicine tailors treatment strategies based on an individual's specific genetic mutations related to cystic fibrosis. With over 2,000 known mutations in the CFTR gene, some patients may respond better to particular CFTR modulators than others. By analyzing each patient's genetic profile, healthcare providers can prescribe targeted therapies that enhance efficacy and minimize side effects. This approach not only improves patient care but also represents a shift towards more effective and individualized treatment paradigms in cystic fibrosis management.

Related terms

CFTR protein: Cystic fibrosis transmembrane conductance regulator (CFTR) is a protein that functions as a chloride channel in epithelial cells, crucial for maintaining fluid balance in various tissues.

ion transport: The movement of ions across cell membranes through channels or transporters, essential for maintaining cellular homeostasis and function.

mucus clearance: The process by which mucus is moved out of the airways, important for keeping the respiratory system free of pathogens and debris.