Cystic fibrosis

Definition

Cystic fibrosis is a genetic disorder that affects the respiratory, digestive, and reproductive systems due to a mutation in the CFTR gene, which encodes for a protein responsible for regulating the movement of chloride ions across epithelial cell membranes. This disorder results in the production of thick, sticky mucus that clogs airways and leads to severe respiratory issues, as well as affecting pancreatic function and nutrient absorption.

5 Must Know Facts For Your Next Test

1. Cystic fibrosis primarily affects the lungs and digestive system, leading to recurrent lung infections and difficulty in digesting food.
2. The CFTR gene mutation can cause varying severity of symptoms among individuals, influenced by other genetic and environmental factors.
3. Patients with cystic fibrosis are at higher risk for developing diabetes due to pancreatic dysfunction, which can impair insulin production.
4. Treatment options for cystic fibrosis include airway clearance techniques, medications such as mucolytics and antibiotics, and potentially lung transplantation in severe cases.
5. Newborn screening programs have greatly improved early detection of cystic fibrosis, allowing for earlier interventions and better management of the condition.

Review Questions

• What is the underlying genetic mechanism of cystic fibrosis and how does it impact the CFTR protein's function?
  • Cystic fibrosis is caused by mutations in the CFTR gene, leading to the production of a defective CFTR protein. This protein is essential for regulating chloride ion transport across epithelial cell membranes. When the CFTR protein doesn't function properly, it disrupts the balance of salt and water in tissues, causing the thick, sticky mucus characteristic of cystic fibrosis. This mucus builds up in the lungs and other organs, leading to severe complications.
• Discuss how cystic fibrosis affects both respiratory and digestive systems in affected individuals.
  • In individuals with cystic fibrosis, thick mucus obstructs airways, leading to frequent lung infections and inflammation known as bronchiectasis. This persistent blockage hampers airflow and gas exchange, resulting in breathing difficulties. In the digestive system, the same thick mucus can block pancreatic ducts, impairing enzyme delivery for digestion. This can lead to malabsorption of nutrients, poor growth, and gastrointestinal issues.
• Evaluate the advancements in treatment for cystic fibrosis and their potential impact on patient quality of life.
  • Recent advancements in cystic fibrosis treatment have significantly improved patient quality of life. New medications target the underlying defect in the CFTR protein, enhancing its function and improving lung function. Additionally, developments in airway clearance techniques and nutritional therapies help manage symptoms effectively. The introduction of newborn screening allows for early diagnosis and intervention, leading to better outcomes and extended life expectancy for those with cystic fibrosis. Overall, these innovations are transforming how the disease is managed.

Related terms

CFTR protein: The cystic fibrosis transmembrane conductance regulator protein that is crucial for maintaining the balance of salt and water on epithelial surfaces.

Autosomal recessive inheritance: A pattern of inheritance where two copies of an abnormal gene must be present for the disease or trait to develop, which is how cystic fibrosis is inherited.

Bronchiectasis: A chronic condition characterized by the abnormal dilation of the bronchi due to inflammation and infection, often seen in patients with cystic fibrosis.