Cystic Fibrosis

Definition

Cystic fibrosis is a genetic disorder caused by mutations in the CFTR gene, leading to the production of thick, sticky mucus that can clog airways and affect various organs. This disorder primarily impacts the respiratory, digestive, and reproductive systems, resulting in serious health complications. The malfunctioning CFTR protein disrupts the balance of salt and water in epithelial tissues, which is essential for normal membrane function and homeostasis.

5 Must Know Facts For Your Next Test

1. Cystic fibrosis is an autosomal recessive disorder, meaning a person must inherit two copies of the mutated gene to express symptoms.
2. The most common mutation associated with cystic fibrosis is ΔF508, which results in misfolding of the CFTR protein.
3. Patients with cystic fibrosis often experience chronic lung infections due to mucus buildup that traps bacteria, leading to progressive lung damage.
4. Therapies for cystic fibrosis may include enzyme replacement, inhaled medications to thin mucus, and antibiotics to treat infections.
5. Newer treatments called CFTR modulators are designed to improve the function of the defective CFTR protein and can significantly enhance quality of life for many patients.

Review Questions

• How does cystic fibrosis affect membrane structure and function in epithelial tissues?
  • Cystic fibrosis directly impacts membrane structure and function by disrupting chloride ion transport through the CFTR protein. When the CFTR protein is defective or absent, chloride ions cannot move properly across epithelial cell membranes. This causes an imbalance in salt and water levels, leading to the production of thick mucus that clogs airways and other ducts. The resulting changes in membrane permeability disrupt normal physiological processes and contribute to the severe symptoms associated with cystic fibrosis.
• Discuss how the genetic basis of cystic fibrosis leads to its clinical manifestations involving multiple organ systems.
  • The genetic mutations causing cystic fibrosis primarily affect the CFTR gene, which encodes for a protein essential for ion transport in epithelial cells. This dysfunction leads to thickened mucus in various organs, most notably the lungs, pancreas, and intestines. In the lungs, mucus accumulation results in chronic infections and inflammation; in the pancreas, it obstructs enzyme release necessary for digestion. As a result, patients exhibit respiratory issues as well as nutritional deficiencies due to impaired digestion.
• Evaluate the impact of advancements in treatment options on the prognosis of cystic fibrosis patients.
  • Advancements in treatment options have significantly improved the prognosis for cystic fibrosis patients over recent decades. Therapies such as CFTR modulators target the underlying genetic defect by enhancing CFTR protein function, while other treatments focus on symptom management like mucus clearance and infection control. These developments have led to increased life expectancy and better quality of life for individuals with cystic fibrosis. Ongoing research continues to refine existing therapies and explore new approaches aimed at addressing this complex disease.

Related terms

CFTR Protein: The cystic fibrosis transmembrane conductance regulator (CFTR) protein is responsible for regulating the movement of chloride ions across epithelial cell membranes, crucial for maintaining fluid balance.

Epithelial Cells: Cells that line surfaces and cavities of organs and structures throughout the body, playing a key role in the secretion and absorption processes, significantly affected in cystic fibrosis.

Pulmonary Function Tests: Tests used to assess lung function and measure how well air moves in and out of the lungs, important for monitoring respiratory health in individuals with cystic fibrosis.