Cystic Fibrosis

Definition

Cystic fibrosis is a genetic disorder that affects the respiratory, digestive, and reproductive systems, leading to the production of thick and sticky mucus that can cause severe respiratory and digestive problems. This condition is caused by mutations in the CFTR gene, which is responsible for the regulation of salt and water movement across cell membranes. Understanding cystic fibrosis involves recognizing its inheritance pattern, primarily an autosomal recessive trait, and its multifactorial impacts on health.

5 Must Know Facts For Your Next Test

1. Cystic fibrosis is caused by mutations in the CFTR gene located on chromosome 7, with the most common mutation being ΔF508.
2. The condition leads to the accumulation of thick mucus in the lungs, which creates an environment for bacterial growth, often resulting in chronic lung infections.
3. Patients with cystic fibrosis frequently experience digestive problems due to blocked pancreatic ducts, which prevent the release of digestive enzymes.
4. The disease has a significant impact on life expectancy, but advancements in treatment have greatly improved survival rates and quality of life.
5. Symptoms of cystic fibrosis can include persistent cough, frequent lung infections, difficulty breathing, and malabsorption issues leading to poor growth in children.

Review Questions

• How does the mutation in the CFTR gene lead to the clinical manifestations observed in cystic fibrosis?
  • The mutation in the CFTR gene disrupts the normal function of the CFTR protein, which is essential for regulating salt and water transport across epithelial cell membranes. This dysfunction results in the production of thick and sticky mucus that clogs airways and obstructs pancreatic ducts. The accumulation of mucus leads to respiratory issues like chronic infections and lung damage while also causing digestive complications due to impaired enzyme secretion from the pancreas.
• Discuss the implications of cystic fibrosis being an autosomal recessive disorder for genetic counseling.
  • Since cystic fibrosis is an autosomal recessive disorder, both parents must be carriers of a CFTR gene mutation for their child to be affected. This has important implications for genetic counseling as parents with a family history of cystic fibrosis may benefit from carrier testing. Understanding inheritance patterns allows families to make informed reproductive choices and prepare for potential health challenges associated with this condition.
• Evaluate the advancements in treatment options for cystic fibrosis and how they have influenced patient outcomes.
  • Recent advancements in treatments for cystic fibrosis, such as CFTR modulators that target specific mutations, have significantly improved patient outcomes. These therapies enhance the function of the defective CFTR protein, leading to better mucus clearance and reduced frequency of lung infections. The introduction of such targeted therapies, combined with comprehensive care strategies like nutritional support and airway clearance techniques, has not only increased life expectancy but also improved overall quality of life for individuals with cystic fibrosis.

Related terms

CFTR Gene: The gene responsible for cystic fibrosis, which encodes a protein that helps regulate salt and water movement in and out of cells.

Autosomal Recessive Disorder: A type of genetic disorder where two copies of an abnormal gene must be present for the disease or trait to develop.

Pancreatic Insufficiency: A condition often seen in cystic fibrosis patients where the pancreas does not produce enough enzymes to properly digest food, leading to malnutrition.