Cystic Fibrosis

Definition

Cystic fibrosis is a genetic disorder that primarily affects the respiratory and digestive systems. It is caused by a mutation in the CFTR gene, which is responsible for regulating the movement of salt and water in and out of cells. This disruption leads to the production of thick, sticky mucus that can clog the lungs and obstruct the pancreas, causing a range of health complications.

5 Must Know Facts For Your Next Test

1. Cystic fibrosis is one of the most common genetic disorders in the United States, affecting approximately 30,000 individuals.
2. The most common symptom of cystic fibrosis is chronic lung infections, which can lead to progressive lung damage and respiratory failure if left untreated.
3. Digestive issues, such as malnutrition and pancreatic enzyme deficiency, are also common in individuals with cystic fibrosis due to the buildup of mucus in the pancreas.
4. Advances in treatment, including the development of new medications and therapies, have significantly improved the life expectancy of individuals with cystic fibrosis, with many now living into their 40s or 50s.
5. Genetic counseling and newborn screening are important for the early detection and management of cystic fibrosis, as early intervention can help prevent or delay the onset of severe symptoms.

Review Questions

• Describe the role of the CFTR gene in the development of cystic fibrosis.
  • The CFTR gene is responsible for producing a protein that regulates the movement of salt and water in and out of cells. Mutations in this gene, particularly the most common mutation, F508del, lead to the production of a defective CFTR protein, which disrupts the balance of salt and water in the body. This results in the production of thick, sticky mucus that can accumulate in the lungs, pancreas, and other organs, causing the various health complications associated with cystic fibrosis.
• Explain the inheritance pattern of cystic fibrosis and the importance of genetic counseling.
  • Cystic fibrosis is an autosomal recessive genetic disorder, meaning an individual must inherit two copies of the mutated CFTR gene, one from each parent, to develop the condition. If an individual inherits only one copy of the mutated gene, they are considered a carrier and can pass the mutation on to their children. Genetic counseling is crucial for individuals with a family history of cystic fibrosis or those who are considering having children, as it can help them understand the risk of passing on the genetic mutation and make informed decisions about family planning and prenatal testing.
• Analyze the impact of advancements in cystic fibrosis treatment on the prognosis and quality of life for individuals with the condition.
  • Significant advancements in the treatment of cystic fibrosis, such as the development of new medications and therapies, have dramatically improved the prognosis and quality of life for individuals with the condition. These advancements have helped to manage the various symptoms and complications associated with cystic fibrosis, including chronic lung infections, digestive issues, and malnutrition. As a result, the life expectancy for individuals with cystic fibrosis has increased, with many now living into their 40s or 50s, a marked improvement from the past when the condition was often fatal in childhood. The improved prognosis and quality of life have had a profound impact on the lives of individuals with cystic fibrosis and their families, allowing them to lead more fulfilling and independent lives.

Related terms

CFTR Gene: The cystic fibrosis transmembrane conductance regulator (CFTR) gene provides instructions for making a protein that regulates the movement of salt and water in and out of cells. Mutations in this gene lead to the development of cystic fibrosis.

Mucus Buildup: In cystic fibrosis, the CFTR gene mutation causes the production of thick, sticky mucus that can accumulate in the lungs, pancreas, and other organs, leading to various health complications.

Genetic Inheritance: Cystic fibrosis is an autosomal recessive genetic disorder, meaning an individual must inherit two copies of the mutated CFTR gene, one from each parent, to develop the condition.