Cystic fibrosis

Definition

Cystic fibrosis is a genetic disorder that affects the respiratory and digestive systems, characterized by the production of thick and sticky mucus that can lead to severe lung infections and difficulties in digesting food. This condition results from mutations in the CFTR gene, which disrupts the normal flow of chloride ions in and out of cells, causing various complications throughout the body.

5 Must Know Facts For Your Next Test

1. Cystic fibrosis is one of the most common inherited disorders among Caucasians, affecting approximately 1 in 3,500 newborns.
2. The thick mucus produced in cystic fibrosis can clog airways, leading to chronic lung infections and respiratory failure over time.
3. Patients with cystic fibrosis often require a multi-faceted treatment approach, including medications, physical therapy, and nutritional support.
4. Newborn screening for cystic fibrosis has become standard practice in many countries, allowing for early diagnosis and intervention.
5. Life expectancy for individuals with cystic fibrosis has improved significantly due to advancements in medical treatments and therapies, with many living into their 30s or beyond.

Review Questions

• How does the CFTR gene mutation contribute to the symptoms observed in cystic fibrosis?
  • The CFTR gene mutation leads to the production of a faulty protein that fails to regulate chloride ions effectively. This disruption causes an imbalance of salt and water in cells, resulting in the thick and sticky mucus characteristic of cystic fibrosis. The buildup of this mucus clogs airways and obstructs pancreatic ducts, leading to respiratory issues and digestive problems commonly seen in affected individuals.
• Discuss the implications of autosomal recessive inheritance for families affected by cystic fibrosis.
  • Autosomal recessive inheritance means that both parents must carry one copy of the mutated CFTR gene for their child to be affected by cystic fibrosis. This can lead to uncertainty and stress for families, especially if they are unaware of their carrier status. Genetic counseling may be recommended to help families understand their risks and options for family planning, as well as the potential impact on future children.
• Evaluate how advancements in medical treatments have impacted the management and prognosis of cystic fibrosis patients over recent decades.
  • Advancements in medical treatments have dramatically improved the management and prognosis of cystic fibrosis patients. New therapies targeting the underlying genetic defect, along with better medications to manage symptoms such as inhaled antibiotics and mucus thinners, have enhanced lung function and reduced infection rates. Furthermore, increased awareness through newborn screening programs allows for early diagnosis, leading to timely interventions that have extended life expectancy significantly. These changes illustrate a shift towards a more proactive approach in managing this complex genetic disorder.

Related terms

CFTR gene: A gene that provides instructions for making a protein called cystic fibrosis transmembrane conductance regulator, which is essential for regulating the movement of salt and water in and out of cells.

Autosomal recessive inheritance: A pattern of inheritance where two copies of an abnormal gene must be present for the disease or trait to develop, as seen in cystic fibrosis.

Pulmonary function tests: Tests that measure how well the lungs are working, often used to monitor lung function in individuals with cystic fibrosis.