Cystic Fibrosis
Cystic fibrosis (CF) is a genetic disorder that primarily affects the lungs and digestive system. It is caused by mutations in the CFTR gene, which encodes a protein that regulates the flow of salt and water in and out of cells. These mutations lead to the production of thick, sticky mucus that can clog the airways and obstruct the pancreas, leading to respiratory and digestive problems.
Genetics
CF is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated CFTR gene (one from each parent) to develop the disease. Carriers of the CFTR mutation (heterozygous individuals) do not typically show symptoms of the disease but can pass the mutation on to their children.
Symptoms
The symptoms of CF can vary widely, but common signs include persistent coughing, frequent lung infections, difficulty breathing, poor growth or weight gain, salty-tasting skin, and digestive issues such as greasy stools and difficulty gaining weight.
Diagnosis
CF can be diagnosed through newborn screening, genetic testing, and sweat tests to measure the amount of salt in the sweat, which is typically elevated in individuals with CF.
Treatment
There is no cure for CF, but treatment aims to manage symptoms and improve quality of life. This may include airway clearance techniques, medications to thin mucus and reduce inflammation, enzyme supplements to aid digestion, and nutritional support to maintain a healthy weight.
Study Guide
- Describe the genetic basis of cystic fibrosis and explain why it is considered an autosomal recessive disorder.
- Explain how mutations in the CFTR gene lead to the characteristic symptoms of cystic fibrosis.
- Discuss the methods used to diagnose cystic fibrosis, including newborn screening and sweat tests.
- Outline the various treatment options available for individuals with cystic fibrosis and their impact on managing the disease.
- Compare and contrast the symptoms of cystic fibrosis in the respiratory and digestive systems.
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