2.5.1 Cystic Fibrosis

• The CFTR protein maintains the proper balance of fluids and mucus in the body.
• Where is the CFTR protein primarily located in the body?

  Cell membranes
• The most common mutation in the CFTR gene is called ΔF508.
• Individuals with one copy of the mutated CFTR gene are carriers of Cystic Fibrosis.
• What is the probability of offspring inheriting Cystic Fibrosis if both parents are carriers?

  25%
• Excessive mucus production is a main symptom of Cystic Fibrosis.
• Cystic Fibrosis is caused by mutations in the CFTR
• Cystic Fibrosis affects only the lungs and pancreas

  False
• One of the main symptoms of Cystic Fibrosis is excessive mucus production
• Digestive issues in Cystic Fibrosis are often due to pancreatic insufficiency
• Steps leading to Cystic Fibrosis symptoms

  1️⃣ CFTR protein dysfunction

  2️⃣ Improper fluid regulation

  3️⃣ Excessive mucus buildup

  4️⃣ Organ-specific symptoms
• What type of protein does the CFTR gene encode?

  Chloride ion channel
• The CFTR protein regulates the flow of fluids in organs like the lungs and pancreas
• Match the function with its location in the body:

  Chloride ion channel ↔️ Cell membranes of various organs

  Fluid regulation ↔️ Lungs, pancreas, intestines
• What is the most common mutation in the CFTR gene?

  ΔF508 deletion
• Cystic Fibrosis follows an autosomal recessive inheritance
• What is Cystic Fibrosis caused by?

  Mutations in the CFTR gene
• The CFTR protein functions as a channel for chloride ions.
• Cystic Fibrosis follows an autosomal recessive inheritance pattern.
• Common symptoms of Cystic Fibrosis:

  1️⃣ Excessive mucus production

  2️⃣ Frequent lung infections

  3️⃣ Digestive issues
• How is Cystic Fibrosis diagnosed?

  Genetic testing ||| Sweat test
• Genetic counseling is available for carriers of the CF gene.
• What is the focus of current research in Cystic Fibrosis?

  New treatment options
• The CFTR protein helps regulate the flow of fluids across cell membranes.
• Match the function, location, and importance of the CFTR protein:

  Chloride ion channel ↔️ Cell membranes of various organs

  Fluid regulation ↔️ Lungs, Pancreas, Intestines
• Carriers of the CFTR mutation do not develop Cystic Fibrosis
• What is the probability that two carrier parents will have a child with CF?

  25%
• One of the primary symptoms of Cystic Fibrosis in the lungs is excessive mucus production
• Why do Cystic Fibrosis patients experience digestive issues?

  Pancreatic insufficiency
• Symptoms of Cystic Fibrosis arise from the defective CFTR protein
• One symptom of Cystic Fibrosis is excessive mucus production in the lungs
• The defective CFTR protein affects multiple organs in Cystic Fibrosis.
• The defective protein in Cystic Fibrosis is called CFTR
• Match the symptom with the effect on the organ/system:

  Excessive mucus production ↔️ Breathing difficulties

  Frequent lung infections ↔️ Chronic infections

  Digestive issues ↔️ Malabsorption of nutrients
• The CFTR protein affects only the lungs in Cystic Fibrosis.

  False
• The "gold standard" test for CF diagnosis is the sweat chloride test.
• Match the chloride level in mmol/L with its interpretation:

  <30 ↔️ Normal

  30-59 ↔️ Borderline

  ≥60 ↔️ Positive for CF
• Genetic testing is used to confirm specific CFTR gene mutations associated with CF.
• Pulmonary function tests measure key parameters such as FEV1 and FVC
• Pancreatic function tests evaluate the pancreas' ability to produce digestive enzymes.