Cards (120)

    • What type of disorder is Cystic Fibrosis?
      Genetic
    • Cystic Fibrosis is caused by mutations in the CFTR
    • The CFTR protein functions as a channel for potassium ions.
      False
    • What is the most common mutation in the CFTR gene that causes CF?
      ΔF508
    • Cystic Fibrosis follows an autosomal recessive inheritance pattern.
    • Excessive mucus production is a common symptom of Cystic Fibrosis.
    • Steps in the diagnosis of Cystic Fibrosis
      1️⃣ Newborn screening
      2️⃣ Sweat test
      3️⃣ Genetic testing
    • Genetic counseling for Cystic Fibrosis helps carriers understand their risks
    • Current research in Cystic Fibrosis focuses on improving treatment options.
    • Which organs are affected by Cystic Fibrosis?
      Lungs, pancreas, digestive system
    • Match the function of the CFTR protein with its description:
      Chloride ion channel ↔️ Regulates fluid balance
      Membrane protein ↔️ Embedded in cell membranes
      Fluid regulation ↔️ Ensures adequate mucus secretion
    • Which mutation in the CFTR gene is caused by the deletion of a phenylalanine residue?
      ΔF508
    • Cystic Fibrosis is inherited through autosomal recessive inheritance.
    • If both parents are carriers of the CFTR gene, their offspring have a 25% chance of developing CF.
    • What are the primary symptoms of Cystic Fibrosis?
      Excessive mucus, lung infections
    • What type of disorder is Cystic Fibrosis?
      Genetic disorder
    • Cystic Fibrosis is caused by mutations in the CFTR
    • Cystic Fibrosis primarily affects the lungs, pancreas, and digestive system.
    • What is a main symptom of Cystic Fibrosis related to mucus production?
      Excessive mucus production
    • The CFTR protein regulates fluid flow across cell membranes
    • What does the CFTR protein function as in cell membranes?
      Chloride ion channel
    • The CFTR protein is essential for regulating fluid balance in the lungs and pancreas.
    • The CFTR protein regulates the flow of fluids in organs like the lungs and pancreas
    • Where is the CFTR protein located in the body?
      Cell membranes of organs
    • Steps in the ΔF508 mutation process
      1️⃣ Phenylalanine is removed at position 508
      2️⃣ Protein misfolds
      3️⃣ Protein is degraded
    • Cystic Fibrosis is inherited through autosomal recessive
    • Individuals with Cystic Fibrosis must inherit one copy of the mutated gene from each parent.
      False
    • What is the phenotype of an individual with the Cc genotype in CF inheritance?
      Carrier (no symptoms)
    • In a Punnett square of two carrier parents, 25% of offspring inherit CC and are normal
    • What is a key symptom of Cystic Fibrosis in the lungs?
      Excessive mucus production
    • Match the symptom of Cystic Fibrosis with the affected organ/system:
      Excessive mucus production ↔️ Lungs
      Digestive issues ↔️ Pancreas
    • Cystic Fibrosis symptoms include excessive mucus production in the lungs, which causes breathing difficulties
    • Frequent lung infections in Cystic Fibrosis are caused by the accumulation of mucus in the airways.
    • The symptoms of Cystic Fibrosis arise from a defective CFTR protein.
    • Excessive mucus production is a symptom of Cystic Fibrosis.
    • Digestive issues in Cystic Fibrosis are caused by pancreatic insufficiency.
    • Order the diagnostic tests for Cystic Fibrosis from earliest to most confirmatory:
      1️⃣ Newborn Screening
      2️⃣ Sweat Chloride Test
      3️⃣ Genetic Testing
    • What enzyme is analyzed in newborn screening for Cystic Fibrosis?
      Immunoreactive trypsinogen (IRT)
    • The Sweat Chloride Test is considered the "gold standard" for CF diagnosis.
    • A sweat chloride level of 60 mmol/L is considered positive for Cystic Fibrosis.