Cystic Fibrosis and Ivacaftor

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Questions and Answers

A child inherits cystic fibrosis. What is the probability that both parents are carriers of the disease, assuming it is an autosomal recessive trait?

  • 75%
  • 50%
  • 25%
  • 100% (correct)

Which of the following best describes the primary mechanism by which mutations in the CFTR protein cause organ obstruction in cystic fibrosis patients?

  • Increased mucus viscosity due to impaired chloride ion transport. (correct)
  • Inflammation caused by an overactive immune response.
  • Overproduction of mucus-secreting cells in affected organs.
  • Formation of insoluble protein aggregates within the cells.

Dornase alfa is prescribed for a cystic fibrosis patient. What describes its mechanism of action in managing this condition?

  • It directly combats bacterial infections in the lungs.
  • It breaks down DNA in the mucus, thinning it. (correct)
  • It reduces inflammation in the airways.
  • It decreases the production of thick mucus.

A young adult with cystic fibrosis is prescribed ivacaftor. How does this medication improve lung function in patients with specific CFTR mutations?

<p>By improving the function of defective CFTR protein at the cell surface. (D)</p> Signup and view all the answers

Which of the following signs or symptoms is LEAST likely to be associated with bacterial pneumonia?

<p>Gradual onset of mild fever and fatigue (A)</p> Signup and view all the answers

What accounts for the primary treatment approach for bacterial pneumonia?

<p>Broad-spectrum antibiotics to cover common bacterial pathogens (B)</p> Signup and view all the answers

What is the key distinction between latent and active tuberculosis (TB) regarding transmissibility?

<p>Latent TB is not contagious, while active TB is contagious. (C)</p> Signup and view all the answers

An individual with latent tuberculosis is not treated. In what time frame will they most likely develop active tuberculosis?

<p>5% (D)</p> Signup and view all the answers

A patient is prescribed isoniazid, rifampin, pyrazinamide, and ethambutol (RIPE) for active tuberculosis. Which adverse effect is most closely associated with ethambutol?

<p>Optic neuritis (D)</p> Signup and view all the answers

A patient is diagnosed with active tuberculosis and started on the RIPE drug regimen. After an initial intensive phase, how long is the typical continuation phase of treatment, involving fewer medications?

<p>18 weeks (C)</p> Signup and view all the answers

Which of the following mechanisms is primarily targeted by treatments aimed at reducing organ obstruction in cystic fibrosis?

<p>Decreasing the viscosity of mucus secretions (A)</p> Signup and view all the answers

A patient with cystic fibrosis experiences frequent respiratory infections. How does the altered CFTR protein contribute to increased susceptibility to these infections?

<p>By causing a decrease in mucociliary clearance (A)</p> Signup and view all the answers

Which of the following best describes the rationale for prescribing multiple antibiotics for the treatment of active tuberculosis?

<p>To prevent the development of drug resistance (B)</p> Signup and view all the answers

A patient being treated for active tuberculosis develops jaundice and complains of abdominal pain. Which of the RIPE drugs is most likely contributing to these symptoms?

<p>Pyrazinamide (D)</p> Signup and view all the answers

A patient presents with a persistent cough, night sweats, and unexplained weight loss. Which diagnostic test is most appropriate to initially screen for active tuberculosis?

<p>Chest X-ray (B)</p> Signup and view all the answers

How does dornase alfa improve respiratory function in patients with cystic fibrosis?

<p>It breaks down DNA in the airway secretions, reducing mucus viscosity. (C)</p> Signup and view all the answers

A patient with a confirmed diagnosis of latent tuberculosis is otherwise healthy and asymptomatic. What is the primary goal of treating this patient with isoniazid?

<p>To prevent progression to active tuberculosis (D)</p> Signup and view all the answers

A patient with cystic fibrosis is started on ivacaftor. What is the most likely mechanism by which this drug improves the patient's condition?

<p>By improving the function of the defective CFTR protein (C)</p> Signup and view all the answers

A patient is diagnosed with bacterial pneumonia. Which of these findings would be most indicative of the need for hospitalization rather than outpatient treatment?

<p>Oxygen saturation of 90% on room air (C)</p> Signup and view all the answers

A patient with latent tuberculosis is prescribed isoniazid as a preventative measure. Which supplement is commonly co-administered with isoniazid to prevent a potential adverse effect?

<p>Vitamin B6 (pyridoxine) (C)</p> Signup and view all the answers

Flashcards

Cystic Fibrosis (CF)

Cystic fibrosis is an inherited disorder caused by a mutation in the CFTR gene, leading to thick mucus buildup and organ damage.

Respiratory Changes in CF

CF affects the lungs by causing mucus plugging, chronic infections, inflammation, bronchiectasis, and respiratory failure.

Dornase Alfa

Dornase alfa is a mucolytic enzyme that breaks down extracellular DNA in the respiratory secretions of CF patients, reducing mucus viscosity and improving lung function.

Ivacaftor MOA

Ivacaftor is a CFTR potentiator that improves chloride transport in patients with specific CFTR mutations.

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Pneumonia

Pneumonia is an infection of the lungs that can be caused by bacteria, viruses, or fungi, leading to inflammation and fluid accumulation.

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Treatment of Bacterial Pneumonia

Bacterial pneumonia is commonly treated with antibiotics: macrolides (azithromycin, clarithromycin), doxycycline, or beta-lactams (amoxicillin, amoxicillin/clavulanate).

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Latent vs. Active TB

Latent TB is an asymptomatic infection where the bacteria is inactive, while active TB presents with symptoms and can be transmitted to others.

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% of latent => active TB

Untreated latent TB has a 5-10% to progress to active TB

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Treatment of Latent TB

Latent TB is usually treated with one antibiotic, such as isoniazid, for 6-9 months to prevent progression to active TB.

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Treatment of Active TB

Active TB is treated with multiple antibiotics (RIPE: Rifampin, Isoniazid, Pyrazinamide, Ethambutol) for 2 months, followed by a continuation phase to ensure eradication.

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CF inheritance

Cystic fibrosis is inherited as an autosomal recessive trait.

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CFTR Gene

CF is caused by a mutation in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene/protein.

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Organ Obstruction in CF

In CF, thick, sticky mucus obstructs organs, especially the lungs and pancreas.

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Isoniazid Adverse Effect

Major adverse effect is hepatotoxicity.

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RIPE Drugs

Rifampin, Isoniazid, Pyrazinamide, Ethambutol.

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Pneumonia Symptoms

Fever, cough (productive or non-productive), chest pain, shortness of breath, and fatigue.

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Active TB Symptoms

Night sweats, fever, cough, weight loss, and fatigue.

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TB diagnostic tests

Skin test or blood test to check for M. tuberculosis infection.

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Study Notes

  • Cystic fibrosis is an inherited autosomal recessive trait.
  • Cystic fibrosis is caused by a mutation in the CFTR gene/protein.
  • Obstruction to organs in patients with CF is caused by thick, sticky mucus.
  • Respiratory changes that can occur in CF include chronic coughing, wheezing, and shortness of breath, and frequent lung infections.
  • Dornase alfa is a mucolytic that selectively cleaves DNA, thus reducing mucous viscosity in CF patients.
  • Other treatments that can be used to manage CF include:
    • Airway clearance techniques
    • Inhaled antibiotics
    • Anti-inflammatory medications
    • Pancreatic enzyme replacement therapy
    • CFTR modulators

Ivacaftor

  • Mechanism of action: CFTR potentiator that improves chloride transport.
  • Adverse effects: headache, upper respiratory tract infection, nasal congestion, nausea, rash, and changes in liver enzymes.
  • Drug interactions: strong CYP3A inhibitors and inducers.
  • Clinical considerations: Liver function tests, pregnancy status, and other medications.

Pneumonia

  • Presentation of signs/symptoms: cough, fever, chest pain, shortness of breath, and fatigue.
  • Bacterial pneumonia is usually treated with antibiotics.

Tuberculosis

  • Latent TB: TB lives but doesn't grow in the body, and does not make you sick or contagious.
  • Active TB: TB is active and grows in the body, and makes you sick and contagious.
  • 5-10% of patients with latent TB will develop active TB in their lifetime if untreated, some will develop active TB in one year if untreated.
  • Patient presentation of signs and symptoms include:
    • A bad cough that lasts 3 weeks or longer
    • Pain in the chest
    • Coughing up blood or sputum
    • Weakness or fatigue
    • Weight loss
    • No appetite
    • Chills
    • Fever
    • Sweating at night
  • Diagnostic Tests include a tuberculin skin test (TST) or a TB blood test and a chest x-ray.
  • Patients with latent TB are usually treated with one antibiotic.
  • Patients with active TB are treated with four antibiotics for two months and then the treatment is altered for an 18-week continuation phase.

RIPE Drugs

  • Rifampin: Hepatotoxicity, orange discoloration of bodily fluids, and drug interactions.
  • Isoniazid: Hepatotoxicity and peripheral neuropathy (treat with pyridoxine - Vitamin B6).
  • Pyrazinamide: Hepatotoxicity and hyperuricemia.
  • Ethambutol: Optic neuritis (blurred vision and color blindness).

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