Cystic Fibrosis Quiz

Understanding Cystic Fibrosis: A Comprehensive Guide

Cystic Fibrosis (CF) is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. This guide provides foundational knowledge essential for students in health sciences, patients, and families seeking to understand the condition better.

What is the Genetic Basis of Cystic Fibrosis?

CF is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. This gene provides instructions for the CFTR protein, which acts as a channel for chloride ions. When the protein is faulty, the balance of salt and water is disrupted, leading to thick, sticky mucus in various organs. It is an autosomal recessive disorder, meaning an individual must inherit two copies of the mutated gene—one from each parent—to have the disease.

Key Symptoms and Clinical Manifestations

Symptoms of CF can vary widely but commonly involve the respiratory and digestive systems. Key signs include:

• Persistent coughing, at times with phlegm
• Frequent lung infections including pneumonia or bronchitis
• Wheezing or shortness of breath
• Poor growth or weight gain in spite of a good appetite
• Frequent greasy, bulky stools or difficulty with bowel movements
• Very salty-tasting skin

The Diagnostic Process: From Newborn Screening to Sweat Test

Diagnosis often begins with newborn screening, which is mandatory in many countries. If the screening is positive, a “sweat test” is performed. This test measures the amount of chloride in sweat and is the gold standard for diagnosing CF. A high chloride level confirms the diagnosis. Genetic testing can also be used to identify specific CFTR mutations.

Modern Treatment Approaches and Therapies

While there is no cure for CF, a multi-faceted treatment approach can manage symptoms and improve quality of life. This includes:

• Airway Clearance: Techniques to loosen and clear mucus from the lungs.
• Medications: Including antibiotics to fight infections, mucolytics to thin mucus, anti-inflammatories, and CFTR modulators that target the underlying protein defect.
• Nutritional Support: A high-calorie, high-fat diet with pancreatic enzyme supplements.

Nutritional and Digestive Management in CF

The majority of people with CF have pancreatic insufficiency, where thick mucus blocks the pancreas from releasing digestive enzymes. This leads to malabsorption of nutrients. Management involves taking pancreatic enzyme replacement therapy (PERT) with every meal and snack, along with a high-calorie diet and supplements for fat-soluble vitamins (A, D, E, K).

The Importance of Airway Clearance

Daily airway clearance is crucial for people with CF. Techniques range from manual chest physiotherapy (CPT) to devices like high-frequency chest wall oscillation vests (The Vest) or Positive Expiratory Pressure (PEP) devices. These methods help move mucus out of the airways, reducing the risk of infection and lung damage.

This quiz and informational guide are intended for educational purposes only and are not a substitute for professional medical advice, diagnosis, or treatment.