Question

Diagnosis and management of cystic fibrosis.

Hint:

Early diagnosis and regular management with a multidisciplinary team are crucial to improving outcomes in cystic fibrosis.

Answer 1

Step 1: Understanding Cystic Fibrosis.
Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene, which leads to the production of thick, sticky mucus that affects the lungs, digestive system, and other organs. CF causes chronic respiratory infections, digestive problems, and other complications.
Step 2: Diagnosis of Cystic Fibrosis.
- Sweat Test: The most common diagnostic test for CF, measuring chloride levels in sweat. A chloride concentration greater than 60 mmol/L is considered diagnostic for CF.
- Genetic Testing: CF can be diagnosed by identifying mutations in the CFTR gene. This is especially useful in cases where the sweat test results are inconclusive.
- Newborn Screening: Many countries have implemented newborn screening for CF, which involves measuring levels of immunoreactive trypsinogen (IRT) and, if necessary, confirming with genetic testing.
Step 3: Management of Cystic Fibrosis.
The management of CF is multidisciplinary, aiming to manage symptoms, prevent infections, and improve quality of life:
1. Airway Clearance: Chest physiotherapy and devices like flutter valves and high-frequency chest wall oscillation help loosen mucus, making it easier to expel.
2. Antibiotics: Chronic respiratory infections are common, and antibiotics are prescribed based on cultures of sputum or lung secretions to target specific bacteria, such as *Pseudomonas aeruginosa*.
3. Pancreatic Enzyme Replacement: Many CF patients experience pancreatic insufficiency, and enzyme replacement therapy is essential to aid digestion and nutrient absorption.
4. CFTR Modulators: These are newer treatments that target the defective CFTR protein. Medications like ivacaftor, lumacaftor, and tezacaftor help improve the function of the CFTR protein, especially in patients with specific mutations.
5. Lung Transplantation: In cases of end-stage lung disease, lung transplantation may be considered.
Step 4: Complications and Prognosis.
CF can lead to severe complications such as lung failure, diabetes, and infertility in men. The prognosis has improved over the years due to advances in treatment, but CF remains a life-limiting condition.