Cystic Fibrosis Disease
an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation:
- Which genetic mutations are commonly associated with the disease?
- Why is the patient presenting with the specific symptoms described?
- Discuss the pathophysiological mechanisms of the disease in detail.
- What do the blood test results tell us about the disease and disease progression?
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Cystic Fibrosis Disease
Genetic Mutations Associated with Cystic Fibrosis
Cystic fibrosis is primarily caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene. The most common mutation is ΔF508, which results in misfolded CFTR protein that fails to reach the cell surface. Other mutations include G542X and G551D. These mutations impair chloride ion transport, leading to abnormal fluid balance across epithelial membranes, and directly contribute to mucus buildup in the lungs and digestive system.
Symptom Presentation in Patients
Patients often present with persistent cough, wheezing, and recurrent lung infections. These symptoms occur due to thick mucus obstructing the airways, creating an environment conducive to bacterial colonization. Gastrointestinal symptoms, such as poor weight gain and greasy stools, result from blocked pancreatic ducts, impairing enzyme secretion and nutrient absorption. Additionally, the salty taste on the skin is due to abnormal chloride and sodium transport across sweat glands, a hallmark feature of the condition.
Pathophysiological Mechanisms
The core pathophysiology of cystic fibrosis lies in defective ion transport. Dysfunctional CFTR channels prevent chloride and bicarbonate movement, causing dehydration of airway surfaces. This leads to thickened secretions that impair mucociliary clearance. The stagnant mucus triggers chronic inflammation, tissue damage, and recurrent infections. In the pancreas, blocked ducts cause fibrosis, while in the reproductive system, abnormal mucus results in infertility. This multi-organ impact explains the wide symptom spectrum observed in patients.
Blood Test Results and Disease Progression
Blood tests often show elevated white blood cell counts, indicating chronic infection and inflammation. High levels of C-reactive protein (CRP) further confirm systemic inflammation. Electrolyte imbalances, such as increased chloride levels, correlate with sweat test results, confirming diagnosis. Over time, worsening hypoxemia and abnormal liver enzymes reflect disease progression, highlighting the systemic burden of cystic fibrosis. Regular blood monitoring helps track organ damage and effectiveness of treatment.
