Question

Clinical Features of Cystic Fibrosis.

Hint:

A salty taste to the skin is a characteristic sign of cystic fibrosis due to increased chloride concentrations in sweat.

Answer 1

Cystic fibrosis affects multiple organ systems, and its clinical features can vary in severity. The most common systems involved are the respiratory and gastrointestinal systems.
1. Respiratory System:
- Chronic cough and sputum production: Due to thick mucus accumulation in the lungs.
- Recurrent respiratory infections: Caused by bacterial colonization of the lungs (e.g., *Pseudomonas aeruginosa*, *Staphylococcus aureus*).
- Wheezing and shortness of breath: Resulting from airway obstruction and inflammation.
- Clubbing of the fingers and toes: Often seen in advanced disease due to chronic hypoxia.
2. Gastrointestinal System:
- Pancreatic insufficiency: Most patients with CF have difficulty digesting food due to a lack of enzymes produced by the pancreas, leading to malabsorption, poor growth, and steatorrhea (fatty stools).
- Meconium ileus: A condition where the first stool is abnormally thick and can cause intestinal obstruction in newborns.
- Chronic diarrhea: Due to malabsorption and bile salt deficiency.
- Liver disease: Progressive liver damage and cirrhosis can occur in some patients.
3. Reproductive System:
- Infertility in males: A majority of men with CF are infertile due to congenital absence of the vas deferens.
- Reduced fertility in females: Due to thick cervical mucus.
4. Other Features:
- Salty sweat: Increased sodium and chloride concentrations in sweat are a hallmark of CF and can be detected by a sweat chloride test.