Cystic Fibrosis
Cystic Fibrosis
Genetic disorder that affects the lungs, pancreas, reproductive, digestive, skin and other organs. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene normally provides instructions for making a protein that regulates the transport of salt and water in and out of cells. The CFTR protein is defective, leading to the production of thick, sticky mucus in the airways and other organs.
The thick mucus can obstruct the airways and make it difficult to breathe, leading to frequent lung infections, coughing, and wheezing. It can also cause problems with digestion and nutrient absorption in the intestines.
Cystic fibrosis is a chronic and progressive disease that requires lifelong management and treatment.
Key Words
- Autosomal Recessive Disorder
- CFTR gene
- Both parents must be carriersÂ
- Defect in transport of salt and waterÂ
- Sticky mucus in airways
- Frequent Lung Infections
- Chronic progressive disease
Cystic Fibrosis
Inheritance
Signs and Symptoms
Cystic Fibrosis affects lungs, skin, pancreas, digestive, reproductive system and other organs
Salty-Tasting Skin and electrolyte imbalances
Frequent Lung Infections
Greasy, foul smelling stools (Steatorrhea), abdominal pain, & constipation
Pancreas: Deficient insulin = Diabetes
Deficient Pancreatic Enzymes (Protease, amylase, & lipase)
Thick mucus causes gallstones & biliary cirrhosis
Infertility due to thick mucus plugging deferens & cervix
Meconium ileus in infants
Symptoms
- Persistent coughing with thick, sticky mucus
- Wheezing or shortness of breath
- Recurrent lung infections, such as pneumonia or bronchitis
- Poor growth or weight gain, despite a good appetite
- Frequent greasy, bulky stools or difficulty with bowel movements
- Abdominal pain or discomfort
- Chronic sinus infections
- Clubbing of fingers and toes (enlargement of the tips of the digits)
- Infertility
- Electrolyte imbalance, which can cause dehydration, weakness, fatigue, and even heat stroke or seizures in extreme cases.
- High calorie diet
- Chest Physiotherapy
- Chest percussion and vibration
- Antibiotics such as azithromycin
- Pancreatic enzymes. Perform at least 2 hours after meals.
- Mucolytics such as Dornase.
- Cystic fibrosis clients should stay away at least 6 feet from each other to prevent cross-infection. Never cohort two CF clients!
