Cystic Fibrosis

Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body. Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery. But in people with CF, a defective gene causes the secretions to become sticky and thick. Instead of acting as lubricants, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.

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Causes of Cystic Fibrosis

The main cause for cystic fibrosis is a genetic defect, specifically the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is responsible for changing the protein that regulates the movement of salt in and out of cells.

Symptoms of Cystic Fibrosis

Cystic fibrosis signs and symptoms vary, depending on the severity of the disease. Most signs of CF affect the respiratory system and digestive system. Some of the most common symptoms include:

Respiratory signs and symptoms

• Persistent cough that produces thick mucus
• Wheezing
• Not able to tolerate exercise well
• Repeated lung infections
• Stuffy nose

Digestive signs and symptoms

• Foul-smelling, greasy stools
• Poor weight gain and growth
• Chronic or severe constipation

Diagnosis of Cystic Fibrosis

To diagnose cystic fibrosis, your doctor will typically perform a physical exam, review your symptoms and conduct several tests. Some of the following are options:

Diagnostic tests and procedures

• Genetic testing
• Computed tomography (CT scan)
• Blood tests

Treatment of Cystic Fibrosis

There is no cure for cystic fibrosis, but treatment can ease symptoms, reduce complications and improve quality of life. Some treatment options include:

Medications

• Antibiotics will help treat and prevent lung infections
• Anti-inflammatory medications will help lessen swelling in the airways in your lungs
• Mucus-thinning medications will help you cough up the mucus
• Bronchodilators will help keep your airways open by relaxing the muscles around your bronchial tubes
• Oral pancreatic enzymes will help your digestive tract absorb nutrients

Medical and surgical procedures

• Oxygen therapy
• Lung transplant