SYMPTOMS | DIAGNOSIS | TREATMENTS

► Symptoms

Symptoms are usually (but not always) recognized by age 2. Symptoms seen in infancy include:

• Delayed growth
• Failure to gain weight normally in childhood
• No bowel movements in the first 24-48 yours of life
• Salty-tasting skin

Other symptoms related to the gastrointestinal tract that may occur from infancy onward include:

• Belly pain from severe constipation
• Increased gas, bloating, or a belly that appears swollen (distended)
• Nausea and loss of appetite
• Stools that are pale or clay colored, foul smelling, have mucus, or that float
• Weight loss

Symptoms that may occur from childhood onward related to the lungs and sinuses include:

• Coughing or increased mucus in the sinuses or lungs
• Fatigue
• Nasal congestion caused by nasal polyps
• Recurrent episodes of pneumonia
• Sinus pain or pressure caused by infection or polyps

Symptoms that may be noticed later in life include:

• Infertility (in men)
• Repeated inflammation of the pancreas (pancreatitis)
• Respiratory symptoms

► Diagnosis

CF can be diagnosed when characteristic clinical symptoms are present with one or more of the following:

• Immunoreactive trypsinogen (IRT) - This is now a standard newborn screening test for CF. A high level of IRT suggests possible CF and requires further testing.
• Sweat chloride test is the standard diagnostic test for CF. A high salt level in the patient's sweat is a sign of the disease.
• Cystic fibrosis gene analysis testing.
  

► Treatments

CF treatment encompasses individualized therapies for each organ system involved in a particular patient. Some of the therapies that may be used include:

Lung disease

• Chest therapies to improve mucous clearance. These can include a percussion vest, manual chest percussion, A-capella, Flutter valve, or TheraPEP device. These therapies should be done 1-4 times per day depending on lung status
• DNAse enzyme therapy (Pulmozyme®) to thin mucous and make it easier to cough up
• Inhaled bronchodilators (albuterol, levalbuterol, others) to help open the airways
• Inhaled hypertonic saline to improve mucous clearance
• Inhaled antibiotics
• Antibiotics by mouth or through veins to decrease bacterial colonization in the airways
• Flu vaccine yearly
• Regular aerobic exercise
• Pneumococcal vaccine
• Oxygen therapy if needed if lung disease worsens
• Lung transplantation may be needed as lung disease worsens

Gastrointestinal and nutritional disease

• A special diet high in protein and calories for older children and adults
• Pancreatic enzymes to help absorb fats and protein
• Vitamin supplements, especially vitamins A, D, E, and K

Diabetes

• Glucose monitoring and insulin therapy

General health recommendations

• Avoid smoke, dust, dirt, fumes, household chemicals, fireplace smoke, and mold or mildew
• Drink plenty of fluids. This is particularly true for infants, children, in hot weather, when there is diarrhea or loose stools, or during extra physical activity
• Exercise two or three times each week. Swimming, jogging, and cycling are good options