Dr. M.J. Bazos, MD Patient Handout

CYSTIC FIBROSIS (CF)

About Your Diagnosis

Cystic fibrosis is an inherited disease resulting from the abnormal transport of sodium and chloride (salt) within certain cells (epithelial cells) that form the mucus and sweat glands of the body. Because of this abnormality, thick and sticky mucus is produced that clogs the airways of the lungs, producing frequent infections. This disorder can also cause blockage of certain areas of the pancreas, preventing enzymes made by the pancreas and necessary for absorption of nutrients from reaching the small intestine. The lack of these enzymes can cause poor absorption of necessary nutrients. Cystic fibrosis is the most common fatal genetic disease in the United States. It is more common in Caucasians, occurring in 1 of every 2,000 births. Approximately 1,300 new cases are diagnosed each year. Currently there are more than 30,000 individuals affected with CF in the United States. Cystic fibrosis is an autosomal recessive disorder. This means that for a child to have CF, he must inherit a CF gene from each parent. There are more than 12 million Americans (1 in 20) who are asymptomatic carriers of the CF gene. Each time a child is conceived by two carriers, there is a 50% chance that the child will be a carrier and a 25% chance that the child will have CF. If your physician suspects CF, a “sweat test” will be performed. It is a painless test that measures the amount of salt in the child’s sweat. An abnormally high level of salt confirms the diagnosis. Siblings of any children with CF should also be tested.

Living With Your Diagnosis
Children with CF have chronic cough and recurrent bronchitis and pneumonia caused by obstruction of the lung airways. Chronic diarrhea, bulky foul-smelling stools, and excessive appetite (but poor weight gain) are also common because of deficiency of pancreatic enzymes. Intestinal blockage in the newborn caused by increased thickness of the first stool (meconium) may be the first sign of CF. Abnormalities of the sweat glands also cause “salty-tasting skin,” usually noted by parents when kissing the affected baby.

Treatment
The type of treatment will depend on the stage of the disease and which organs are involved. Postural drainage and chest percussion are often used to dislodge thick mucus from the lungs. Medications are also available to thin thick mucus and prevent clogging of the airways. Antibiotics are also often prescribed for suspected infections. Pancreatic enzyme preparations to supply missing digestive enzymes, and special diets (high protein, low fat) may be used to improve nutrition.

The DOs
Some broad considerations for drug therapy include the use of (1) antibiotics, either nebulized, intravenous, or oral, adjusted for the susceptibility of the organisms found for each patient; (2) inhaled bronchodilators; (3) pancreatic enzyme supplements; (4) high-calorie nutritional supplements; (5) mucus-thinning agents such as acetylcysteine (Mucomyst) or DNAse; and (6)insulin, in a few cases. Family and patient education is very important because of the many questions and problems encountered.

The DON’Ts
• Don’t forget to take proper precautions to avoid infections and excessive dehydration.
• Don’t miss appointments scheduled by your doctor.
• Don’t stop your antibiotics early or forget to perform chest physical therapy if advised by your doctor.

When to Call Your Doctor
The time to see or call your doctor differs for each patient with CF. A close partnership is required between family and caregivers to live as normal a life as possible.