Cystic fibrosis

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Clubbed fingers

Clubbing

Cystic fibrosis

Postural drainage

Because there are more than 1,000 mutations of the CF gene, symptoms differ from person to person. But in general they include:

• No bowel movements in first 24 to 48 hours of life
• Stools that are pale or clay colored , foul smelling, or that float
• Infants may have salty-tasting skin
• Recurrent respiratory infections, such as pneumonia or sinusitis
• Coughing or wheezing
• Weight loss, or failure to gain weight normally in childhood
• Diarrhea
• Delayed growth
• Fatigue

In May 2005, the U.S. Food and Drug Administration approved the first DNA-based blood test to help detect CF. The test looks for variations in a gene known to cause the disease. Other tests use to diagnose CF include:

• Sweat chloride test . This is the standard diagnostic test for CF. A high salt level in the patient's sweat indicates the disease.
• Fecal fat test
• Upper GI and small bowel series
• Measurement of pancreatic function

Cystic fibrosis may alter the results of the following tests:

• Trypsin and chymotrypsin in stool
• Secretin stimulation test
• Chest x-ray or CT scan
• Lung function tests

Review Date: 06/08/2005
Reviewed By: Thomas A. Owens, MD, Departments of Internal Medicine and Pediatrics, Duke University Medical Center. Review provided by VeriMed Healthcare Network.