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Cystic fibrosis

Symptoms: 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 Signs and tests: 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 Text Continues Below 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 References: US Food and Drug Administration. FDA Approves First DNA-based Test to Detect Cystic Fibrosis. Rockville, MD: National Press Office; May 16, 2005. Press Release P05-23.  Cystic Fibrosis Foundation. What is CF? Available at http://www.cff.org/about_cf/what_is_cf/. Accessed May 16, 2005.

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