Cystic fibrosis : Symptoms & Signs, Diagnosis & Tests

Symptoms & Signs

Because there are more than 1,000 mutations of the CF gene, symptoms differ from person to person.

Symptoms in newborns may include:

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

Symptoms related to bowel function may 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 related to the lungs and sinuses may include:

  • Coughing or increased mucus in the sinuses or lungs
  • Fatigue
  • Nasal congestion caused by nasal polyps
  • Recurrent episodes of pneumonia. Symptoms in someone with cystic fibrosis include:
    • Fever
    • Increased coughing
    • Increased shortness of breath
    • Loss of appetite
    • More sputum
  • Sinus pain or pressure caused by infection or polyps

Diagnosis & Tests

A blood test is available to help detect CF. The test looks for variations in a gene known to cause the disease. Other tests use to diagnose CF include:

  • Immunoreactive trypsinogen (IRT) test is 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.

Other tests that identify problems that can be related to cystic fibrosis include:

  • Chest x-ray or CT scan
  • Fecal fat test
  • Lung function tests
  • Measurement of pancreatic function
  • Secretin stimulation test
  • Trypsin and chymotrypsin in stool
  • Upper GI and small bowel series


Review Date : 5/11/2009 Reviewed By : Daniel Rauch, MD, FAAP. Director, Pediatric Hospitalist Program, Associate Professor of Pediatrics, NYU School of Medicine, New York, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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