Cystic fibrosis - Diagnosis

How is cystic fibrosis diagnosed?

In the context of a newborn screening, the sweat and blood of the infant are examined. If the enzyme trypsin is increased in the blood, this indicates mucoviscidosis. If this test is positive twice, the sweat test follows. If the perspiration collected from the child's forearm contains too much sodium and chloride (salts), the suspicion is strengthened.

If no newborn screening has been carried out and the suspicion of mucoviscidosis comes later (with you or your child), go to the family doctor or internist. They will initially focus on your medical history and possibly illnesses in the family.

Further diagnostics:

  • Auscultating the lungs and palpating the internal organs
  • X-ray examinations (show blockages of airways and digestive organs)
  • Sweat test (also in adults)
  • Blood test (indicates functional limitations of the organs)

If there is a case of mucoviscidosis within the family, all other family members should also be examined. The disease can also occur in an attenuated form and only become noticeable later. Nevertheless, here it is also necessary to start with a timely treatment.