Cystic Fibrosis

Infants with CF typically have increased levels of IRT, an inactive form of trypsin, due to leakage into circulation after pancreatic injury.  Trypsin is produced solely by the pancreas and is necessary for protein uptake during digestion.  Symptoms of CF include failure to thrive, chronic respiratory infections and nutritional deficiencies.  

Screening Method:

First Tier:  Fluoroimmunometric assay measurement of IRT.
Second Tier:  DNA mutation analysis for patients with IRT levels in the top 5%. 

Treatment:

Nutritional and medical treatment, preferably from a CF Foundation-accredited care center.

Incidence:

1:2,500 Caucasian births