How is CF Diagnosed?

Diagnostic Tools:

• Observation of clinical signs
• "Sweat test" (above 40 mmol/L Cl- and either pancreas involvement or recurrent lung infections)
• Amniocentesis (with genetic analysis)
• Chorionic villi sampling (CVS) (with genetic analysis)
• Genetic testing for mutations
• Screening of newborns possible with blood trypsin value (Chymotrypsin?)

Manifestations:

• Sweat glands (high electrolytes),
• Pancreatic disease (exocrine insufficiency, disruption of exocrine function),
• Intestinal glands (meconium ileus)
• Diabetes due to destroyed pancreas
• Liver disease (biliary cirrhosis, biliary tract obstruction),
• Dehydrated mucous in the airways Lung infections (chronic bronchopulmonary infection),
• Reduced lung function
• Infertility in male (vas deferens blocked), less in female

All of these result in reduced life expectancy.

Some Other Facts:

Great phenotypic variations 15% of CFers are pancreatic sufficient resulting from multiple, different mutations 25% higher rates of energy expenditure

Testing for Carriers

There is also a test to determine if you are a carrier for several of the most common mutations that cause CF. There are something like four hundred mutations identified so far, though, so the test can tell you are a carrier, but if it comes back negative, you just know it's unlikely.