When a person has a sweat test that gives an intermediate (borderline) result and a genetic test that shows only one CF gene mutation, he or she is said to have CFTR-related metabolic syndrome (CRMS).
Your doctor may give you or your child a diagnosis of CRMS if:
- The amount of salt in the sweat is higher than it is in most people, but not high enough to confirm a diagnosis of CF. This could mean that you or your child is at higher risk of having problems in the airways and sinuses; the intestines and pancreas; or the reproductive tract.
- You or your child has one or two CF gene mutations that could mean that you or your child is at higher risk of having problems in the parts of the body often affected by CF.
What are the symptoms of CRMS?
Although we cannot clearly know the future health of a person with CRMS, he or she is likely to remain healthy. Some people with CRMS have problems in the airways or sinuses; the intestines and pancreas; or the reproductive tract. But we don’t know how many people with CRMS do NOT have these problems.
- You should see your regular doctor and possibly your CF specialist if you or your child has any of these symptoms:
- No weight gain
- Loose stools, very bad gassiness or constipation that last more than 2 weeks
- Very bad stomach aches
- Coughing or wheezing that last more than 2 weeks
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What can we do to keep our child healthy?
If you or your child has CRMS, you should have regular checkups with a CF specialist so that any health changes or problems can be found early and treated quickly.
As is true for everyone, people with CRMS should not be around tobacco smoke. All people 6 months of age and older should receive an influenza vaccine every year in the fall.
*We are not medical professionals, and encourage you to seek the advise of a trained medical professional.