CFTR-Related Metabolic Syndrome (CRMS)
You or your child has been diagnosed with CFTR-Related Metabolic Syndrome (CRMS). CFTR stands for cystic fibrosis transmembrane conductance regulator. Cystic fibrosis (CF) is a genetic (inherited) disease. CFTR is a protein made by the “CF gene” that acts as a channel to move salt in and out of the cells.
The diagnosis of CRMS means that you or your child does not have CF. However, there are several reasons why it is still important to have regular checkups with a doctor who is a CF specialist.
When a person has a sweat test that gives an intermediate (borderline) result or a genetic test that shows only one CF gene, 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:
Cystic fibrosis (CF) is a genetic (inherited) disease. Genes give our bodies the instructions, or code, for all of our physical characteristics, such as eye color and whether our hair will be curly or straight.
Genes come in pairs. You receive one from your mother and one from your father. A change in the code in a gene is called a mutation. Some mutations don’t cause any problems at all. Some can cause diseases like CF. People with CF have a disease-causing mutation in each of their two CFTR genes — one mutation inherited from their mother and one mutation from their father. Read more about CF Genetics here.
The CFTR gene controls the salt channels in skin. People with CF have mutations that cause their sweat to be very salty. The CF gene also controls the salt channels in the:
People with CF get thick and sticky mucus in these parts of the body. Because of this thick mucus, people with CF get:
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:
If you or your child has CRMS, the best thing to do is to have regular checkups with a CF specialist so that any health changes or problems can be found early and treated quickly.