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Carrier or patient?

Ερώτηση
My son is 10 months old, weighs 8 kg and is 75 cm tall. He suffered from dehydration last summer and we were hospitilised. We discovered that he carries the del508 mutation. We did two sweat tests at Hippokation Hospital and both were negative (values 22 and 23). We were tested for 85% of CF mutations and another mutation was traced. We were asked to have an X-ray and an ultrasound. Is it possible for my son to suffer from CF, since both sweat tests were negative, or is he simply a carrier? His stool is well formed with a normal smell.
Απάντηση
Dear friend,
You mention that your son was admitted to hospital last summer due to dehydration. You did 2 sweat tests with normal results. I would like more information about the lab results of the tests you did about the dehydration. You did a genetic testing, from which initially you discovered that your son carries the DF508 mutation. Later on another mutation was traced as well.
There are CF mutations that can present with borderline, or normal values of the sweat test, which present also pancreatic sufficiency, therefore stool will be normal, without being fatty and smelly.
I would like to know which is the second mutation your son carries, and if your son presented hypochloremic alkalosis.
Yours friendly,
Dr. Stavros Doudounakis
12.12.2017