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Negative CFTR gene
- Question
- Dear,
If I have a negative CFTR gene sequencing and a negative sweat test, am I negative for Cystic Fibrosis? Although the symptoms (constipation, polyps in the nose, transparent and thick mucus in the nose?)
My daughters have also symptoms (one with dwarfism and constipation, the second with a negative sweat test, rectal prolapse and constipation).
Thank you,
- Answer
- Dear,
Of course we cannot give specific advice about you, nor your children.
However, in general, we can state that the diagnosis of cystic fibrosis is unlikely (but not impossible) if no mutations are found after CFTR gene sequencing and if the sweat test is negative (sweat chloride lower than 60 mmol/L; more even so when the sweat chloride is lower than 30 mmol/L).
If such individuals do present with typical symptoms of cystic fibrosis, and some other diagnoses have been excluded, more specialized diagnostic tests can be useful e.g. Nasal potential measurement and/or intestinal current measurement. But of course the doctor who follows the patient must decide whether those tests are indicated.
Sincerely,
Prof. Dr. K. De Boeck
- 26.10.2015
