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F508del/Normal Genotype and ENT symptoms
- Question
- Hello,
as I am heterozygous F508del / normal and had a sweat test of 59 in 2004 I was told that I am not sick but I have a treatment for nose and Eustachian tube problems that no longer works and causes a cholesteatoma. I am looking for a clear diagnosis. I live in the Var. Who to see? - Answer
- Hello,
Ear Nose Throat problems are very common and may have various causes.
However the combination of these symptoms and an almost positive sweat test (59 mmol/l for a positivity threshold of 60 mmol / l), raises the question of an atypical form of cystic fibrosis. It would be useful to repeat the sweat test and a blood withdrawal for seeking a second mutation in the CFTR gene.
If you live in the Var, the 2 closest CF Centers are:
- Giens CF Center, Renée Sabran Hospital, Boulevard Edouard Herriot, 83406 Giens Cedex Tel: 04.94.38.17.40
- Nice CF Center, Pasteur Hal, 30 Av de la Voie Romaine, 06002 Nice: 04.92.03.77.67
Do not hesitate to contact one of them: they will be able to advise you.
Sincerely.
Gilles RAULT, MD, Roscoff CF Center
- 08.03.2015
