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FEV1 in mild forms of cystic fibrosis
- Question
- Hello,
Are FEV1 of 100 % after the age of 30, history of frequent bronchitis, immunodeficiency in childhood, rhinitis and chronic sinusitis, and unexplained abdominal pain consistent with a mild form of cystic fibrosis?
- Answer
- Hello
A mild form of cystic fibrosis (CF) is possible in the situation you describe in patients with at least one "moderate" mutation on the CFTR gene. However, it should be clear that these symptoms are not related to any other cause. For example, immune disorders can cause rhinitis and sinusitis, as well as bronchiectasis.
If you think about CF, your doctor should address you to a CF center where diagnostic tests will be carried out. A sweat test will be done: the sweat chloride concentration is high and a value of 60 mmol / l or more usually confirms the diagnosis of CF. A blood test for analysis of the CFTR gene will also be performed: the identification of two mutations (or defects) known as being associated with CF on the CFTR gene can confirm the diagnosis.
In some cases, the diagnosis is difficult because sweat chloride is higher than normal but below values you find in classical CF and there is only a single mutation in the CFTR gene. Tests such as the measurement of nasal potential difference (which measures the activity of the CFTR protein) can help distinguish patients with CF.
Reference to the European consensus on providing analysis of CFTR gene mutations in clinical practice: Castellani C et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008, 7:179-196.
Best regards,
Dr. Dominique Hubert - 19.06.2013
