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CFTR related disorder
- Question
- Since some years, my 12 year old son has recurrent lung infection with production of sputum and slow regression of symptoms. He was admitted to hospital and had several courses of IV antibiotics. Now, for the second time, he had a pseudomonas infection.
After many examinations, all known diagnoses have been excluded such as disorder of immunity, primary ciliary dyskinesia and others. Previously he was examined for CF. After extensive tests (for instance NPD = nasal potential difference and ICM = intestinal current measurements) the doctors concluded that he does not have CF. But according to the doctor in our regional hospital, carriers of the CF mutation can have symptoms. Can you, in the case of my son, consider the diagnosis of CFTR related disorder?
- Answer
- Dear questioner,
We understand your worries, but you should know that this platform is not meant to give individual advice to patients. We can however give you general advice about this problem. From your question I understand that your son has serious airway infections and that despite extensive examinations no cause was found. These examinations included diseases other than CF.
Apart from classical CF (problems in several organs and diagnosis of high sweat chloride and 2 mutations on the CFTR gene) there is also disease known as ‘atypical CF’ and ‘CFTR related disorder’. Most of the time only 1 organ is involved. In these patients, it is harder to make the diagnosis because the sweat test result is dubious or even normal and on genetic examination these subjects usually do not have 2 CF causing mutations. More specialised tests (such as NPD or ICM) however do show some abnormality in the CFTR chloride transport. When the latter examinations are also normal it is really difficult to talk about atypical CF or CFTR related disorder. Subjects who just carry 1 CF mutation do not have any disease.
If you want to have further information, we suggest you also read the questions on atypical CF and mutation classes on the Ecorn website.
Best regards,
Prof. M. Proesmans
- 05.08.2011
