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Late diagnosis
- Question
- I would like to pose the following question. Our 16 year old son has had sinusitis for years, for which he was operated on twice by an ENT surgeon. He’s also known with bronchitis. Additionally he has regularly tummy-aches and diarrhea. All together, he doesn’t have worrying symptoms, he does daily sport and has a normal development. Because of the persisting ENT problems, the ENT surgeon consulted a pediatrician and a sweat test was done twice, both times with low positive chloride (57?). Additionally blood was taken for DNA and I now worry. Is there a chance that a child with normal development and already 16 years old of age would have CF only now. Thanks for your answer.
- Answer
- Dear questioner,
We understand your concern, but are convinced that your doctor took the right decision to further investigate for cystic fibrosis. There are mild and / or limited forms of the disease that can manifest only later in life. We’ll try to explain what these mild forms consist of.
Cystic fibrosis is a disease that can manifest in different ways, although in most patients it is a severe disease. Since the discovery of the CFTR-gene, we know that apart from the classical cystic fibrosis disease (with lung disease, digestive disease and a clearly abnormal sweat test, together with infertility) there are also patients with two mutations in the CFTR gene, but a much milder disease or a disease limited to 1 organ (for example only male infertility). In case of mild CF, there is even discussion within physicians if the term CF is appropriate. Indeed, in mild or in atypical forms, there is no proof that the disease is life-shortening. Other names are being used in those cases: CFTR-related disease or atypical cystic fibrosis. On the other hand, we know that persons with the atypical CF can develop specific diseases during their lifetime. In order to prevent an ‘Odyssey’ to have an explanation for their symptoms, it’s an advantage to clarify the disease early in the course. The main question is: “Do symptoms relate to a milder or limited form of cystic fibrosis?" In that case, an appropriated treatment can be started.
With kind regards
Professor K. De Boeck.
- 23.03.2010
