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Very rare mutation

Question
Hello,

I appeal to you because I can not find on the internet the answer to my question: I was diagnosed with CF at the age of 5 months with Pseudomonas aeruginosa colonization from the beginning.
I wanted to know if it was serious knowing that today I am 19 years old? And my mutation is the R569 in the homozygous state, I wish to know much more about my mutation since I have not found anything on the internet?

thank you
Answer
Hello,

Concerning the effect on the prognosis of bronchial colonization with Pseudomonas aeruginosa, when it becomes chronic it is deemed to present a risk of more rapid degradation of lung function. It is important to prevent the infection to become chronic, therefore an appropriate and early antibiotic treatment is recommended as soon as the first colonization of the lungs by this bacteria is detected. This correct treatment allows most often an eradication of the organism more or less sustainable. In case the colonization becomes chronic, an anti-pseudomonas treatment composed with aerosols of long-term antibiotics is recommended as it allows in most cases to slow down the progression. Each case is particular, however, I suggest you see your CF multidisciplinary team that is best suited to assess your condition and offer the most appropriate treatment.

I also suggest you check with your CF centre the designation of mutations that have been identified to you: the mutation R569 which you mention is in fact not known to the international consortium that maintains information about CFTR mutations (www.genet.sickkids.on.ca/). This site reported four mutations at position 569 (Y569H, Y569D, and Y569C Y569X) but they all relate to the amino acid tyrosine (Y) and non-Arginine (R).
Wish to have answered your questions.
Dr. Gilles Rault
23.07.2012