Please note: While some information will still be current in a year, other information may already be out of date in three months time. If you are in any doubt, please feel free to ask.
Normal lifespan
- Question
- My baby has deltaF508 and R1070W and is almost healthy (details are in a previous question).
I found a study that shows the combination of the two mutations can lead to a normal life span. see below
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2785447/
What kind of treatment and further investigations are recommended in this case?
I found another study that I could hardly understand, see below.
http://www.jbc.org/content/285/46/35825.full
Yet my little understanding is that there were done additional genetic tests that can say how much is affected the patient. Where can I do such tests? Or how should I interprete the above study?
Thank you - Answer
- Thank you for your questions.
The studies to date show that individuals with this genotype (R1070W and delta F508) would have mild disease and a good prognosis. The current treatments are minimal at present and routine follow up care is all that is required at this stage.
With regards to your second question regarding www.jbc.org/content/285/46/35825.full
, could I refer you to an excellent answer by Prof. Dr. Liviu Pop who summarises this well, and of which I fully agree with. This is the link to the answer:
ecorn-cf.eu/index.php?id=65&tx_expertadvice_pi1%5Bshowitem%5D=1635&tx_expertadvice_pi1%5Bsearch%5D=
Best wishes,
Dr Stephen Rowan
Belfast - 24.01.2012
- The answer is edited by: Prof Stuart Elborn