Topics

F508del heterozygoty : consequences?
Hello, I am a 32 year old male in pretty good health, out of curiosity and I did a genetic test through a U.S. site. Among the many results I found to be heterozygous for deltaF508 carrier (30 other mutations investigated, all negative) I read many articles and abstracts of publications, and it made me make a connection with my symptoms and which remained unexplained: - Frequent cough just after the meal time since sometimes - Seasonal bronchitis that required tough antibiotics (I am non-smoker) - And especially has always been constant presence of mucus in the back of the nose / throat and constant need to sniff / swallow / clear my throat, to the chagrin of those around me. Note that my father had the same respiratory symptoms and, moreover, had some problems before having children (made ​​of a varicocele) I am concerned primarily with my fertility. I also had a varicocele. I think a lot of figures on the frequency of deltaF508 in people with CABVD, but never the reverse. I read that "5T allele" is found frequently in these cases, but does not know where to find it in my results (I can search by number of SNPs) I also wonder if there is no preventive things to ENT and Respiratory side, because I feel that my bronchitis are more severe than some years ago. And monitor my pancreas. Who consult for a first time ? A GP (I fear it does not take very seriously my test or not at the forefront of the subject)? A pulmonologist and a urologist separately? Or direct a specialized muco would have all these skills? NB: I live in England but often returns to France. Thank you!
13.12.2011
sticky secretions and salty sweat in CF
why the secretions are permanently sticky in the nose and the skin is salty
07.12.2011
Studies: nurse and CF
What are the areas of health where a nurse with CF can work? Such as intensive care units
07.12.2011
Cystic fibrosis in Caucasian populations
A question is nagging me. Why does cystic fibrosis affect mainly Caucasian populations? Indeed the rate of people affected by the disease is far more important for Caucasians than, for example, Africans. Thank you in advance.
05.12.2011
Vertex-770 potentiator
Dear expert team, my daughters genotype is DF508 and R347P, now that the drug for G551D is going forth for approval because of its effects on the gene. Do you have any further data to support that this drug would also be effective on other class IV types like R347P as I know it has some effect on gene type R117H. Any information on this would be greatly received. Many thanks C.
05.12.2011
always sick daughter
My daughter is since birth a sweet ‘mommie’s’ child. She was breast fed for one year (with some food supplements) but after that, started to eat less and less and be more and more tired and listless. At the age of 17 months, she even got dehydrated and needed to be admitted to the hospital. The doctors did one test after the other until a sweet test revealed an elevated salt content. The repeat test was even worse. It think the first one was 33 and the next one was 40. They took blood for DNA and 2 weeks later they stated: ‘We did the test for the most common mutations and since she doesn’t have any of these, we think it is psychological. ‘This felt like getting a slap in my face. They never said anything anymore about her runny nose and ears. Since half a year I am very worried. My daughter looks healthy but she is very small: she is almost 2 years old and only weighs 8kg. In the mean time she had surgery on her ears, grummets were inserted and here adenoids where removed. She is not getting better, she still has very little appetite. Don’t you think that she should be checked for another type of CF?
05.12.2011
healthy carrier
Hello, I am a healthy carrier of delta F508, and I wanted to know if there was no risk of having a child with cystic fibrosis knowing that my husband does not carry the gene! waiting for a response Cordially.
05.12.2011
City or country?
Due to financial difficulties we may have to move to the country. We live in a provincial city in a flat. At the village there is a garden, flowers and animals. What should I watch out for? What prerequisites are necessary? What must the child avoid? Can this change bring harm to our child?
05.12.2011
Coughing at night
I asked a question but forgot to mention that my husband has CF. Since a few months he coughs almost every night as soon as he goes to bed, the coughing can last hours, is very energy consuming and results in not enough sleep. Tiotropium bromide inhalation seemed to work for a while but not anymore. Do you have a suggestion. My husband is 56 years old. During the day all goes reasonibly welle, considering the situation.
01.12.2011
underweight
My daughter is 6 years old and her weight is 13,5 kg/100 cm. Where can I find a good doctor?
01.12.2011
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