Questions & Answers

Q: My daughter was diagnosed with a 5t polymorphism found opposite a severe mutation. She is 3 months old with no symptoms and as of now is deemed pancreatic sufficient. What may her symptoms be? I was told she may be asymptomatic or acquire asthma or sinuses. What is the worst case scenario?
Jeff S., NY, USA

A: This combination was first noted in infertile men with little or no other CF symptoms and  it was thought that it was a very mild mutation that does not cause disease other than male infertility. Subsequent studies have shown that the effect of this combination depends on other genetic background and it cannot be promised that the child will be asymptomatic. A paper in 2000 from the University of North Carolina reports two women with 5T/delta F 508 who had CF like lung disease.

Thus, this little girl may have no disease, or she may develop lung disease that is later in onset and milder in character than the average CF patient, or she may develop asthma, since these genes appear to confer added risk for asthma. It is likely that she will be pancreatic sufficient. If the family wishes a better definition of her disease, they might consider simple measures like a sweat test - high values for sweat Cl would indicate more severe malfunction of CFTR - or more complex studies (maybe when she gets older) like a nasal potential difference, which would assess CFTR function more directly in the airways. It would also be possible to find a genetics lab to do more detailed haplotype analysis - but one would still be left with the question of whether genes other than CFTR
would influence the potential for disease. We are now aware that there are other genes that influence the severity of CF, and if the little girl has the "good genes" she may be protected.

It would probably be useful to keep an eye out for respiratory infections and to determine whether she is infected with Staph or Pseudomonas if she does become infected (children have many infections, and usually cultures are not done - in her case, it might be prudent to do them) and simply be vigilant for early indicators of lung infection and disease.

Odds are, she will be fine - but unfortunately we cannot promise that. I think connecting this family with a good geneticist is a good suggestion, and also a CF Center that might have the capacity for testing that could either raise the level of vigilance or indicate that there is very little amiss - we hope, the latter.


Pamela B Davis, M.D., Ph.D.
Arline H. and Curtis L. Garvin, M.D., Research Professor
Professor of Pediatrics, Physiology & Biophysics, and Molecular Biology & Microbiology, Vice Dean for Research, Case Western Reserve University
Department of Pediatrics
Biomedical Research Building 8th floor
CWRU School of Medicine

Editor's Note: A list of web links for lung disease associated with the IVS8 5T allele of the CFTR gene was supplied by Dr. Davis. Those interested in obtaining this should email editor@cfww.org.

Q: I was intrigued by Peter Bye’s article on Hypertonic Saline research (Issue 7, Vol.1). Have you heard from other individuals who utilize this treatment?

Richard F., Vancouver, B.C., Canada

A: It's great that more research is being done into this simple and effective treatment.
I am staying healthy thanks to nebulised hypertonic saline and am glad that it's helping others. I have had a number of emails from people who have started using the treatment and found it beneficial.
I hope one of the drug companies will soon bring out a 10ml plastic vial of 7% hypertonic saline to make it easier to use.
I have added a saline nasal wash to my daily regimen and find it keeps my sinuses clear. I used to get chronic sinusitis and a lot of inflammation. The preparation called "FESS Sinu-Cleanse" is made by Paedpharm (www.paedpharm.com.au) and contains hypertonic saline, sodium bicarbonate and xylitol. Xylitol is a natural sugar made from Beech trees and found in many fruits such as raspberries and plums. Apparently the xylitol helps stop bacteria clinging to the mucus membranes by making the membranes more slippery.
I wonder if this component could be added to the nebulised hypertonic?

Kind Regards,
Lucy Boden

Editor’s Note: In Edition 5, Volume 2, Scientist and CF patient Lucy Boden described her experience with hypertonic Saline. To read this article go to: http://www.cfww.org/pub/english/
For a list of references for Lucy’s response, contact the editor at editor @ cfww.org

Q: My son is 21 years old and has CF. He was recently arrested for a DUI (driving under the influence of alcohol) in Colorado with a breathalyzer Blood Alcohol Level of .19 - fairly high. The police were surprised it was that high as  were people who talked to him that night. This is my son's first driving offense of any kind and he is not a problem drinker. Is there any research to suggest that people with CF metabolize alcohol differently or that CF has an impact on breathalyzer results?

Our hope is not to find a loop hole to get my son out of trouble but to 1) learn more about how CF may play a role so that he can make better choices in the
future and 2) to learn if CF may have played a role and speak with the DA about a reduction in the charges to DWI which is more compatible with my son's behavior that night and the amount of beer he drank (6 beers in 3 hours, he weighs 170 lbs).

Vicki P., Colorado, USA

A: This is a difficult one to answer. I am not aware that there is any evidence that people with CF metabolise alcohol any differently from those who do not. I have asked my adult colleagues for their opinion and they agree that there is no evidence. It is impossible for me to comment on this case, especially as the strength of the alcohol is not stated. Also the metabolism of alcohol is affected by so many factors.

Sue Wolfe
Chief Paediatric Dietitian, Regional Cystic Fibrosis Unit, St James's & Seacroft University Hospitals NHS Trust, Leeds, UK.
Chair, International CF Nutrition Group