No. A small segment of patients affected by cystic fibrosis does not show typical symptoms until teenage and apparently has very mild disease. This depends upon the mutation involving cftr gene (homozygous vs heretozygous so on).
Yes diagnosed then. CF is a genetic disorder which can be detected at birth. It is possible to present later in life with symptoms suggestive of cf. A CF sweat test should be performed if your doctor suspects cf.
Genetic disease. CF is a genetic disease so you have it at birth, but it is possible for the diagnosis to be missed until later in life.
Yes. A small segment of patients affected by cystic fibrosis does not show typical symptoms until teenage and apparently has very mild disease. This depends upon the mutation involving cftr gene (homozygous vs heretozygous so on).
Confusing question. An estimated 1/20 people carry one mutation of the CF gene and if they have children with another carrier they have a chance every time to produce a CF affected baby. That CF baby has diminished fertility but may have kids and only if they marry a carrier will their kids have risk, as high as 50%.
Perhaps... The best chance for a cure for cystic fibrosis lies in gene therapy. Clinical trials are currently underway in a number of countries to try to do this. Many of these trials fail, but they help design future trials. You never know when success will happen. Hopefully it will be soon. For a recent article on a large trial in the uk, see: http://www. Ox.Ac. Uk/media/news_stories/2012/120316.Html.
Could use your help docs! A friend has cystic fibrosis and smokes weed because she says it helps. Is that true?
Yes and no. If she believes in the material and says it helps her, it probably does. It may be only a comfort measure as the irritation of the smoke will impair lung function over time. We can get between 10-30 % success using sugar pills during population studies if they believe in the treatment.
Could any expert explain the cell signaling pathway involved in cystic fibrosis, what goes wrong, and the right way for it to work? Thanks!
Start with this link. Http://www. Sciencedaily. Com/releases/2010/02/100214143133.htm? Utm_source=feedburner&utm_medium=feed&utm_campaign=Feed%3A+sciencedaily%2Fhealth_medicine%2Fcystic_fibrosis+%28ScienceDaily%3A+Health+%26+Medicine+News+--+Cystic+Fibrosis%29.
Yes and No. Patients are born with cystic fibrosis. However it can take many years for the disease to become apparent in some patients. Thus, it is possible to be diagnosed with CF later in life but not to develop CF later in life.
Detection. It is possible to have a mild variant of CF that is detected later in life; 49 would likely be the oldest so declared. The gene that codes for the sodium-chloride transporter can be mutated in various ways that cause cf. If you do have cf, the disease was present all your life but mild enough that you did not notice until later on.
Organ Donation. Organ donation is possible and should be discussed with Lifelink. Many people do not realize that other useful tissues like heart valves, tendons, corneas are part of the donation process as well and can help recipients. In CF lungs heart, pancreas and liver are likely not able to be shared. See Lifelink http://www. Lifelinkfound. Org/index. Cfm.
Yes. Yes. Cystic fibrosis can be diagnosed that early and earlier.
Yes. All 50 states now have newborn screening for cystic fibrosis. Newborn screening should identify over 95% of infants with cystic fibrosis. An abnormal sweat test or genetic testing showing 2 mutations are the most common tests to confirm the diagnosis of cf. The earlier comprehensive care is started at a CF center (www. Cff. Org) the better the outcome.
Yes. CF is an inherited disorder that requires 2 mutations (1 from mother & 1 from father) to lead to the clinical disease. If you have it, you were born with it. Many states in the U.S. Perform newborn screening that can pick the disease up at birth, but it can go undiagnosed for years in some cases.