Cystic Fibrosis is a Real Downer

Today I was assisting in an x-ray on a young lady ( I think she was 26) who had a severe case of Cystic Fibrosis. I looked at the x-ray and I saw how crummy the lungs looked and it sparked my interest (if anyone is interested in seeing what a CF chest x-ray looks like check this page out, MyPACS.net). In any case, I wondered what exactly CF was, I mean I see it on a daily basis at the hospital I work at and I never once realized how common it was until today. So I did a bit of digging and this is what I found:

Cystic Fibrosis is a genetic defect in which the gene that is responsible for regulating chloride ion amounts inside the cell is defected.  The gene thereby disrupts the CF protein called CFTR or Cystic Fibrosis Transmembrane Conductance Regulator, which in turn disrupts the regulation of Chloride ion that is a major component in maintaining the balance of salt and water inside and outside of the cell. This causes an increased production of thicker mucus along the lining of the pancreas and lungs. The mucus in the lungs causes a whole slue of respiratory distress and the pancreas is disrupted in that it cannot produce the enzymes required for the absorption of fats and proteins causing malnutrition. So as you can see it is a disease that can cause major disorders in patients affected, which is the main reason that most people diagnosed with it live on average into their 30's.

The disease is the most common life limiting affecting white (caucasian) adults and adolescence. It occurs 1 in every 3200-3300 newborns in the US and the numbers are growing.  One reason that researchers believe that it is persistent in white patients is because the gene defect may be a protective defect. Now why would a disease be a protective disease? The answer lies in another disease: Cholera. It appears that affected individuals with cystic fibrosis will not be affected by the cholera toxin. Because of this inherent advantage (called a heterozygous advantage) the disease, cystic fibrosis, was able to survive in times of cholera outbreaks across central europe. It was able to pass from generation to generation on that specific gene mutation.  This same heterozygous advantage was presented as a probable explanation for the persistence of sickle cell anemia in response to malaria outbreaks in Africa.

So there it is, a bit of information of CF that I could dig up. Also here is an article on "sciencedaily.com" about the research being done on Cystic Fibrosis using PIGS! I will continue to post about other cases that I see and I hope to spark interests as I go.