Cystic fibrosis (CF) is caused by a defective gene that affects the cells that produce digestive juices, saliva, mucus and sweat. This defective gene alters the composition of a protein that works to regulate the normal movement of salt (sodium chloride) and water in and out of the cells in the body.
In healthy individuals, the secretions from these cells are watery and slippery and act as effective lubricants keeping the linings of certain organs moist and preventing them from getting infected.
However, in cystic fibrosis the secretions become thick and sticky and instead of acting as lubricants, these accumulated secretions slowly plug up and block passageways, tubes and ducts especially those in the lungs and the pancreas. This blockage can cause severe lung damage and often leads to respiratory failure and thus death.
In addition, by blocking the passageways in the pancreas they inhibit production of pancreatic enzymes that help digest proteins and fats. This prevents the body from being able to absorb vitamins and nutrients that are essential for optimum functioning.
CF also causes the sweat to become very salty as a result of which the body loses abnormally large amounts of salt during perspiration. This upsets the mineral balance in the blood and can cause several associated health problems including dehydration, lowered blood pressured, increased heart rate, weakness and tiredness.
Risk Factors & Odds for Cystic Fibrosis
Family history of the disease is the greatest risk factor for cystic fibrosis. If both parents come from families that have a history of CF then the odds of their child having this condition would be 1 in 4.
The affected gene, which is inherited from the parents, is essentially a recessive gene. This means that only those children who inherit two copies of the gene, one from each parent, will develop the disease. Those children who inherit only one copy will not get the disease but will be carriers. However, the risk with carriers is that there is a chance they could pass the gene on to their own children.
If both parents carry the defective gene, there is a 25% chance that their child will have cystic fibrosis; a 50% chance that their child not develop the condition but will be a carrier of the CF gene and a 25% chance that their child will neither be a carrier nor will they have the disease.
Very often, individuals who are carriers are perfectly healthy and have absolutely no symptoms; sometimes they are not even aware that they carry the cystic fibrosis gene.
Being of Northern European ancestry also carries a greater risk.
Fatty Acids: Are they one Of the Cystic Fibrosis Causes?
Although research has yet to confirm whether or not fatty acids play a role in cystic fibrosis, there are indications that there is a relationship between the two factors. Individuals who are diagnosed with this disease appear to have a deficiency of docosahexaenoic acid while at the same time their levels of another fatty acid, arachidonic acid, were excessively high.
The level of fatty acids in those individuals who carried one cystic fibrosis gene but were healthy and showed no symptoms of the condition were midway between people with CF and those who were neither carriers nor did they have the disease.
Research is still ongoing to find out the exact nature of the relationship between the gene defect that causes cystic fibrosis and fatty acid levels.
By: Didier De Coster
About the Author:
Do you want to know
what causes cystic fibrosis in your child, what the available treatments are and how to deal with it in real life? Go to AboutCysticFibrosis.com for an extensive guide on this genetic disorder.
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