Cystic fibrosis is a serious genetic condition, predominantly affecting children. Namely, this condition makes the sufferers prone to infections by affecting both their lungs and their digestive systems. A couple of decades ago, this health issue was considered non-treatable. Today, however, through advanced knowledge of genetics and new, excellent medications, people suffering from cystic fibrosis can look forward to a successful treatment, even though a cure for this condition is yet to be discovered.
Facts about Cystic Fibrosis
More than 30,000 children and young adults suffer from this condition in the US. Basically, in cystic fibrosis the epithelial cells, which are found inside the lungs, liver and pancreas produce a defective form of the protein CFTR. So, when the faulty gene is inherited and found in one's organism, it stimulates the production of a defected form of protein which gets created in all of the above mentioned areas. With the presence of this faulty protein, the epithelial cells have problems regulating the passage of chloride through cell membranes.
Subsequently, the balance between our salt and water levels is disrupted and the mucus inside our organs becomes too hard and sticky. Normally, the mucus is in charge of trapping bacteria and other germs expelled from the lungs, leading these out. However, when the mucus is hard and sticky, it entraps these microorganism, leading to formation of infections.
The same happens in the pancreas, where enzymes are not allowed to contribute to food digestion processes. Subsequently, we are not absorbing nutrients properly and we develop weight issues, even when having a very strict and controlled diet.
Genetic Factors Related to Cystic Fibrosis
The CF gene is found on the 7th chromosome. Both parents need to carry this gene in order for the child to develop cystic fibrosis. If only one parent carries the gene, the child will be the carrier as well. Currently, about 12 million of Americans carry the CF gene. Furthermore, Caucasians are considered to be the risk group while Asians are almost unaffected by these faulty genes.
Cystic Fibrosis and Children
About 75% of CF patients are children. The signs of this condition appear almost at birth. One of the first signs, is the thick substance expelled through the rectum, sometimes blocking the intestines completely. Low birth weight is yet another sign of this condition, along with vitamin deficiencies and a salty taste which the parents can feel once they kiss the skin of their baby. Asthma symptoms may appear due to CF too. In fact, many complications happen due to lung problems triggered by cystic fibrosis.
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