Genetic Diseases


Cystic Fibrosis

A few words about Cystic Fibrosis

Cystic Fibrosis is a genetic (inherited) condition that affects the cells and glands that produce bodily fluids such as mucus, saliva, sweat and digestive juices. This condition is a very common fatal hereditary genetic condition, with the average life expectancy of suffers being between 28 to 30 years of age.
In Cystic Fibrosis sufferers a protein called CTFR (or cystic fibrosis transmembrane conductance regulator) does not function properly causing a build up salt in the cells that line the glands of the respiratory passages, sweat glands, pancreas and small intestine. This build up of salt causes the normally thin and slippery secretions of these glands to become thick and sticky. These secretions, which normally act as a lubricant, then build up in the organs – especially the lungs and digestive tract and block passageways in the organs.

Signs and Symptoms of Cystic Fibrosis

The range of symptoms and severity of the symptoms of Cystic Fibrosis sufferers vary from person to person depending on the severity of the disease. The symptoms of a particular suffer can also vary with age. There is a long list of symptoms associated with Cystic Fibrosis with most common symptoms being frequent chest and respiratory infections. Bowel blockages and greasy foul smelling stools are also common, as is poor growth and malnutrition. Salty skin often discovered by parents when kissing their children is also a main symptom. Older children and young adults may also develop a barrel-chested appearance. Cystic Fibrosis sufferers can also develop other medical problems caused by their disease such as nasal polyps, sinusitis, cirrhosis of the liver and intestinal and renal problems to name just a few.

Causes of Cystic Fibrosis

Cystic Fibrosis is a genetic disease caused by a recessive gene inherited by the child that must be received from both parents. If both parents are carriers there is only a 25% chance that the child will have cystic fibrosis, a 50% chance that the child will be a carrier (will carry the gene but not have the disease) and a 25% chance that the child will be completely unaffected – they will not be a carrier or suffer from the disease.

Cystic Fibrosis Treatment

There is no cure for the disease but there are many effective treatments for the symptoms including many drugs to fight infections, thin mucus, and open airways. Bronchial airway drainage by physically clapping or mechanically percussing the chest to help cough up secretions is also a very effective treatment.

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