Cystic Fibrosis

Cystic fibrosis is a very common hereditary disease that affects the whole body, causing progressive disability and early death. It is one of the most common life shortening inherited diseases.

There is no real cure for cystic fibrosis, but there are many treatments available that are able to slow the progression of the disease.

Cystic Fibrosis Pathophysiology

Cystic fibrosis occurs as a result of a mutation in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. Under normal conditions, the protein created by this gene sticks to the outer cells in the sweat glands, pancreas, lungs and other organs. This protein can span the cellular membrane and connect the cytoplasm (inner part) of the cell with the outside fluid. Chloride is then moved from the outside to the inside of the cell.

When the produced protein does not function properly, chloride is not able to get into the cell. Positively charged ions are also unable to travel into the cell, due to the fact that chloride (which is negatively charged) attracts them. The most common of these ions is Sodium, which in combination with the chloride creates the salt that patients with cystic fibrosis eliminate in high amounts in their sweat.

It is believed that the increased salt production leads to abnormally high water reabsorption, which creates thick and dry mucus and secretions. This leads to the blockage of the narrow passages of affected organs with those thickened secretions, causing remodeling and infection in the lung, as well as pancreas and intestine blockages and their consequent malfunction.

Symptoms Of Cystic Fibrosis

Patients with cystic fibrosis may show a wide variety of different symptoms, including lung infections, sinus infections, diarrhea, poor growth, and also infertility or fertility complications (resulting from the effects of cystic fibrosis on several parts of the body).

Cystic fibrosis can be diagnosed prior to birth by genetic testing, by newborn screening or in early childhood by a cystic fibrosis sweat test (the most commonly used diagnosis tool, consisting in the analysis of a sweat sample, in search for abnormal concentrations of sodium and chloride).

Treatment Of Cystic Fibrosis

As cystic fibrosis cannot be cured, the treatments focus on slowing the progression of the disease and curing the symptoms when possible.

For lung and other infections, antibiotics may be administered to the patient. Vitamins and enzymes can help the patient deal with liver and digestive failures, and when the pancreas malfunctions, insulin may be prescribed.

On cases where lung failure is irreversible, a transplant may be needed.

Cystic Fibrosis Life Expectancy

Some years ago, cystic fibrosis was known to cause death within the first decade of life, with very few people surviving until their twenties.

Today, cystic fibrosis life expectancy has increased to the point where the average age people live to is in their upper thirties, and cases where adults live longer are not uncommon. There are some registered cases in which the patients lived to their seventies.

More and more everyday, doctors and experts are making it possible to a person with cystic fibrosis to have a not-so-abnormal life.

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