Cystic fibrosis is an autosomal recessive genetic disorder that is located on the 7th chromosome. Unfortunately, it claims the lives of many children and adults.
This image of lung cells shows the purpose of the cystic fibrosis protein. Its job is to filter chloride ions in and out of the cell, balancing salt and water content within the cell and in the blood stream.
When the Cystic Fibrosis Transmembrane Regulator gene doesn't function properly, a smaller amount of chloride ions is allowed to permeate the cell membrane and balance out water and salt within the cell. When this happens, the salt content greatly exceeds the water content within the cell, leading to the buildup of mucus.
The symptoms of CF include very salty-tasting skin, a persistent cough, and excessive appetite but poor weight gain. Breathing requires more energy with CF and the mucus produced can trap bacteria and lead to infections. Pulmonary disease is the major cause of mortality with CF.
Many people are diagnosed with CF through what is called the "sweat test." In this test, the salt level of a person's sweat is measured--a high level of salt indicates CF. Gene therapy research is providing good signs for the future of CF because scientists have found a way to target the source of the disorder instead of the symptoms. The most effective treatments at the moment are: keeping the airways as clear as possible, treating lung infections, supporting optimal nutritional status through the replacement of pancreatic enzymes and fat-soluble vitamins, and in some cases, lung transplants.
The Boomer Esiason Foundation was founded by the former NFL player after his son was born with CF. It gives support to parents and children that are dealing with CF and information on how to cope with it. The CF Roundtable is a forum in which people with the disorder can communicate and discuss issues with each other.
An interesting fact about CF is that 1 in 3200 Caucasian newborns is born with the disorder. One in 31 Americans is a symptomless carrier of the disease. For a child to have CF, it must inherit 2 defective CF genes from its parents. As shown, two carrier parents have a 25% chance of having a child with CF, a 50% chance of having a carrier child and a 25% chance of having an unaffected child.
Cystic fibrosis causes the formation of scar tissue and cysts on the lungs, which is the origin of the name. As illustrated in this diagram, mucus builds up in the lungs, blocking the airflow and causing infection.
This concludes my presentation on cystic fibrosis. Does anyone have any questions?
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