Guide To Common Genetic Conditions

Cystic Fibrosis

Cystic fibrosis is a potentially fatal genetic disease. It can affect multiple organs and areas of the body. Cystic fibrosis is caused by mutations in a gene known as the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Defects in this gene affect the production of a protein that regulates many fluid substances. As a result, the body sometimes produces too much mucus, saliva, sweat, and other fluids. This can lead to problems with breathing because the lungs become congested with mucus. Other symptoms include sinus problems, abnormal growth, and impaired development of body parts. Men with this condition experience infertility.

Many of the health problems caused by this disorder are secondary to the genetic defect. For example, dehydration from excessive sweating can cause kidney failure or other problems within the organs. Females with this condition tend to have a higher mortality rate for unknown reasons. Cystic fibrosis patients are at increased risk for other diseases, such as diabetes and bone disorders.

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Alzheimer's Disease

Alzheimer's disease is the genetic condition that leads to the most deaths worldwide. Children often inherit it from their parents. However, it is not always hereditary. Environmental causes and brain trauma are believed to play a role in some individuals with this disorder. In inherited cases, mutations in any one of three different genes are believed to be the cause. This condition can occur at any age. However, it typically starts between thirty to sixty years old.

Memory problems are often one of the first symptoms. As areas of the brain degenerate and a patient's condition worsens, movement, speech, bodily functions, and cognitive processes can all be affected. At its worst, this condition can result in death. Two causes of death in Alzheimer's disease patients are aspiration pneumonia and pressure sores. Aspiration pneumonia can occur when patients who have trouble swallowing food inhale it instead, which causes pneumonia in the lungs. Pressure sores are skin sores caused by being immobile in bed too long. This sometimes leads to different types of infections, such as sepsis.

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