Cystic Fibrosis

Cystic Fibrosis

Cystic fibrosis is a serious disease that occurs in 1 in 2,500 to 3,500 Caucasian newborns. Many people may not know that this disease is a genetic disease that can be passed on to babies from their parents. Often, the first sign of cystic fibrosis is a salty taste on the skin. According to a seventeenth-century English proverb, "A child that is salty to the taste will die shortly after birth".

In a person without cystic fibrosis, the cells that produce mucus, sweat, and digestive juices secrete fluids that are thin and slippery. A person with cystic fibrosis has cells that secrete thick and sticky fluids. This occurs because of a defective gene. The thick and sticky mucus causes ducts and passageways to become clogged. The clogged airways in the lungs can lead to problems with breathing and bacterial infections in the lungs. The bacterial infections cause chronic coughing, wheezing, and inflammation. After a period of time, the infections and the mucus buildup result in permanent damage to the lungs. The permanent damage to the lungs is characterized by scar tissue (fibrosis) and cysts. Often, people with cystic fibrosis have digestive problems. These problems usually result from a buildup of thick and sticky mucus in the pancreas. The pancreas produces insulin. The thick and sticky mucus inhibits the production of insulin and prevents certain digestives enzymes from reaching the intestines to help with digestion. Cystic fibrosis is very deadly in children. Both adult women and men may experience complications with reproduction and should be careful due to the fact that they could pass the disease on to their offspring.

Cystic fibrosis not only has an effect on the respiratory and digestive systems, but also the integumentary, skeletal, cardiovascular, and immune system. Patients with cystic fibrosis secrete 2 to 5 times the normal amount of salt in their sweat. This can cause rapid dehydration in hot conditions. Since cystic fibrosis patients can't fully absorb vitamin D, low bone density is very common. Lung disease can eventually cause the right ventricle of the heart to fail since it has to pump so much blood to the damaged lungs. Innate immunity decreases in cystic fibrosis patients because the thick mucus in the respiratory tract damages the cilia movement. The cilia movement is very important in preventing microorganisms from entering the body.

Cystic fibrosis is inherited by people in an autosomal recessive pattern. This means that both copies of the gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene. However, they don't usually show symptoms or signs of the disease. The mutated gene that is responsible for cystic fibrosis is called the CFTR gene. This gene is located in region q31.2 on the q portion of human chromosome 7.