E.R.R

E.R.R

Saturday, April 20, 2013

How does one get CYSTIC FIBROSIS?



How common is cystic fibrosis?

Cystic fibrosis is a common genetic disease within the Caucasian (white) population in the United States. The disease occurs in 1 in 2,500 Caucasian newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 20,000 African Americans and 1 in 31,000 Asian Americans.
According to the Cystic Fibrosis Foundation, about 30,000 Americans, 20,000 Europeans, and 3000 Canadians have CF. In the United States, about 12 million people are carriers, and every year 2500 babies are born with CF.

What genes are related to cystic fibrosis?

Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. Chloride also has important functions in cells; for example, the flow of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus.
Mutations in the CFTR gene disrupt the function of the chloride channels, preventing them from regulating the flow of chloride ions and water across cell membranes. As a result, cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is unusually thick and sticky. This mucus clogs the airways and various ducts, causing the characteristic signs and symptoms of cystic fibrosis.
Other genetic and environmental factors likely influence the severity of the condition. For example, mutations in genes other than CFTR might help explain why some people with cystic fibrosis are more severely affected than others. Most of these genetic changes have not been identified, however.
Read more about the CFTR gene.

How do people inherit cystic fibrosis?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of cystic fibrosis?

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