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Cystic Fibrosis Explained

What is Cystic Fibrosis?

From About.com

Updated: December 20, 2005

About.com Health's Disease and Condition content is reviewed by Sanja Jelic, MD

Cystic fibrosis is an autosomal recessive genetic disease in which the lung and pancreas produce excessive amounts of thick, sticky mucus. This mucus clogs the lungs and pancreas, impairing breathing and digestion. (See: The Importance of Physiotherapy in Cystic Fibrosis)

Cystic Fibrosis Statistics

Cystic fibrosis affects about 30,000 people in the U.S. and about 70,000 worldwide. It is the number one genetic killer of children and young adults in the U.S., occurring in about one in 3,000 births. More than 12 million people are carriers of cystic fibrosis. (See: Carrier Screening for Cystic Fibrosis) Most cases of cystic fibrosis are diagnosed by the age of 17. (See: Sweat Testing for Cystic Fibrosis)

The Effects of Cystic Fibrosis

People with cystic fibrosis have a mutated gene that causes the over-production of a very thick mucus. This thick mucus attracts and traps bacteria and other inhaled debris, causing life threatening respiratory infections. In the pancreas, the thick mucus interferes with food absorption, causing weight loss. (See: Supplementing Your Diet With Tubefeeding)

How Cystic Fibrosis is Contracted

Cystic fibrosis is a recessive disorder, meaning it is inherited when two copies of the mutated gene, one from each parent, are passed on to the child. Cystic fibrosis can only be passed from parent to child - it is not contagious.

How Cystic Fibrosis Develops

Cystic fibrosis is caused by a mutation in a single gene on chromosome 7. The gene contains instructions for building a protein called the cystic fibrosis transmembrane conductance regulator (CFTR). When a mutation of the gene occurs, the instructions produce a CFTR that sits in the membrane of certain cells and controls the passage of chloride ions in and out of the cell.

Related: Signs and Symptoms of Cystic Fibrosis

Sources: yourgenesyourhealth.org, mamashealth.com and medgen.ubc.ca
Updated: 12/19/05

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