What causes cystic fibrosis?

Cystic fibrosisis a metabolic disorder that’s passed on from parent to child. It’s seen mostly in Caucasians of Central and Northern European descent, but affects every race. Being a carrier of the gene that can cause CF does not mean that it will occur.

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Cystic fibrosis occurs when a child inherits a changed (mutated) cystic fibrosis transmembrane gene from both parents. The gene codes for a protein called the cystic fibrosis transmembrane regulator (CFTR). The changed gene causes problems with the way salt and water move in and out of the cells that make mucus, causing the mucus to be thick and sticky. This kind of mucus makes it hard for the body to keep organs and lungs clean and healthy.

If a child inherits the changed CFTR gene from only one parent, the child will not have cystic fibrosis but may be a carrier. This means the child could pass the changed gene on to his or her children.

Many people do not know they have the changed gene. If you are the parent of a child who has cystic fibrosis, it is important to remember that nothing you did caused the disease.

Mutated gene: Patients with cystic fibrosis (CF) inherit two copies of a mutated or defective gene from their parents. This mutated gene changes a protein in the body that regulates the movement of salt in and out of cells. As a result, patients develop thick mucus secretions in the respiratory, digestive, and reproductive tracts. It also leads to increase salt in the patient's sweat.

Autosomal recessive inheritance: This mutated gene is inherited as an autosomal recessive trait. This means that patients must inherit one mutated gene from each parent in order to develop the disease.

Patients who only have one mutated gene and do not experience symptoms of the disorder are called carriers. Although carriers do not have the disorder, they have a 50% chance of passing a copy of the mutated gene on to their children. Researchers estimate that one out of 20 Caucasians are carriers of CF.

Both parents must either be a carrier or have the disorder in order for their children to develop the CF. If both parents are carriers of the mutated cystic fibrosis gene, there is a 25% chance that each of their children will inherit the disease and a 50% chance that each of their children will be a carrier. If both parents have the disease, there is a 100% chance that each of their children will develop the disorder.

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