About Cystic Fibrosis

Discover the Cystic Fibrosis causes

Cystic Fibrosis (CF) is a genetic disorder that is passed from parent to child. Out of every 100 individuals with Caucasian ancestry, 4 persons will be carriers of the abnormal gene.

The cystic fibrosis gene, what is going wrong?

CF patients have an abnormal cystic fibrosis transmembrane conductance regulator (CFTR) gene. This regulator is a proteinaceous compound which dictates the amount of water in mucus.

Mucus is a normal product of the human body that is made up of water, salt, sugars and proteins. It has integral functions in the various bodily tubes and passageways. By cleansing and lubrication, mucus maintains optimal function and prevents infection.

How does the mutant gene causes cystic fibrosis?

Aberrant CFTR genes cause the production of abnormally thick gluey mucus with inadequate water content. Rather than allow normal passage of bodily fluids, the mucus causes obstruction and symptoms.

Two abnormal CFTR genes are needed to trigger the disease, one from each parent. Carriers only have one anomalous CFTR gene and therefore have no symptoms.

What is the chance of producing babies with CF?

Couples who are both carriers have a 25% chance of having offspring who will develop cystic fibrosis. There is an equal probability of having a completely normal child who is not even a carrier of the abnormal gene. The probability of having a child who is not symptomatic but is a carrier is 50%.

This does not mean that one out of every four of your children will have the disease. This means each pregnancy has a one in four chances of resulting in a CF baby. A couple can conceivably have four cystic fibrosis babies, or four healthy ones. It is important to be knowledgeable and to be prepared.

Disclaimer: This website provides general information about cystic fibrosis and in no means should be taken as a medical or health advice. Please consult your doctor before acting on any of its information.