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What Causes Cystic Fibrosis

Cystic fibrosis, also referred to as CF or mucoviscidosis, is a disease that affects the respiratory, endocrine, reproductive and digestive systems. The most common, and dangerous, symptom that occurs in patients with cystic fibrosis is difficulty breathing; often caused by a secondary chest infection. However, other symptoms may include; thick mucus build-up, coughing, skin that tastes salty, sinus infections, stunted growth, diarrhea, and infertility. It is detectable before birth, but most commonly is discovered by a sweat test. Let’s take a look at what causes this disease.

What causes cystic fibrosis?
Cystic fibrosis is caused by a mutation in the gene for a protein called cystic fibrosis transmembrane conductance regulator. This protein controls the movement of water and salt in and out of cells. It also allows the body to regulate the composition of sweat, mucus and digestive juices. When this protein isn’t working it creates thick sticky mucus and extremely salty sweat. This mucus accumulates in the lungs and not only makes it hard to breathe, but also provides a breeding ground for bacteria that cause chest infections.

The defective gene that causes cystic fibrosis is inherited. It takes two copies of the faulty gene, one from each parent, to cause cystic fibrosis. This means that many people carry one copy of the faulty gene without ever knowing it. In fact, it is estimated that 1 in 25 people from a Caucasian background carry 1 faulty gene that causes this disease!

There is no cure for cystic fibrosis and the disease must be carefully managed. Most patients require long-term antibiotics to prevent chest infections. They may also require techniques to dislodge the thick mucus. As the disease progresses mechanical breathing support and lung transplantation may be required. Life expectancy depends on the level of medical care. In the United States the average life expectancy is about 37 years.

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