Cystic Fibrosis is a chronic and progressive disease caused by an inherited defect in the CFTR gene which provides instructions for creating a protein called the Cystic Fibrosis transmembrane conductance regulator. This protein acts as a channel through which negatively charged particles, called chloride ions, and positively charged particles, called sodium ions, can pass in and out of the cells that produce mucus, sweat, and digestive enzymes. Proper function of the CFTR protein is critical for the production of thin, freely flowing mucus in organs such as the upper respiratory system, lungs, pancreas, digestive tract, and reproductive system.
Symptoms of Cystic Fibrosis include:
- Frequent lung infections
- Persistent cough producing thick/sticky mucus
- Wheezing and/or shortness of breath
- Inability to absorb nutrients leading to poor growth and/or weight gain
- Male Infertility
- Excessive salt loss during perspiration
There are currently 70,000 people worldwide living with Cystic Fibrosis.