Cystic Fibrosis

Cystic fibrosis (CF) is genetic disease characterized by defects in the transport of a molecule called chloride. Abnormalities in CF have been described in several organs and tissues, including the airways, pancreas, bile ducts, gastrointestinal tract, sweat glands, and male reproductive. Lung function is often normal at birth; however, airway obstruction and inflammation as well as bacterial colonization are characteristically seen in the CF airways. The pathophysiological consequences that follow are believed to stem from repetitive cycles of bacterial infection, which contributes to a progressive deterioration in lung function.

In the United States, the disease affects about one in every 3,900 babies born annually, and it is estimated that approximately 30,000 Americans are afflicted with this disease. The genetic defect that causes CF is most common in people of northern European descent. It is estimated that one in 25 of these individuals are carriers of a defective gene that causes CF. Currently, there is no cure for CF and the disease can be fatal. In the past, individuals with CF would die sometime during childhood. With pharmacological intervention due to drug discovery from many years of research, the age of survival has increased 31 years.

A cystic fibrosis patient using a nebulizer to loosen and subsequently expectorate the build up of thick mucus in the lungs. © Simon Fraser, National Audubon Society Collection/Photo Researchers, Inc. Reproduced with permission.