Cystic Fibrosis

Cystic fibrosis (CF) is an inherited, chronic disease that interferes with the respiratory, digestive and reproductive systems, affecting 1 in every 10,000 people annually. Mutations of a specific gene (the CFTR) affect how chloride travels through the cells that line the organs of these three systems. This defective gene causes the production of thick, sticky mucus. It builds up and clogs the small airways and passageways, which carry harmful bacteria out of the body. Because the bacteria are trapped, serious infections develop that weaken the organs and place constant stress on the immune system. Other issues include sinus infections, poor growth and malnutrition related to exocrine pancreatic insufficiency and malabsorption of essential nutrients, clubbing of the fingers and toes, altered gut pH, electrolyte imbalances, liver disease, and a form of diabetes known as CF-Related Diabetes, among others. Different people may have different degrees of symptoms.

The main signs and symptoms of cystic fibrosis are salty-tasting skin, poor weight gain despite normal food intake, accumulation of thick, sticky mucus, frequent chest infections, and coughing or shortness of breath. Males can be infertile due to congenital absence of the vas deferens.Symptoms often appear in infancy and childhood, such as bowel obstruction due to meconium ileus in newborn babies. As the children grow, they exercise to release mucus in the alveoli. Ciliated epithelial cells in the person have a mutated protein that leads to abnormally viscous mucus production. The poor growth in children typically presents as an inability to gain weight or height at the same rate as their peers, and is occasionally not diagnosed until investigation is initiated for poor growth. The causes of growth failure are multifactorial and include chronic lung infection, poor absorption of nutrients through the gastrointestinal tract, and increased metabolic demand due to chronic illness.

Medical advances mean better, more effective treatments are available today to help children and adults with CF live more comfortably. But effective management of the disease requires a variety of medications that are costly, and the newest drugs available are even more expensive; treatment regimens are demanding, and depending on the extent and severity of the disease, normal activities are often disrupted by daily therapy and lengthy hospital admissions.