Understanding Cystic Fibrosis

Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). Mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene and the resulting abnormalities in the protein product cause the body to make thick, sticky mucus in the lungs and leads to lung-damaging infections; and blocks the pancreas and stops the body from being able to break down and absorb food. Also affected are the sinuses, intestines, liver, and male reproductive tract.

Babies with CF have a bright future ahead of them. They attain normal developmental milestones. Children with CF go to school, play sports, and participate in their family life activities. Adults with CF can go to college, have successful careers, get married, and have children. CF is the most common hereditary condition in the Caucasian population. It occurs in about 1 in 3000 births among people of Caucasian background. This means that approximately 1 in 25 people in this population carry one non-working CF gene. However, in every ethnic group a certain percentage of people are CF gene mutation carriers. It is possible to have CF even if there is no family history of CF.

CF is inherited in an autosomal recessive manner. A person has cystic fibrosis when both copies of his or her CF gene each contain a mutation. Parents who are both CF gene mutation carriers have one working gene and one non-working (mutated) gene. Each person with only one working gene remains healthy. Together, they have a 1 in 4 chance to have child with CF for each pregnancy they conceive.

Standard CF therapies include the following: Airway Clearance Therapy (Manual chest clapping with postural drainage, or mechanical devices), antibiotics to treat acute pulmonary infections, a regimen of oral and/or inhaled antibiotics (Tobi, Zithromax, Cayston (aztreonam)) to prevent colonization with Pseudomonas Aeruginosa, aerosols (Pulmozyme, hypertonic saline) to thin pulmonary secretions, nutritional supplements and pancreatic enzymes (to address malabsorption of fat leading to malnutrition). Many asthma medications and anti-inflammatory products (metered dose inhalers, nasal sprays and steroids) are used in treating CF as well. CF patients may be hospitalized once a year for IV antibiotics and good airway clearance.

Currently, there is no cure for cystic fibrosis. However, it is hoped that specialized medical care, aggressive drug treatments and therapies, along with proper nutrition, can lengthen and improve the length and quality of life for those with CF. Over 50% of people with CF are adults.

CF research is aimed at improving delivery of and standardizing the use of existing therapies and developing and testing new compounds that address the basic (genetic and protein) defects of CF. New treatments such as ivacaftor and lumacaftor (brand names Kalydeco (iva) and Orkambi (iva/lum combination) are the product of the CF community’s dedication to finding innovative therapies for CF.