Genetic Disorders: All About Cystic Fibrosis
Q. What is cystic fibrosis?
Cystic fibrosis (CF) is a genetic disorder that causes mucus to become thick and sticky and build up, leading to breathing and digestion issues.
Q. Who gets it?
In order for a child to have CF, both parents must be carriers of the gene mutation that produces it. Approximately 1 in every 3,500 babies will be born with it. People of any race or ethnicity can get CF, but it's most common in Caucasians.
Q. What's the prognosis?
Thick mucus can build up in the lungs, making breathing difficult or causing infections and permanent lung damage. If mucus builds up in the digestive system, that can make it hard for the body to break down food properly and a child with CF may not get the nutrients he needs. "The improvements in life expectancy and quality of life for individuals with CF has been quite remarkable over the past few decades," says genetic counselor and cystic fibrosis expert Jessica Balcom. "While CF was classically considered to be a childhood fatal disorder, many people with CF are now living into their 30s, 40s, and beyond. Median life expectancy for CF patients is now in the mid-30s and is expected to continue to increase."
Q. Are there any treatments?
Most people are diagnosed with CF as babies, since it's checked for during newborn screenings. Children with CF are often treated with antibiotics to prevent infection, mucus-thinners, ibuprofen to reduce lung inflammation, and medicines to open up the air passages in the lungs. Kids with CF often also need to take extra vitamins or medications to help them properly digest food. If lungs become irreversibly damaged over time, a lung transplant can help people live longer and with fewer symptoms. "Many people with CF are living longer than ever before, thanks to earlier diagnosis and better treatments that target the different aspects of the disease, such as respiratory infections, nutritional deficiencies, diabetes, and more," says Dennis Rosen, M.D., a pediatric pulmonologist at Boston Children's Hospital and author of Successful Sleep Strategies for Kids (a Harvard Medical School Guide). "One of the more exciting advances of the last few years has been the development of drugs that are able to help some patients with certain genetic mutations regain function at the level of the individual cell."
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