Cystic fibrosis

• • A genetic disorder affecting mucous movement in the respiratory, digestive and reproductive systems • • Symptoms include difficulty breathing, losing weight, intestinal blockages • • Medications and surgical procedures may be needed to help with digestive and respiratory health • • Involves Cystic Fibrosis Program, Pediatrics, Pediatric Pulmonology, Allergy, & Immunology Because newborns across the United States are now screened for cystic fibrosis soon after they’re born, the condition is being diagnosed and treated earlier. Partially as a result of improved screening and early detection, and also because there are new and more effective treatments, many children with cystic fibrosis are now living longer, healthier lives. “We now identify children before they become symptomatic,” says This genetic disorder, which primarily affects the respiratory, digestive and reproductive systems, can keep organs and systems from functioning properly and can lead to many complications. In the past, children may not have lived to their 20s, but now if the condition is managed well, they are living into their 50s. Cystic fibrosis is a genetic disorder. A child who has cystic fibrosis has received a mutated cystic fibrosis transmembrane conductance regulator (CFTR) gene from both parents. “It’s what we call an autosomal recessive disorder, which means you have to inherit a copy of the gene that contains an error from both your mother and your father,” Dr. Egan says. “Most people say, ...

Cystic fibrosis is a progressive, genetic disease that affects the lungs, pancreas, and other organs. There are close to 40,000 children and adults living with cystic fibrosis in the United States (and an estimated 105,000 people have been diagnosed with CF across 94 countries), and CF can affect people of every racial and ethnic group. There are many misconceptions about CF. Learn the facts on our page, In people with CF, In the Learn how the cystic fibrosis transmembrane conductance regulator affects the digestive system. Understand how the cystic fibrosis transmembrane conductance regulator (CFTR) affects the GI system. Today, because of improved medical treatments and care, more than half of people with CF are age 18 or older. Many people with CF can expect to live healthy, fulfilling lives into their 30s, 40s, and beyond. Symptoms of CF People with CF can have a variety of symptoms, including: • Very salty-tasting skin • Persistent coughing, at times with phlegm • Frequent lung infections including pneumonia or bronchitis • Wheezing or shortness of breath • Poor growth or weight gain in spite of a good appetite • Frequent greasy, bulky stools or difficulty with bowel movements • Nasal polyps • Chronic sinus infections • Clubbing or enlargement of the fingertips and toes • Rectal prolapse • Learn more about CF — from diagnosis to living with the disease as an adult — in " Cystic fibrosis is a People with only one copy of the defective CF gene are called carriers, but t...

Share on Pinterest Science History Images / Alamy Stock Photo Identified in 1938, many people now understand that CF is a genetic condition. Today, Effective treatments have extended life expectancy, and the future looks brighter for individuals with CF today. Here’s an explanation of the history of CF — identification, diagnosis, and treatment. CF is a genetic condition that occurs due to structural changes in certain proteins in the body. These proteins usually manage how cells, tissues, and glands regulate sweat and mucus production. These changes cause the mucus to be thick and sticky. That sticky mucus builds up, leading to organ damage, infection, and inflammation. Symptoms of CF include: • • • • night sweats and • severe • • • • • delayed puberty • salty skin • saltier than usual sweat Over the next 80 years, many discoveries led to revolutionary treatments for cystic fibrosis and other diseases. Excess sweat In 1948, during a heat wave in New York City, pediatrician Paul di Sant’Agnese discovered a fivefold excess of Sweat test Experts developed a standardized sweat test in 1959 based on his discovery and other research. This new test allowed milder cases of CF to be identifiable and broadened the scope of research beyond CF as a mucus disorder. Doctors use a version of the sweat test today to help identify children with CF. Cystic fibrosis care centers At the same time, in 1955, the first center opened in the United States to provide care specifically for children...

The clinic specializes in the care of pediatric and adult patients. Doctors trained in lung conditions (pulmonologists) work with medical professionals in many areas to give you personalized, top-quality care. The dedicated staff includes physicians, nurses, dietitians, genetic counselors, physical therapists, social workers and respiratory therapists. The center staff works closely with the This collaborative approach often allows doctors to evaluate your condition and develop a treatment plan within a few days. Advanced diagnosis and treatment Transplant improves future for people with cystic fibrosis. Click here for an infographic to learn more Doctors at Mayo Clinic's campuses in Florida and Minnesota can evaluate and treat adults who have cystic fibrosis. Mayo Clinic's campus in Minnesota offers expanded capabilities, including a trained, multispecialty team of doctors and other medical professionals that evaluates and treats adults and children with CF. Mayo Clinic's Mayo Clinic doctors may recommend a lung transplant for adults with cystic fibrosis who meet specific criteria. Your doctor may discuss this with you if you're a candidate for a lung transplant. The Vest therapy for cystic fibrosis A Mayo Clinic respiratory therapist explains the purpose of vest therapy to a child with cystic fibrosis and his mother. As part of the Mayo Clinic's This comprehensive health care team delivers personalized, effective treatment for your child in a family-friendly environment....