Cystic Fibrosis

What Is Cystic Fibrosis?

Cystic Fibrosis (CF) is a genetic respiratory disease caused by a defective gene that creates thick and sticky mucus. This mucus causes repeated, often dangerous, lung infections as well as pancreatic obstructions that prevent vital enzymes from breaking down nutrients for the body. Cystic Fibrosis impacts an estimated 30,000 people in the United States. Three out of four cases are diagnosed by the age of two.

What Are the Symptoms of Cystic Fibrosis?

• Higher than normal levels of salt in a person’s perspiration (sweat)
• A persistent cough that produces thick mucus (sputum)
• Wheezing
• Breathlessness
• Exercise intolerance
• Repeated lung infections
• Inflamed nasal passages or a stuffy nose
• In adults - Recurring bouts of inflamed pancreas (pancreatitis)
• In adults - Infertility
• In adults - Recurring pneumonia

How Is Cystic Fibrosis Diagnosed?

Newborn Screening (NBS) and Diagnosis 

• All newborns are screened with a blood test to determine if there are higher than normal levels of immunoreactive trypsinogen (IRT) a chemical released by the pancreas. 
• To rule out or confirm a CF diagnosis, further diagnostic tests may include:
  • Genetic tests determine if there are specific defects caused by the gene responsible for cystic fibrosis
  • Sweat test to determine if perspiration is saltier than normal

Testing of Older Children and Adults

• Genetic and sweat tests may be recommended if adult patients suffer from recurring inflamed pancreas (pancreatitis), nasal polyps, chronic sinus or lung infections, bronchiectasis, or male infertility.

How Is Cystic Fibrosis Treated

While there is no cure for cystic fibrosis, treatment can help address symptoms and reduce complications. We recommend close monitoring and early, aggressive intervention. Erlanger offers physicians and providers who are specialty trained and work as part of a multidisciplinary team to manage this complex disease. Our treatment goals are to:

• Prevent and control lung infections
• Remove and loosen mucus from the lungs
• Treat and prevent blockage of the intestines
• Provide adequate nutrition

What Medications Can Help Manage Cystic Fibrosis?

• Antibiotics to treat and prevent lung infections
• Anti-inflammatory medications to lessen swelling in the airways in your lungs
• Mucus-thinning drugs to help you cough up the mucus, which can improve lung function
• Inhaled medications called bronchodilators that can help keep your airways open by relaxing the muscles around your bronchial tubes
• Oral pancreatic enzymes to help your digestive tract absorb nutrients

What Erlanger Resources Are Available for Cystic Fibrosis?

• Pediatric Care – Pediatric Pulmonary Medicine and Cystic Fibrosis Center through Children’s Hospital at Erlanger
• Adult Care – Erlanger Respiratory, Critical Care, and Sleep Medicine
• Genetic Testing – Medical Genetics through Children’s Hospital at Erlanger