Blog
Cystic fibrosis
Covenant Metabolic Specialists Health Library
Covenant Metabolic Specialists
Physician Reviewed
Dec 3, 2025
Cystic fibrosis (CF) is a genetic disorder that affects the lungs, pancreas, liver, and digestive system. It leads to the production of thick, sticky mucus that blocks airways and disrupts normal organ function. While there’s no cure, breakthroughs in personalized treatment have significantly extended life expectancy and quality of life.
What is Cystic Fibrosis?
CF is caused by mutations in the CFTR gene, which affects chloride and fluid transport in cells. This results in mucus buildup that promotes lung infections and impairs digestion. It’s most commonly diagnosed in childhood through newborn screening, though adult-onset cases are increasingly identified.
Symptoms
Chronic cough with thick mucus
Frequent lung infections (e.g., bronchitis, pneumonia)
Wheezing or shortness of breath
Poor weight gain and growth
Greasy, bulky stools
Nasal polyps or sinusitis
Infertility (in most males)
Clubbing of fingers and toes
Causes
Inherited mutations in both copies of the CFTR gene
Autosomal recessive inheritance pattern
Risk Factors
Family history
Both parents are carriers of CFTR mutations
Caucasian or Ashkenazi Jewish ancestry (higher incidence)
Diagnosis
Newborn screening (standard in the U.S.)
Sweat chloride test
CFTR genetic testing
Lung function tests and imaging
Stool tests for pancreatic insufficiency
Treatments
Airway clearance techniques (e.g., percussion vests)
Inhaled medications: Bronchodilators, antibiotics, mucolytics
CFTR modulators (e.g., Trikafta, Kalydeco)
Pancreatic enzyme replacement
Nutritional support
Lung transplant in advanced cases
Prevention
CF is one of the clearest examples of how gene-targeted medicine can transform lives. At Covenant, we support not just lungs and digestion—but the full spectrum of CF-related metabolic stress.
Our Take
No prevention once inherited, but carrier screening and genetic counseling can reduce transmission risk
Speak with a Covenant provider to learn how to keep yourself healthy.
