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GeneticICD-10: E84.9Affects approximately 40,000 people in the U.S. and 100,000 worldwide

Cystic Fibrosis

Also known as: CF, Mucoviscidosis

Cystic fibrosis is a life-threatening inherited disorder that causes severe damage to the lungs, digestive system, and other organs by producing thick, sticky mucus that clogs airways and traps bacteria. It is caused by mutations in the CFTR gene and is most common among people of Northern European descent. While there is no cure, breakthrough CFTR modulator therapies have dramatically improved outcomes and life expectancy in recent years.

Symptoms

Persistent cough with thick mucus
Frequent lung infections (pneumonia, bronchitis)
Wheezing and shortness of breath
Poor weight gain and growth despite good appetite
Greasy, bulky, foul-smelling stools (malabsorption)
Salty-tasting skin
Nasal polyps
Clubbing of fingers and toes
Male infertility (absent vas deferens)

Causes

  • Mutations in the CFTR gene (over 2,000 known mutations; F508del most common)
  • Autosomal recessive inheritance (both parents must carry a mutation)
  • Defective CFTR protein leads to abnormal chloride and water transport

Risk Factors

  • Both parents carrying a CFTR gene mutation
  • Northern European ancestry (highest carrier rate: 1 in 25)
  • Family history of cystic fibrosis

Diagnosis

  • Newborn screening (immunoreactive trypsinogen blood test)
  • Sweat chloride test (gold standard; chloride > 60 mmol/L confirms CF)
  • Genetic testing for CFTR mutations
  • Pulmonary function tests to assess lung function
  • Pancreatic function tests

Treatment

  • CFTR modulator therapies (elexacaftor/tezacaftor/ivacaftor—Trikafta)
  • Airway clearance techniques (chest physiotherapy, vest therapy)
  • Inhaled mucolytics (dornase alfa) and hypertonic saline
  • Inhaled antibiotics (tobramycin) for chronic Pseudomonas infection
  • Pancreatic enzyme replacement therapy (PERT) with meals
  • Lung transplantation for end-stage lung disease

Prevention

  • Genetic counseling for carriers and affected families
  • Carrier screening before or during pregnancy
  • Newborn screening enables early diagnosis and treatment

When to See a Doctor

  • Your newborn has a positive CF screening result
  • Your child has recurrent respiratory infections or poor growth
  • You or your partner have a family history of CF and are planning a pregnancy
  • A child or adult with CF experiences worsening respiratory symptoms

Frequently Asked Questions

Related Conditions

Asthma

Respiratory

Bronchitis

Respiratory

Chronic Obstructive Pulmonary Disease

Respiratory

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