Summary
- Genetic multisystem disease associated with abnormalities in salt and water transport across epithelial surfaces affecting primarily the respiratory and gastrointestinal tracts.
- Age of onset of symptoms is highly variable; implementation of newborn screening allows for early detection and treatment.
- Most common manifestations are pancreatic dysfunction, resulting in calorie malabsorption, and lung disease, resulting from a cycle of mucus retention, infection, and inflammation.
- A sweat test is the most conclusive test for diagnosis. Genetic testing may be required in some cases.
- Respiratory disease treatment includes mucus thinners, airway clearance, and antibiotics.
- Gastrointestinal disease is treated with supplemental pancreatic enzymes, calories, and fat-soluble vitamins to support growth and nutrition.
- Although severely life-shortening, in the past 50 years average survival has increased dramatically to almost 38 years of age.
Other related conditions
- Disorders of infant feeding
- Overview of pneumonia
- Acute bronchitis
- Coeliac disease
- Asthma in children
- Acute pancreatitis
- Type 2 diabetes in adults
- Type 2 diabetes in children
- Cirrhosis
- Allergic bronchopulmonary aspergillosis
- Nasal polyps
- Rickets
- Assessment of short stature
- Chronic sinusitis
- Failure to thrive
- Osteoporosis
- Pneumothorax
- Respiratory failure
- Assessment of respiratory acidosis
- Assessment of metabolic alkalosis
- Delayed puberty
- Rheumatoid arthritis
- Bronchiolitis
- Bronchiectasis
- Assessment of hearing loss
- Constipation in children
- Constipation
Last updated: Jan 15, 2013
