cystic fibrosis
Also written as: CF — cystic fibrosis
An inherited disorder affecting the lungs and digestive system through abnormal mucus production.
Full Definition
Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the CFTR gene, resulting in defective chloride transport and abnormally thick, sticky mucus production. This affects primarily the respiratory and digestive systems, leading to chronic lung infections, progressive lung damage, and pancreatic insufficiency. In pediatric pulmonology, management focuses on airway clearance techniques, inhaled medications, nutritional support, and infection prevention. Early diagnosis through newborn screening has significantly improved outcomes.
Usage
Usage note: Always capitalize when referring to the specific disease entity.
In Context
- "The newborn screening was positive for cystic fibrosis, prompting genetic confirmation testing." — Laboratory report
- "Daily airway clearance therapy is essential for managing CF-related pulmonary symptoms." — Treatment protocol