cystic fibrosis
A genetic disorder affecting the lungs and digestive system through abnormal production of thick, sticky secretions.
Full Definition
An autosomal recessive genetic disorder caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which encodes a chloride channel protein. The defective protein leads to production of abnormally thick and sticky secretions in the lungs, pancreas, and other organs. This results in progressive lung disease, pancreatic insufficiency, and elevated sweat chloride levels. Cystic fibrosis is detected through newborn screening by measuring immunoreactive trypsinogen (IRT) levels and confirmed through sweat chloride testing or genetic analysis.
Usage
Usage note: Commonly abbreviated as CF in clinical documentation.
In Context
- "The implementation of newborn screening for cystic fibrosis has significantly improved early diagnosis and treatment outcomes." — Respiratory medicine journal
- "Patients with cystic fibrosis require lifelong pulmonary therapy and pancreatic enzyme replacement." — Treatment guideline