Overview
Cystic fibrosis (CF) is a life-threatening genetic disease that affects the cells that produce mucus, sweat, and digestive juices. These fluids become thick and sticky, clogging the lungs, pancreas, and other organs.
CF is one of the most common inherited diseases in people of European descent, though it affects all ethnic groups. Advances in treatment have dramatically improved life expectancy and quality of life for people living with CF.
Symptoms
Symptoms include persistent cough, shortness of breath, frequent lung infections, poor weight gain, and salty-tasting skin.
Other common symptoms include wheezing, chest tightness, greasy stools, and infertility (particularly in men). Symptoms can vary widely in severity and may appear at different ages.
Causes
It is caused by a mutation in the CFTR gene, which is inherited in an autosomal recessive pattern.
The CFTR protein regulates the movement of salt and water in and out of cells. When the gene is mutated, the protein doesn't function properly, leading to the production of thick, sticky mucus. A person must inherit two mutated copies of the gene (one from each parent) to have CF.
Treatment
Treatment includes medications to thin mucus, antibiotics, airway clearance techniques, and enzyme supplements. Newer medications (CFTR modulators) target the underlying defect.
CFTR modulators have transformed CF care for eligible patients by improving lung function and reducing hospitalizations. Lung transplantation may be considered in advanced disease. Nutritional support and pancreatic enzyme replacement are essential for maintaining digestive health.
When to See a Doctor
Early diagnosis through newborn screening is crucial. See a doctor if you have symptoms.
If you or your child experiences persistent coughing, frequent lung infections, or poor growth, consult a healthcare professional. Genetic counseling is recommended for families with a history of CF who are planning children.