Cystic fibrosis is primarily a genetic disorder affecting the respiratory and digestive systems.
It is most commonly diagnosed in early childhood.
The disease arises from a mutation in the CFTR gene, leading to a dysfunctional CFTR protein.
This protein malfunction causes the production of thick, sticky mucus.
Major symptoms include recurrent lung infections and digestive problems.
Over 75% of cases are diagnosed before the age of 2.
A unique symptom of cystic fibrosis is a salty taste when kissing a child's cheek.
The "sweat test" is the primary method for diagnosing the condition, with high chloride levels (above 60 mmol/L) indicating cystic fibrosis.
Genetic testing is another, albeit more expensive, method for diagnosis.
Common treatments include airway clearance techniques, antibiotics, and CFTR modulators.
Some CFTR modulators can improve lung function by up to 50%.
High-dose antibiotics are used for severe infections but lose efficacy over time due to antibiotic resistance.
About half of individuals with cystic fibrosis live past the age of 40.
Respiratory failure is the leading cause of death, accounting for about 85% of cystic fibrosis-related fatalities.
The disease has the potential to cause other conditions like male infertility, liver disease, and a heightened risk of diabetes.
