Heritable Disease - Cystic Fibrosis

Genetic pattern

Autosomal recessive

Gene mutated

CFTR (chromosome 7)

Most common mutation

ΔF508 (misfolding)

CFTR protein function

Chloride ion channel regulating mucus & sweat

Pathophysiology

Thick mucus → infection → inflammation → lung damage

Major symptoms

Chronic lung infections, persistent cough, pancreatic insufficiency

Mucociliary defect

Thick mucus blocks airway → impaired clearance

Sweat test finding

High chloride levels

GI complications

Pancreatic enzyme loss, malabsorption

Estrogen complication

Can worsen mucus thickness in female CF patients

Treatment basics

Airway clearance, antibiotics, pancreatic enzymes

Gene therapy concept

Restore or replace defective CFTR gene