Cystic fibrosis: the revolution of CFTR modulators

A multisystemic genetic disease

Cystic fibrosis results from mutations in the CFTR gene, causing thick mucus that obstructs the bronchi, pancreas, and bile ducts. Symptoms: repeated respiratory infections, pancreatic insufficiency, male infertility, salty sweat.

Diagnosis

Neonatal screening (immunoreactive trypsin), sweat test, genetics (>2000 mutations identified, F508del most common).

CFTR modulators: the revolution

Kaftrio (elexacaftor/tezacaftor/ivacaftor) benefits more than 90% of patients with at least one F508del mutation. Dramatic reduction in exacerbations, improvement in respiratory function and quality of life.

Global management

Daily respiratory physiotherapy, targeted antibiotic therapy (including inhaled), pancreatic enzymes, fat-soluble vitamins (A, D, E, K), hypercaloric nutrition. Lung transplantation for terminal forms.