Cystic Fibrosis

Cystic fibrosis is autosomal recessive CFTR mutation causing dysfunctional chloride transport, affecting lungs (recurrent infection/bronchiectasis), pancreas (insufficiency), GI (meconium ileus), and sweat glands. Treatment: pancreatic enzyme replacement therapy (PERT); fat-soluble vitamins/nutrition; airway clearance (chest physiotherapy/bronchodilators/mucolytics); antibiotics for pulmonary exacerbations; CFTR modulators (ivacaftor/lumacaftor/tezacaftor/tezacaftor-elexacaftor); treat diabetes/liver disease; lung/transplant for end-stage; multidisciplinary follow-up.

Common Symptoms

Recurrent pulmonary infection; steatorrhea; meconium ileus; salty sweat; autosomal recessive

Causes and Pathogenesis

CFTR mutation causes defective chloride transport and thick sticky secretions.

Treatment

PERT; nutrition; airway clearance; antibiotics; CFTR modulators; transplant

Preventive Measures

Newborn screening; genetic counseling; early multidisciplinary care.

Department to Visit

It is recommended to visit the Pulmonology/Gastroenterology/Pediatrics/Transplant department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.