Cystic Fibrosis

Cystic fibrosis (mucoviscidosis) is an autosomal-recessive CFTR chloride-channel defect affecting exocrine glands. Multi-system: pulmonary (recurrent infection, bronchiectasis), pancreatic insufficiency (steatorrhea, malnutrition, diabetes), GI (meconium ileus in neonates, distal intestinal obstruction), sinus disease, and infertility. Newborn screening detects it. Treatment: airway clearance, inhaled/systemic antibiotics, pancreatic-enzyme replacement, nutrition, CFTR modulators, and transplant in end-stage lung disease.

Common Symptoms

Chronic cough/recurrent lung infection; steatorrhea/failure to thrive; meconium ileus; sinus disease; salty-tasting skin; infertility

Causes and Pathogenesis

CFTR mutation impairs chloride/water transport, dehydrating exocrine secretions and causing mucus obstruction/infection in lung, pancreas, gut.

Treatment

Airway clearance; antibiotics; pancreatic-enzyme replacement; nutrition; CFTR modulators; lung transplant

Preventive Measures

Newborn screening; genetic counseling; early multidisciplinary care.

Department to Visit

It is recommended to visit the Respiratory 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.