What is pulmonary cystic fibrosis?

Pulmonary cystic fibrosis is a multi-system genetic disorder primarily affecting the lungs, characterized by cystic changes in lung tissue caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Which department should be consulted for pulmonary cystic fibrosis?

English name: Pulmonary Cystic Fibrosis.

Aliases: Cystic fibrosis, cystic lung disease.

Department: Respiratory medicine.

What causes pulmonary cystic fibrosis?

It is an autosomal recessive genetic disorder caused by mutations in the CFTR gene, leading to dysfunction in secretory glands and airway epithelial cells.

Who is commonly affected by pulmonary cystic fibrosis?

More prevalent in Caucasians, particularly those of Northern European descent, while rare in non-Caucasians. There is no gender difference in occurrence. The incidence in newborns is approximately 1/25,000 to 1/1,800.

What are the symptoms of pulmonary cystic fibrosis?

1. Respiratory symptoms:

Common manifestations include recurrent respiratory infections, cough, sputum production, and dyspnea. Hemoptysis and occasional pneumothorax may occur. Sputum cultures often reveal *Haemophilus influenzae*, *Staphylococcus aureus*, *Pseudomonas aeruginosa*, or *Klebsiella*. Progressive disease may lead to respiratory failure and cor pulmonale.

2. Digestive symptoms:

Malabsorption and malnutrition may cause weight loss, growth retardation, and developmental delays. Thickened intestinal secretions can lead to intestinal obstruction or rectal prolapse. Pancreatic damage may result in diabetes, while bile duct obstruction can cause jaundice and biliary cirrhosis.

3. Other:

Most male patients are infertile, and female patients have reduced fertility.

How is pulmonary cystic fibrosis diagnosed?

Diagnosis is confirmed based on early childhood or adolescent onset, respiratory symptoms, high-resolution CT findings, elevated sweat chloride/sodium levels, or identification of two pathogenic CFTR mutations (genetic testing).

How is pulmonary cystic fibrosis treated?

There is currently no cure.

• Comprehensive management includes antibiotics for infections, mucolytics, bronchodilators, physiotherapy, nutritional support, pancreatic enzyme replacement, vaccinations, and lung transplantation.
• Targeted CFTR modulators (e.g., ivacaftor) can improve defective CFTR protein function.

What is the prognosis for pulmonary cystic fibrosis?

Life expectancy has increased from 31 years a decade ago to 41 years today, with some patients surviving beyond 50. Post-lung transplant, 1-year survival reaches 70–80%, with many living over 10 years.

How to prevent pulmonary cystic fibrosis?

• As an autosomal recessive disorder, genetic testing enables early diagnosis.
• Influenza and pneumococcal vaccines help reduce respiratory infections.