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Cystic Fibrosis

A genetic disease that causes thick mucus accumulation in the lungs and predisposes to recurrent infections.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Göğüs Hastalıkları department. Book Appointment →

What is Cystic Fibrosis?

Cystic fibrosis (CF) is an autosomal recessive inherited disease caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene that disrupt chloride channel function. It is characterized by abnormally thick and sticky mucus produced by exocrine glands.

Thick mucus accumulating in the lungs predisposes to chronic bacterial infections (especially Pseudomonas aeruginosa) and leads to bronchiectasis. The pancreas, liver, and reproductive system are also affected.

Newborn screening and early diagnosis have significantly increased life expectancy. CFTR modulators (elexacaftor-tezacaftor-ivacaftor) deliver groundbreaking results by correcting the underlying protein dysfunction.

Symptoms

Chronic productive cough and recurrent lung infections
Shortness of breath
Clubbing of the fingertips
Electrolyte loss from salty sweat
Malabsorption and poor growth
Infertility in males

Risk Factors

CFTR mutation carriership in both parents
More common in white populations (approximately 1/3000)
Family history of cystic fibrosis
Severe mutation type, particularly F508del
Settings without newborn screening

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Salty skin, failure to gain weight, or lung symptoms in a newborn
  • Screening test in cases of recurrent bronchitis or pneumonia
  • 2-4 specialist-center visits per year for known CF patients
  • Emergency department for sudden deterioration of pulmonary function or severe exacerbation

Treatment Methods

01
CFTR modulators (elexacaftor-tezacaftor-ivacaftor — for eligible mutations)
02
Airway clearance with regular physiotherapy and breathing exercises
03
Inhaled bronchodilators and DNase (mucus thinning)
04
Appropriate antibiotic therapy for infections
05
Lung transplantation (in advanced respiratory failure)

Which Department to Visit?

You can visit our Göğüs Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Göğüs Hastalıkları Department

Let us help you

You can make an appointment with our specialists or contact us for your concerns.

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Related Health Topics

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Asthma is characterized by wheezing, coughing and shortness of breath attacks; with proper treatment it can be kept under control.

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Tuberculosis presents with weeks-to-months of cough, fever, and night sweats; early diagnosis and treatment lead to full recovery.

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Pneumothorax

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Bronchitis (Acute and Chronic)

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Acute bronchitis is mostly viral and resolves spontaneously, while chronic bronchitis is a smoking-related component of COPD.

Bronchiectasis

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Bronchiectasis is a chronic respiratory disease characterized by permanent, abnormal dilation of bronchi with associated destruction of muscular and elastic components of airway walls, resulting in impaired mucociliary clearance and recurrent infection.

Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.