Cystic Fibrosis – Understanding the Genetic Disorder and Its Management

Cystic Fibrosis – Understanding the Genetic Disorder and Its Management

Cystic fibrosis (CF) is a lifelong genetic disorder that affects the respiratory, digestive, and reproductive systems. It causes thick, sticky mucus to build up in the lungs and other organs, leading to breathing difficulties, lung infections, and poor nutrient absorption. Early diagnosis and proper treatment can help manage symptoms, prevent complications, and improve life expectancy.

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What Causes It?

Cystic fibrosis is caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene.

Genetic inheritance (autosomal recessive pattern – both parents must carry the gene)

Family history of cystic fibrosis

Signs & Symptoms

Persistent cough with thick mucus

Frequent lung infections (pneumonia, bronchitis)

Wheezing or shortness of breath

Poor weight gain despite good appetite

Greasy, bulky stools or constipation

Salty-tasting skin

Clubbing of fingers and toes

Nasal polyps and chronic sinus infections

How We Diagnose

Our specialists use advanced diagnostic methods to accurately identify and assess your condition

Newborn Screening

Detects elevated immunoreactive trypsinogen (IRT) levels.

Sweat Test

Measures salt levels in sweat (high chloride confirms CF).

Genetic Testing

Identifies CFTR gene mutations.

Chest X-ray / CT Scan

Shows lung damage and mucus build-up.

Pulmonary Function Tests

Measure lung capacity and airflow.

Treatment Options

Personalized treatment plans tailored to your specific needs and condition

1

Airway Clearance Techniques (ACTs)

Help loosen and remove mucus from lungs.

2

Inhaled Medications

Bronchodilators, antibiotics, and mucus-thinning agents.

3

CFTR Modulators

Improve function of the defective CFTR protein (e.g., ivacaftor).

4

Enzyme Supplements

Aid digestion and nutrient absorption.

5

High-Calorie Diet

Supports healthy growth and weight maintenance.

6

Antibiotic Therapy

Prevents or treats lung infections.

7

Lung Transplant

For severe end-stage lung disease.

Home Remedies

Regular Breathing Exercises

Improve lung function.

Hydration

Keeps mucus thinner and easier to clear.

Healthy Diet

High-protein, high-calorie meals to maintain weight.

Postural Drainage

Uses positioning to drain mucus from lungs.

Humidifier Use

Keeps airways moist.

Avoid Smoke & Pollutants

Reduces lung irritation.

Prevention Tips

Maintain good hand hygiene to reduce infections.

Get annual flu and pneumonia vaccines.

Follow prescribed airway clearance routines daily.

Avoid contact with sick individuals.

Maintain regular follow-ups with a CF care team.

Surgical Solutions

Advanced surgical procedures performed by our expert specialists

Lung Transplant

For advanced cases where medical therapy fails.

Nasal Polyp Removal

To improve breathing and reduce sinus problems.

Ready to Take the Next Step?

Our specialists are here to provide expert care for cystic fibrosis – understanding the genetic disorder and its management. Schedule your consultation today.

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