Cystic Fibrosis Management
Expert multidisciplinary care for cystic fibrosis with advanced CFTR modulator therapies and personalized treatment plans
What is Cystic Fibrosis?
Cystic fibrosis (CF) is a progressive, genetic disorder that causes persistent lung infections and limits the ability to breathe over time. It affects the cells that produce mucus, sweat, and digestive juices, causing these fluids to become thick and sticky instead of thin and slippery.
This lifelong condition affects approximately 70,000 people worldwide, with about 1,000 new cases diagnosed each year in the United States alone. The median survival age has increased dramatically from early childhood in the 1950s to nearly 50 years today due to advances in treatment.
How CF affects the body:
Respiratory System
Thick mucus clogs airways, trapping bacteria and leading to chronic infections, inflammation, and progressive lung damage.
Digestive System
Thick mucus blocks pancreatic ducts, preventing digestive enzymes from reaching the intestines. This leads to malabsorption, poor growth, and nutritional deficiencies.
Reproductive System
Most men with CF are infertile due to blocked sperm ducts. Women may have reduced fertility due to thick cervical mucus.
Genetics & Cause
Cystic fibrosis is caused by mutations in the CFTR gene (Cystic Fibrosis Transmembrane Conductance Regulator) on chromosome 7.
Inheritance Pattern
CF is an autosomal recessive disorder, meaning a child must inherit two defective CFTR genes (one from each parent) to develop the disease.
Common CFTR Mutations
- F508del (most common - 70% of alleles)
- G551D (class III mutation)
- G542X (nonsense mutation)
- N1303K (missense mutation)
Mutation Classes
- Class I: No protein synthesis
- Class II: Defective processing/trafficking
- Class III: Defective channel regulation
- Class IV: Decreased channel conductance
Signs and Symptoms
Respiratory Symptoms
Persistent Cough
Chronic, productive cough with thick mucus
Recurring Infections
Frequent pneumonia, bronchitis, sinusitis
Wheezing
Whistling sound during breathing
Shortness of Breath
Especially with physical activity
Digestive & Nutritional Symptoms
Greasy, Foul Stools
Steatorrhea from fat malabsorption
Poor Weight Gain
Failure to thrive despite normal appetite
When to Seek Medical Care
⚠️ Seek immediate medical attention if you experience:
- Increased shortness of breath or wheezing
- Changes in sputum color, volume, or thickness
- Fever higher than 101°F (38.3°C)
- Coughing up blood (hemoptysis)
- Sudden weight loss or decreased appetite
How is Cystic Fibrosis Diagnosed?
- Newborn Screening: Immunoreactive trypsinogen (IRT) test on blood spot
- Sweat Chloride Test: Gold standard diagnostic test. Values >60 mmol/L indicate CF
- Genetic Testing: CFTR mutation analysis to identify specific mutations
- Chest X-Ray/CT Scan: Imaging to assess lung damage
- Pulmonary Function Tests (PFTs): Spirometry to measure lung function
Cystic Fibrosis Treatment at Our Center
CFTR Modulator Therapies (Precision Medicine)
- Ivacaftor (Kalydeco): Potentiator for class III and IV mutations
- Lumacaftor/Ivacaftor (Orkambi): Corrector + potentiator for F508del homozygotes
- Tezacaftor/Ivacaftor (Symdeko/Symkevi): Improved version for F508del
- Elexacaftor/Tezacaftor/Ivacaftor (Trikafta): Highly effective triple combination
Nutritional Management
- High-calorie, high-fat diet (120-150% of recommended daily intake)
- Pancreatic enzyme replacement therapy (PERT) with meals
- Fat-soluble vitamin supplementation (A, D, E, K)
- Salt supplementation, especially in hot weather
Advanced Therapies
- Lung Transplantation: For end-stage lung disease
- CFTR Modulator Therapy: Precision medicine targeting specific mutations
- Gene Therapy: Investigational approaches
Prognosis and Long-term Outlook
Median survival age (2023)
Adults with CF in US
Annual improvement in FEV1 with Trikafta
Why Choose Our CF Care Center?
Accredited multidisciplinary care for all ages
CFTR Modulator Expertise
Personalized precision medicine
Multidisciplinary Team
Pulmonology, GI, nutrition, social work
Clinical Trials Access
Novel therapies and research opportunities
Lifespan Care
Pediatric to adult transition program
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