Cystic Fibrosis

Cystic fibrosis (CF) is a genetic disease that makes the body's mucus thick and sticky. It blocks the lungs (leading to repeated infections and progressive lung damage) and the pancreas (causing poor digestion and weight-gain problems). It is much less common in Indians than in Europeans but is under-diagnosed in India — many cases are mistaken for TB or recurrent pneumonia for years.

Common features

• Chronic cough, recurrent chest infections, wheeze, breathlessness from infancy or childhood.
• Fatty, foul-smelling stools, poor weight gain despite good appetite (pancreatic insufficiency).
• Salty-tasting sweat.
• Nasal polyps, sinusitis in children.
• Clubbing of fingers in older children.
• Male infertility (congenital absence of vas deferens).

Diagnosis

• Sweat chloride test — the classic test; available at some Indian tertiary centres.
• CFTR gene testing — important because the Indian genetic spectrum differs from European CF and many commercial panels miss Indian-specific variants.
• Often delayed by years of being treated as "recurrent bronchitis" or "drug-resistant TB" — think of CF in children with repeated chest infections + poor weight gain.

Treatment

• Airway clearance — daily chest physiotherapy, nebulised hypertonic saline, mucolytic agent class.
• Inhaled antibiotics for chronic Pseudomonas infection.
• Oral pancreatic enzyme replacement with every meal and snack.
• Fat-soluble vitamin (A, D, E, K) supplementation.
• High-calorie, high-protein diet.
• CFTR modulators (genotype-specific newer drugs) — transformative for eligible genotypes. Limited availability and cost in India; patient-assistance programmes are expanding.
• Lung transplantation in advanced disease — at a few Indian centres.
• Indian parent and patient support networks provide information, advocacy, and cost-support — a CF specialist can point you to the right one.

Special notes

• Vaccinations are important — flu, pneumococcal, Hep A/B, COVID.
• Infection control — avoid contact between CF patients; separate chest physio sessions; good hand hygiene.
• Genetic counselling — siblings and future pregnancies; carrier testing for partners.