A diagnosis of cystic fibrosis is one of the most significant conversations I have with families. It is also one where the landscape has changed more dramatically in the past ten years than in the previous fifty. The prognosis for children diagnosed with CF today is fundamentally different from what it was a generation ago, and that matters enormously.
What is cystic fibrosis?
Cystic fibrosis (CF) is a genetic condition caused by mutations in the CFTR gene (cystic fibrosis transmembrane conductance regulator). This gene controls the movement of salt and water in and out of cells. When it does not function correctly, secretions throughout the body, in the lungs, gut, liver, and pancreas, become thick and sticky rather than thin and flowing.
In the lungs, thick mucus is difficult to clear from the airways. It accumulates, blocks airflow, and provides an ideal environment for bacteria, leading to chronic infection, inflammation, and progressive lung damage over time.
CF affects approximately 1 in 2,500 live births in European populations. It is less common but not rare in South Asian and Middle Eastern populations, and it is underdiagnosed in the UAE and GCC due to lower awareness and less systematic newborn screening historically.
How is cystic fibrosis diagnosed?
In the UK, where I trained and practiced, CF is detected through newborn blood spot screening within days of birth. In the UAE, newborn screening programmes are expanding but not yet universally comprehensive.
CF should be considered in any child with:
- Persistent wet cough, particularly with Pseudomonas or Staphylococcus on airway cultures
- Recurrent chest infections and failure to thrive
- Malabsorption, greasy, foul-smelling stools; poor weight gain despite good appetite
- Nasal polyps in a child (rare in children without CF)
- A family history of CF or unexplained childhood respiratory illness
- Unusually salty skin ("salty baby", a classic parental observation)
The diagnostic test is the sweat chloride test, a simple, non-invasive test measuring the concentration of chloride in sweat. A raised result (above 60 mmol/L) confirms the diagnosis. CFTR genotyping then identifies the specific mutations, which is important for treatment planning.
Management: a multidisciplinary approach
CF is managed by a specialist team including a pediatric pulmonologist, CF nurse, physiotherapist, dietitian, and (where needed) gastroenterologist and social worker. I coordinate all of these within the multidisciplinary team.
Core components of CF management include:
- Airway clearance physiotherapy, daily chest physiotherapy to mobilise and clear mucus. Technique, compliance, and appropriate equipment make a major difference to lung health over time.
- Inhaled treatments, hypertonic saline and DNase (Pulmozyme) thin the mucus and improve its clearance.
- Antibiotic treatment, both prophylactic and aggressive treatment of acute infections. Choice of antibiotic is guided by regular sputum microbiology cultures.
- Pancreatic enzyme replacement (PERT), for children with exocrine pancreatic insufficiency, enzymes taken with every meal and snack improve absorption and growth dramatically.
- Nutritional support, children with CF have higher caloric needs. Growth is a surrogate marker for lung health, poorly nourished children have worse respiratory outcomes.
CFTR modulator therapy: the revolution in CF treatment
The past decade has seen the most significant advance in the history of CF treatment: CFTR modulator drugs that correct the underlying protein defect rather than just treating its consequences.
The most important of these is Elexacaftor-tezacaftor-ivacaftor (Kaftrio/Trikafta), which is now approved for children with at least one F508del mutation (the most common CF mutation, present in approximately 90% of CF patients). In clinical trials, Kaftrio improved lung function by 14 percentage points, reduced pulmonary exacerbations by 63%, and dramatically improved quality of life.
These drugs are available and prescribable in the UAE. For eligible children, they represent a transformation in disease trajectory. I have experience prescribing and monitoring CFTR modulator therapy and discuss eligibility at every relevant consultation.
A child diagnosed with CF today, started on CFTR modulator therapy, and followed closely by a specialist team has a fundamentally different outlook than was the case even fifteen years ago. Median predicted survival now exceeds 50 years and continues to rise. This is not a reason for complacency, lung health requires daily work, but it is a reason for genuine optimism.
