FFinalistSouthampton · 2027
Child health
AKT · Child health/Genetic syndromes

Cystic fibrosis

CFTR mutation (ΔF508) — autosomal recessive

Overview

The commonest serious autosomal recessive disease in white populations — CFTR chloride-channel dysfunction causing thick secretions affecting lungs, pancreas, gut and reproductive tract. Detected on newborn bloodspot screening.

Recognise

  • Recurrent chest infections (Staph aureus, then Pseudomonas), bronchiectasis
  • Pancreatic insufficiency: steatorrhoea, faltering growth, fat-soluble vitamin deficiency
  • Meconium ileus in neonate; nasal polyps; male infertility (absent vas deferens)

Red flags

  • Pseudomonas colonisation, haemoptysis, distal intestinal obstruction syndrome, CF-related diabetes

Differentials & how to tell them apart

Primary ciliary dyskinesiasitus inversus, normal sweat test
Immunodeficiencyrecurrent infections, immunoglobulins
Coeliac/CMPAGI symptoms without chest disease or sweat-test change
Asthmano pancreatic/infective pattern

Investigations

Newborn bloodspot (raised immunoreactive trypsinogen) → SWEAT TEST (raised chloride >60 mmol/L) + CFTR genetics. Sputum cultures; faecal elastase (low).

Management

MDT: airway clearance + antibiotics + pancreatic enzymes (CREON) + CFTR modulators

  1. 1Specialist MDT: daily physiotherapy/airway clearance, prophylactic antibiotics, pancreatic enzyme replacement (CREON) + fat-soluble vitamins, high-calorie diet.
  2. 2Aggressive treatment/eradication of Pseudomonas; CFTR modulators for eligible genotypes; manage CF-related diabetes, lung transplant in end-stage.
Airway clearance + physiotherapy — daily
Prophylactic/long-term antibiotics — e.g. flucloxacillin; aggressive Pseudomonas eradication
CREON (pancreatic enzymes) + ADEK vitamins — pancreatic insufficiency
CFTR modulators (e.g. ivacaftor/lumacaftor) — mutation-specific, transformative
Dornase alfa, hypertonic saline — mucolytics

Key points

Sweat test (chloride >60) confirms after a positive newborn screen. Pseudomonas colonisation is a turning point. CFTR modulators have transformed prognosis.

Monitor & prognosis

Lung function, sputum microbiology, growth/nutrition, glucose, liver.

Markedly improved; median survival now into 40s–50s and rising with modulators.

Source: NICE NG78; CF Trust