Cystic Fibrosis

CF affects about 1 in 2500 live births in the UK. This is an Autosomal Recessive genetic disorder affecting cystic fibrosis transmembrane conductance regulator (CFTR) gene due to mutations on chromosome 7.

 

Defective CFTR protein reduces mucociliary clearance and increases viscosity of secretions.  This causes frequent bronchopulmonary infections, reduces exocrine pancreatic function and infertility in men.

Presentation

Neonates:

– Meconium ileus (causing intestinal obstruction)

– Prolonged jaundice after birth

– Failure to thrive

 

Childhood

– Recurrent LRTI/ wheeze

– Rectal prolapse

– Failure to thrive

– Nasal polyps

– Chronic diarrhoea and malabsorption

 

Adolescence

– RESP: Bronchiectasis, Pneumothorax, Sinusitis, Haemoptysis, Allergic Broncho-Pulmonary Aspergillosis

– GIT: Chronic diarrhoea, Malabsorption, Cirrhosis of Liver, Distal intestinal obstruction, Portal Hypertension

– OTHER: Male infertility, Diabetes Mellitus, Arthropathy, Osteoporosis, Psychological issues.

 

Investigations

– Newborn universal screening in the UK since 2007 (heel-prick on day 5)

– Sweat test with high Chloride > 60 mmol/L

– Reduced faecal 

– Chest x-ray showing bilateral hyperinflation, infiltrates and cysts

– Spirometry shows obstructive pattern with reduced FVC

– CFTR gene mutation analysis

 

Management

Specialist clinics within the UK with annual multi-system review

Recurrent chest infections

– Start antibiotics early for infective exacerbations

– Cover for S aureus, H influenza with oral or IV antibiotics

– Pseudomonas eradication including nebulised Colistin

– Influenza vaccine

– Chest physiotherapy with percussion, deep breathing, postural drainage, flutter devices, inhaled mucolytics and bronchodilators

GIT health

– Pancreatic enzyme replacement (Creon) orally

– High calorie meals

– Multivitamins, Vit E, Vit K, salts

NICE guideline. Cystic fibrosis: diagnosis and management 2017

 

Lahiri T, Hempstead SE, Brady C, et al. Clinical practice guidelines from the Cystic Fibrosis Foundation for preschoolers with cystic fibrosis. Pediatrics. 2016;137(4):e20151784.

 

Borowitz D, Robinson KA, Rosenfeld M, et al. Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. J Pediatr. 2009;155(6 suppl):S73-S93.