Cystic Fibrosis Flashcards
What is it?
Autosomal recessive mutation in CFTR gene
What does CFTR do?
Chloride channel
What happens in CF?
What does it lead to as a consequence?
CFTR dysfunctiin leads to reduced fluid flow into airways hence failure of mucus to be cleared.
Recurrent pneumonia as well as bronchiectasis
What happens in the pancreas?
Pancreatic interlobular ducts become clogged with mucus leading to impaired secretion of digestive enxymes and eventually pancreatic destruction.
What about sweat?
Sweat glands have impaired chloride removal therefore the sweat is salty.
Presentation
Lungs Neonatal problem Other GI issues Growth Finger nails Nasal Male specific problem later on in life
Recurrent pneumonia
Neonatal meconium ileus
Steatorrhoea, rectal prolapse, small bowel obstruction, GORD, PUD
Slow growth
Clubbing
Nasal polyps and sinusitis
Infertility due to absence of vas deferens leading to obstructive azoopermia
Differentials
Immunocomprimised - congenital, HIV
TB
Other cause of bronchiectasis
2 tests specific for CF
Imaging
Bedside
Sweat test
Genetic testing showing 2 disease causing mutations
CXR
Pulmonary function test (PFT) - FEV1
Sputum culture
Management
MDT involved
Consultants Nurses Physiotherapists Dieticians Social workers Psychologists
Management
Resp:
Mucus clearance - 2
What about recurrent infections? - 2
What about inflammation? - 2
What if all else fails? - 1
Chest physio - postural drainage
Nebulized mucolytics - hypertonic saline
Prophylactic inhaled tobramycin and long term AB’s
Long term azithromycin or ibuprofen
Bilateral lung transplant
Management
Non-resp:
Pancreatic insufficiency
Nasal polyps
Enteric-coated pancreatic enzymes before meals
Steroids or surgery
Management
Targeted therapy - they help lung function and exacerbation freq - 2
Ivacaftor and lumacaftor - CFTR modulators -
Complications:
Hints:
Lungs
Endocrine
Bones
Liver
What is the prognosis and what can be used to determine it?
Resp failure
Pulomonary HTN
Cor pulmonale
DM
Osteoporosis
Cirrhosis
40-50 years if born today - Lung function tests used - FEV1
