Cystic Fibrosis
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Definition Aetiology Pathophysiology Risk factor Sign and Symptoms Investigations Management
Definition
Cystic fibrosis (CF) is a hereditary disease that affects a number of organs and results in the buildup of thick mucus in various parts of the body.
Aetiology
Mutations in the CF transmembrane conductance regulator (CFTR) gene. This is an autosomal recessive condition.
Pathophysiology
Abnormality in the CFTR gene > ion transport defect > build of mucus in pancreas, GI, lungs, bile duct.
Risk factors
Family history of CF.
Sign and symptoms
Recurrent lower respiratory tract infection (LRTI) + sputum production.
Wheezing.
Coughing.
Shortness of breath.
Failure to thrive.
Jaundice.
Diarrhoea and/or constipation.
O/E: finger clubbing, wheeze, crepitation on auscultation.
Diagnosis and investigations
Sweat test.
CXR / CT thorax.
Genetic testing for CFTR gene.
Lung function test.
Sputum culture.
Routine bloods: FBC, U&Es, Hba1c, LFTs and D.
Management
No cure, only symptoms relieve.
Antibiotics treatment for chest infection.
Specialist treatment.
Chest physiotherapy.
In severe cases lung transplant may be considered.
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