Cystic Fibrosis

Question 1

Cause of CF?

Answer 1

Cystic Fibrosis (CF) is an autosomal recessive condition caused by a mutation in chromosome 7 at the CF transmembrane conductance regulator (CFTR) gene. The result of this mutation is increased sodium absorption and abnormal chloride secretion in the epithelial cells lining the airways. This leads to thicker mucus impairing the function of cilia.

Question 2

How is CF diagnosed?

Answer 2

Neonatal heel prick between days 5 and 9.
Sweat sodium and chloride above 60mmol/l.
Genetic screening

Question 3

Conservative management?

Answer 3

Education about the condition

Fertility and genetic counselling

Dietician

Psychosocial counselling

Chest physiotherapy: postural drainage and active cycle breathing techniques

Screening for complications of Cystic Fibrosis such as osteoporosis

Question 4

Medical management?

Answer 4

Infective exacerbations are treated with:

antibiotics, although for patients with recurrent chest infections prophylactic long-term antibiotics may be prescribed.

Nebulised mucolytics (Dornase Alfa)

Bronchodilators (Inhaled corticosteroids or B2-agonists)

Pancreatic insufficiency is treated with:

Insulin replacement regime

Exocrine enzymatic replacement (Creon)

Vitamin A, D, E, K

Abnormal liver function/ deranged liver function tests are treated with:

Ursodeoxycholic acid
Worsening progressive lung disease is treated with:

Oxygen

Non invasive ventilation

Diuretics if signs of cor pulmonale