Cystic fibrosis

Question 1

Definition

Answer 1

Autosomal recessive condition

Genetic disorder that causes severe damage to the lungs, digestive system and other organs in the body

Affects the cells that produce mucus, sweat and digestive juices

Question 2

Epidemiology

Answer 2

In patients with CF, 90% the cause of death is respiratory disease

Question 3

Aetiology

Answer 3

Gene mutations form the cystic fibrosis transmembrane conductance regulator (CFTCR) gene
– regulates the movement of salt in and out of the cells

Leads to thick, sticky mucus in the respiratory, digestive, and reproductive systems, as well as increased salt in sweat

Over 1000 mutations have been identified that can cause cystic fibrosis, and most of them are rare

Question 4

risk factors

Answer 4

Family history (as its genetic)

Question 5

Clinical presentation

Answer 5

Pancreatic insufficiency occurs in the majority of patients

Respiratory:
– recurrent respiratory infection
– chronic daily cough and sputum production
– breathlessness
– nasal polyps
– haemoptysis
– respiratory failure
– wheezing
– recurrent sinusitis
– exercise intolerance
– stuffy nose

GI:
– foul smelling, greasy stools
– poor weight gain and growth
– intestinal blockage, particularly in newborns
– chronic or severe constipation
– increased risk of GI malignancy

Other:
– CF-related diabetes
– male infertility
– osteoporosis
– arthropathy