Cystic fibrosis

Question 1

Cystic fibrosis is the commonest of all?

Answer 1

inherited disorders

• 1 per 2500 live births

Question 2

Clinical features include:

Answer 2

family history

presents in infancy

meconium ileus in the neonate

recurrent chest infections (cough and wheeze)

failure to thrive

malabsorption

Question 3

Diagnosis:

Answer 3

can be diagnosed antenatally (in utero) neonatal screening

• —CFTR protein

Question 4

Treatment:

Answer 4

oral pancreatic enzyme replacement for malabsorption attention to respiratory problems