Cystic Fibrosis

Question 1

what?

Answer 1

life threatening autosomal recessive disease

Question 2

caused by?

Answer 2

mutation of CFTR gene on chromosome T

Question 3

pathology

Answer 3

defect leads to defective chloride secretion and increase sodium absorption across airway epithelium

Question 4

neonate clinical features

Answer 4

1. failure to thrive
2. meconium ileus
3. rectal prolapse

Question 5

children and young people clinical features

Answer 5

1. cough
2. wheeze
3. recurrent infections
4. bronchiectasis
5. pneumothorax
6. haemoptysis
7. rest failure
8. cor pulmonale

Question 6

signs

Answer 6

1. finger clubbing
2. bilateral coarse crepitations
3. cyanosis

Question 7

diagnosis

Answer 7

1. sweat test: sweat sodium and chloride

2. genetics

Question 8

tests

Answer 8

1. bloods: FBC, U&E, LFT, vitamin A,D,E
2. bacteriology: cough swab, sputum culture
3. CXR: hyperinflation, bronchiectasis