Cystic Fibrosis

Question 1

what is CF caused by (mutation) and the pathophysiology

Answer 1

mutation in CFTR gene on chromosome 7 which is a Cl- channel leads to defective chloride secretion and increased Na+ absorption across epithelium. predisposes to chronic infections and bronchiectasis

Question 2

features in neonate

Answer 2

failure to thrive, meconium ileus, rectal prolapse

Question 3

features in children and young adults- respiratory

Answer 3

resp- cough, wheeze, infections, bronchiectasis, pneumothorax, haemoptysis, resp failure, cor pulmonale

Question 4

features in children and young adults- gastro

Answer 4

pancreatic insufficiency (DM, steatorrhea), distal intestinal obstruction syndrome, gallstones, cirrhosis

Question 5

features in children and young adults- other

Answer 5

male infertility, osteoporosis, arthritis, vasculitis, nasal polyps, sinusitis, HPOA

Question 6

signs of CF in children and young adults

Answer 6

cyanosis, clubbing, bilateral coarse crackles

Question 7

diagnosis

Answer 7

sweat test- sodium and chloride >60mmol/L, chloride usually > sodium. genetic screening; faecal elastase (test exocrine pancreatic dysfunction)

Question 8

tests

Answer 8

blood (FBC, U&E, LFT, clotting, vit A,D,E levels, glucose tolerance every year). CXR; abdo ultrasound; spirometry (obstructive defect); aspergillus test; biochem- faecal fat analysis

Question 9

what does the CXR show

Answer 9

hyperinflation, bronchiectasis

Question 10

what would the abdo ultrasound show

Answer 10

fatty liver, cirrhosis, chronic pancreatitis