Cystic Fibrosis

Question 1

long arm of chromosome…

Answer 1

7

Question 2

protein affected

Answer 2

CFTR

Question 3

most common mutation

Answer 3

deltaF508

Question 4

inheritance pattern

Answer 4

autosomal recessive, doesn’t matter which mutation

Question 5

classic presentation

Answer 5

child 0-2
recurrent infection
offensive stools
failure to thrive

Question 6

symptoms newborn

Answer 6

recurrent infection - HiB, staph aureus, later pseudomonas
malabsorption
meconium ilieus

Question 7

how is mecomeum ileus treated?

Answer 7

N-acetylcysteine/gastrografin enema/ surgery

Question 8

additional symptoms: 0-2years

Answer 8

steatorrhea

prolonged jaundice

Question 9

additional symptoms: 2-8 years

Answer 9

bronchiectasis
rectal prolapse
nasal polyps
sinusitis

Question 10

additional symptoms: 8+

Answer 10

cor pulmonale
DMT2
liver cirrhosis, portal hypertension
distal ileum obstruction
pneumothorax
haemoptysis 
infertility
psychological disorders
cyanosis 
clubbing
osteoporosis

Question 11

investigations

Answer 11

sweat test
abnormal adult >90 mmol/L
abnormal child >60 mmol/L

elastase in faeces - pancreatic insufficiency

immunoreactive trypsin in babies - if positive, genetic screening
sweat test to confirm diagnosis

Question 12

management

Answer 12

physiological
oral pancreatic enzymes
high calorie diet
PPIs
feeding tube
flucoloxacillin - prophylactic
mucolytics -DNAses
nebuliser saline
home oxygen 
CPAP
lung/liver transplant