Cystic fibrosis

Question 1

genetics of cystic fibrosis

Answer 1

autosomal recessive disorder (need two mutated genes from parents). most common autosomal recessive in caucasians

Question 2

presenting features of cystic fibrosis

Answer 2

pancreatic insufficiency- malabsorption, abnormal stool, failure to thrive. Recurrent bronchopulmonary infection- pneumonia, bronchiectasis, scarring, abscesses. clubbing

Question 3

options available for antenatal screening for CF

Answer 3

pre implantation genetic diagnosis (one cell tested), chorionic villous sampling (small sample of cells), amniocentesis (amniotic fluid)

Question 4

cystic fibrosis protein

Answer 4

CF occurs due to mutation in the transmembrane conductance regulator protein CFTR which is coded on chromosome 7 so there is abnormal transport of chloride and sodium leading to reduced airways surface liquid and thick sticky mucous as well as impaired bacterial killing via neutrophils

Question 5

options available for neonatal screening for CF

Answer 5

Guthrie test ie bloodiest and then refer for sweat test if positive

Question 6

sweat test

Answer 6

measures the conc of chloride in sweat. elevated in CF

Question 7

management of pancreatic insufficiency in cf

Answer 7

boosting nutrition, replace enzymes (CREON), high energy plus high calorie supplement drinks and diet, fat soluble vitamin and mineral supplements

Question 8

management of chest infection in cf

Answer 8

airway clearance via physio, mucolytics, bronchodilators, antibiotics for infection, azithromycin for inflammation, supportive treatment and management of symptoms for fibrosis and scarring eg oxygen and psychology

Question 9

signs of CF on CT

Answer 9

signet ring, tramlines, consolidation, mucous plugging

Question 10

transplantation

Answer 10

double lung, 30-40% die on waiting list, eligible if estimated survival less than 2 years, fev1 less than 30%, recurrent pneumothorax or haemoptysis, survival increased by 62% at 5 years

Question 11

social, educational and economical impact

Answer 11

barriers of making friends, increased depression snd anxiety, low adherence to time consuming treatments, increased cost for family, transition from children to adult team, wish for family, missing work, media and drug treatment possibility

Question 12

end of life issues

Answer 12

advanced care plans, DNAR discussions, support

Question 13

complications of CF

Answer 13

diabetes type 2 is common, osteoporosis is increased risk because bone mineral density falls, presence of air in cavity between lungs and chest wall causes pneumothorax, haemoptysis