cystic fibrosis in children and adults

Question 1

what is the commonest inherited, life-shortening, disorder amongst N. European populations?

Answer 1

cystic fibrosis

Question 2

is cystic fibrosis recessive or dominant

Answer 2

recessive

Question 3

what is the gene prevalence of cystic fibrosis?

Answer 3

1:25

Question 4

which chromosome does the cystic fibrosis gene lie on?

Answer 4

7

Question 5

what is the function of cystic fibrosis transmembrane conductance regulator (CFTR)

Answer 5

Cilial collapse
Active transport channel for chloride (HCO3)
Regulates liquid volume on epithelial surface
Reduced chloride (HCO3) efflux
Increased sodium influx via ENaC
Excessive, innate inflammation
Thick, sticky mucus

Question 6

making a diagnosis with cystic fibrosis?

Answer 6

clinical assessement
sweat test (chloride)
repeat CF mutation analysis

Question 7

whats the management for people with cystic fibrosis?

Answer 7

Multi-organ disease
Specialist multi-disciplinary team (improved long-term outcome)
Physician
Nurse specialist
Physiotherapist
Dietitian
Psychologist
Pharmacist
Lung function physiologist/technician
Microbiologist
Other “ologists” e.g. Diabetes MDT
Shared care with local clinics
Primary care
Surveillance 
Early treatment of infection

Question 8

how many classes of CFTR mutations are there?

Answer 8

6

Question 9

what are presenting features in neonatals for cf?

Answer 9

screening

mec ileus

Question 10

what are presenting features in infants and children in cf?

Answer 10

recurrent chest infections

failure to thrive

Question 11

what are presenting features in older children and adults that have cf?

Answer 11

Recurrent chest infections
Nasal polyps and sinusitis
Male infertility

Question 12

whats the treatment of pancreatic insufficiency?

Answer 12

Enteric coated enzyme pellets¶
High energy diet
Not low fat
Fat-soluble vitamin and mineral supplements

Question 13

what are the common organisms in CF?

Answer 13

Staphylococcus aureus and Haemophilus influenzae in early years
Pseudomonas aeruginosa later

Question 14

what drugs will reduce inflammation of CF?

Answer 14

(Ibuprofen*)
Azithromycin¶
(Prednisolone)

Question 15

how do you prevent infection?

Answer 15

segregation to prevent cross infection
airway clearance and adjuncts
mucolytics
prophylactic antibiotics 
annual influenza vaccination

Question 16

what are complications of CF?

Answer 16

GI
Dysmotility
Meconium ileus

Co-existent disease

Hepatopathy (~5-10%)

Upper airway polyps and sinusitis
Dysglycaemia (diabetes)

Bones disease

heat exhaustion

vaginal candidias

Question 17

what does CF have on impacting a person on child and family?

Answer 17

barriers to making friends
increased depression
low adherence to time-consuming treatments
siblings
increased costs to family

Question 18

what manages multi- organ disease best?

Answer 18

MDT

Question 19

how does CF impact a child making friends

Answer 19

cough
missing school
different dietry requirements
taking drugs

Question 20

how does pancreatic insufficiency affect stools?

Answer 20

abnormal stools- pale or orange

greasy or oily

Question 21

what are the effects of pancreatic insufficiency

Answer 21

abnormal stools

failure to thrive

Question 22

what are the two cardinal features of CF?

Answer 22

recurrent bronchopulmonary infection

pancreatic insufficiency

Question 23

what are the effects of recurrent bronchopulmonary infection?

Answer 23

Pneumonitis
Bronchiectasis
Scarring
Abscesses