Cystic Fibrosis

Question 1

Is CF autosomal dominant or recessive?

Answer 1

Recessive

Question 2

What is the carrier rate for CF?

Answer 2

1 in 25

Question 3

Where is the CF gene located?

Answer 3

Long arm of chromosome 7

Question 4

What does a mutation in the CF gene cause (on a cellular level)

Answer 4

Abnormalities in the production of the CFTR protein

Question 5

What does the CFTR protein stand for?

Answer 5

Cystic fibrosis Transmembrane Conductance Regulator

Question 6

What kind of channel is CFTR and where is it located?

Answer 6

Chloride channel

Apical membrane of epithelial cells

Question 7

What is the most common mutation of the CF gene?

Answer 7

F508 del

Question 8

The CFTR channel stimulates the ____ channel, which facilitates __ ____.

Answer 8

ORCC

Cl- efflux

Question 9

The CFTR channel inhibits the ____ channel, which facilitates __ _____ .

Answer 9

ENAC

Na+ infflux

Question 10

Currently, how are people diagnosed with CF?

Answer 10

Heel prick test in new borns

Measures the immunoreactive trypsinogen

Question 11

If a CF patient is not picked up via the heel-prick test, what are the 3 ways in which they can be diagnosed?

Answer 11

History of common clinical features
CFTR functional testing
Genetic testing

Question 12

What is the CFTR functional test used in CF diagnosis?

Answer 12

Sweat test - pilocarpine iontophoresis

Measures the Cl- conc in sweat - raised in CF

Question 13

What are the 3 managements for the pulmonary disease caused by CF?

Answer 13

Airway clearance techniques (such as physio)
Nebulised therapy
Anti-inflammatories

Question 14

What are the 2 nebulised therapies for CF and what do they do?

Answer 14

Hypertonic saline - draws water out into mucus

Mannitol - increased mucociliary clearance

Question 15

What is the common anti-inflammatory given to CF patients?

Answer 15

Azithromycin

Question 16

What is the prophylactic management of CT?

Answer 16

Antibiotics

Question 17

Why does CF result in digestive failure?

Answer 17

The pancreas is unable to secrete lipase and amylase

Question 18

What is the treatment for exocrine failure of the pancreas in CF?

Answer 18

CREON

Question 19

What are the 2 components of the endocrine dysfunction in CF?

Answer 19

Islet cell destruction

Fatty replacement of pancreatic tissue

Question 20

Ultimately, what does pancreatic dysfunction in CF patients cause?

Answer 20

Diabetes

Question 21

What is the common bowel side effect of CF?

Answer 21

Distal intestinal obstruction syndrome

Question 22

How is Distal Intestinal Obstruction Syndrome caused?

Answer 22

Thick mucus blocks the small and large intestine

Question 23

What can distal intestinal obstruction syndrome present like?

Answer 23

Constipation

Question 24

What are the 3 treatments for distal intestinal obstruction syndrome?

Answer 24

Gastrogaffin (laxative)
Laxido
Fluids

Question 25

What are the 3 components of prevention of distal intestinal obstruction syndrome?

Answer 25

Laxido Hydration Exercise

Question 26

What is the main hepatic consequence of CF and why does it occur?

Answer 26

Portal hypertension | Due sticky bile clogging the bile ducts

Question 27

What are the 2 complications of CF induced portal hypertension?

Answer 27

Variceal bleeding | Hepatic encephalopathy

Question 28

What treatment can be done for the CF induced portal hypertension?

Answer 28

TIPSS

Question 29

What is the positive and negative of doing a TIPSS in a CF patient?

Answer 29

Reduces bleeding risk, but increases encephalopathy risk

Question 30

What symptom is very common in CF patients with hepatic problems?

Answer 30

Steatorrhoea

Question 31

Why do you always treat CF exacerbations with 2 antibiotics?

Answer 31

To reduce resistance

Question 32

What antibiotic treatment is often offered to CF patients with infective exacerbations?

Answer 32

OHPAT - out patient and home parenteral antibiotic treatment

Question 33

How long is spent in hospital and how long is spent at home in OHPAT?

Answer 33

2 weeks in hospital, 2 weeks at home

Question 34

What are the 4 components to treatment of a CF exacerbation?

Answer 34

Antibiotics (always 2) Physiotherapy Adequate hydration Increased dietary input

Question 35

What is the new drug that can improve CFTR function?

Answer 35

Ivacafor

Question 36

What kind of CF patients does ivacafor work in?

Answer 36

Those with a G551D mutation

Question 37

What is the disadvantage of Ivacafor?

Answer 37

Very expensive