Cystic Fibrosis in Children and Adults

Question 1

What type of inheritance is CF

Answer 1

Autosomal recessive

Question 2

What is the gene prevalence of CF

Answer 2

1:25

Question 3

Where does the CF gene lie

Answer 3

Long arm of chromosome 7

Question 4

What does the CFTR gene do

Answer 4

Provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator that acts as a channel across membrane of cells that produce mucous, sweat, saliva, tears and digestive enzymes

Question 5

How many known mutations are there and how many are associated with CF

Answer 5

> 2000

30

Question 6

How many classes of mutations are there

Answer 6

6

Question 7

Class I

Answer 7

No synthesis

G542X

Question 8

Class II

Answer 8

Block in processing

F508del

Question 9

Class III

Answer 9

Block in regulation

G551D

Question 10

Class IV

Answer 10

Altered conductance
R117H
D1152H

Question 11

Class V

Answer 11

Reduced synthesis
3849+ 10kbC –>T
5T
A455E

Question 12

What is the most common mutation

Answer 12

Class II

phe508del

Question 13

Functions of CFTR

Answer 13

Active transport of chloride

Regulates liquid volume on epithelial surface

Question 14

Neonatal Screening for Cystic Fibrosis

Answer 14

Guthrie test (blood spot day 5)
Screen positive referred for clinical assessment and sweat test

Question 15

Diagnosis

Answer 15

Clinical assessment
Sweat test
Repeat CF mutation analysis

Question 16

Why is there high Cl- in patients with CF

Answer 16

Dysfunctional CFTR channel that doesn’t allow ions to pass through

Question 17

Why is there a pancreatic insufficiency in CF patients

Answer 17

Mucous build up can block the cells from secreting key compounds such as the nutrient and fat-metabolising enzymes from the pancreas

Question 18

Antenatal screening (3)

Answer 18

Pre-implantation genetic diagnosis
Chorionic villus sampling
Amniocentesis

Question 19

Management of CF (5)

Answer 19

Multi-organ disease
Specialist MDT
Primary care
Surveillance
Early treatment of infection

Question 20

Two cardinal features of CF

Answer 20

Pancreatic insufficiency

Failure to thrive

Question 21

What are the features of pancreatic insufficiency

Answer 21

Pale or orange stools
Very offensive
Greasy or oily

Question 22

Treatment for pancreatic insufficiency (3)

Answer 22

Enteric coated enzyme pellets
High energy diet- low in fat
Fat soluble vitamin and mineral supplements

Question 23

Cycle of CF lung disease (4)

Answer 23

Infection
Increased inflammation
Fibrosis/scarring/bronchiectasis
Mucous obstruction

Question 24

Therapeutic targets for:
Infection
Increased inflammation
Fibrosis/scarring/bronchiectasis
Mucus obstruction

Answer 24

Antibiotics
Azithromycin
Airway clearance physiotherapy, Dornase alfa and hypertonic solution

Question 25

Respiratory Pathogens in CF (2)

Answer 25

Staph. aureus | H. influenzae

Question 26

Pre-infection precautions (6)

Answer 26

``` Segregation Airway clearance and adjuncts Mucolytics Prophylactic antibiotics Annual influenza vaccinations Reduce inflammation: Ibuprofen, Azithromycin, Prednisolone ```

Question 27

CFTR modulator treatment (3)

Answer 27

Gene therapy Gene editing Triple combination therapy

Question 28

Other complications (GI)

Answer 28

``` Dysmotility Meconium ileus Gastro-oesophageal reflux Distal intestinal obstruction Constipation/rectal prolapse Crohn's Coeliac ```

Question 29

Other complications (8)

Answer 29

``` Hepatopathy Upper airway polyps and sinusitis Diabetes Osteopenia Arthropathy Heat exhaustion Bilateral absence of vas deferens Vaginal candidiasis ```

Question 30

Fertility Issues (2)

Answer 30

Puberty may occur later | Men- blocked or absent vas deferens

Question 31

Male fertility issue options (3)

Answer 31

Adoption Artificial insemination Intra-cytoplasmic injections

Question 32

Lung transplant issues (2)

Answer 32

last resort treatment | Not miracle cure

Question 33

Severe patients experience (5)

Answer 33

``` FEV1 <30% Weight loss Hypoxia Hypercapnia Recurrent worsening sepsis ```

Question 34

Contra-indications for lung transplant (9)

Answer 34

``` Organ failure Malignancy within 5 years Peripheral vascular disease Drug, nicotine or alcohol dependency Active systemic infection Steroids >20mg Osteoporosis Low BMI Surgical risks ```