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Respiratory System > Cystic Fibrosis in Children and Adults > Flashcards

Cystic Fibrosis in Children and Adults Flashcards

1
Q

What type of inheritance is CF

A

Autosomal recessive

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2
Q

What is the gene prevalence of CF

A

1:25

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3
Q

Where does the CF gene lie

A

Long arm of chromosome 7

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4
Q

What does the CFTR gene do

A

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

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5
Q

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

A

> 2000

30

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6
Q

How many classes of mutations are there

A

6

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7
Q

Class I

A

No synthesis

G542X

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8
Q

Class II

A

Block in processing

F508del

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9
Q

Class III

A

Block in regulation

G551D

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10
Q

Class IV

A

Altered conductance
R117H
D1152H

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11
Q

Class V

A

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

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12
Q

What is the most common mutation

A

Class II

phe508del

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13
Q

Functions of CFTR

A

Active transport of chloride

Regulates liquid volume on epithelial surface

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14
Q

Neonatal Screening for Cystic Fibrosis

A 
Guthrie test (blood spot day 5)
Screen positive referred for clinical assessment and sweat test
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15
Q

Diagnosis

A

Clinical assessment
Sweat test
Repeat CF mutation analysis

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16
Q

Why is there high Cl- in patients with CF

A

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

17
Q

Why is there a pancreatic insufficiency in CF patients

A

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

18
Q

Antenatal screening (3)

A

Pre-implantation genetic diagnosis
Chorionic villus sampling
Amniocentesis

19
Q

Management of CF (5)

A 
Multi-organ disease
Specialist MDT
Primary care
Surveillance
Early treatment of infection
20
Q

Two cardinal features of CF

A

Pancreatic insufficiency

Failure to thrive

21
Q

What are the features of pancreatic insufficiency

A

Pale or orange stools
Very offensive
Greasy or oily

22
Q

Treatment for pancreatic insufficiency (3)

A

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

23
Q

Cycle of CF lung disease (4)

A

Infection
Increased inflammation
Fibrosis/scarring/bronchiectasis
Mucous obstruction

24
Q 
Therapeutic targets for:
Infection
Increased inflammation
Fibrosis/scarring/bronchiectasis
Mucus obstruction
A

Antibiotics
Azithromycin
Airway clearance physiotherapy, Dornase alfa and hypertonic solution

25
Q

Respiratory Pathogens in CF (2)

A

Staph. aureus

H. influenzae

26
Q

Pre-infection precautions (6)

A 
Segregation
Airway clearance and adjuncts
Mucolytics
Prophylactic antibiotics
Annual influenza vaccinations
Reduce inflammation: Ibuprofen, Azithromycin, Prednisolone
27
Q

CFTR modulator treatment (3)

A

Gene therapy
Gene editing
Triple combination therapy

28
Q

Other complications (GI)

A 
Dysmotility
Meconium ileus
Gastro-oesophageal reflux
Distal intestinal obstruction
Constipation/rectal prolapse 
Crohn's Coeliac
29
Q

Other complications (8)

A 
Hepatopathy
Upper airway polyps and sinusitis
Diabetes
Osteopenia
Arthropathy
Heat exhaustion
Bilateral absence of vas deferens
Vaginal candidiasis
30
Q

Fertility Issues (2)

A

Puberty may occur later

Men- blocked or absent vas deferens

31
Q

Male fertility issue options (3)

A

Adoption
Artificial insemination
Intra-cytoplasmic injections

32
Q

Lung transplant issues (2)

A

last resort treatment

Not miracle cure

33
Q

Severe patients experience (5)

A 
FEV1 <30%
Weight loss
Hypoxia
Hypercapnia
Recurrent worsening sepsis
34
Q

Contra-indications for lung transplant (9)

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

Respiratory System (30 decks)

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