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2. Respiratory Medicine (Lectures) > Cystic Fibrosis > Flashcards

Cystic Fibrosis Flashcards

1
Q

Inheritance of CF

A

Autosomal recessive

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2
Q

Gene prevalence of CF

A

1:25

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3
Q

Features of CF gene

A

Lies on chromosome 7
Cystic fibrosis transmembrane conductance regulator (CFTR)
>1800 mutations

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4
Q

Function of CFTR

A

Active transport channel for chloride
- regulates liquid volume on epithelial surface (reduced chloride efflux and increased sodium influx via ENaC)
- cilia collapse
- excessive inflammation

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5
Q

Presentation of CF antenatally

A

CVS
Echogenic bowel
Perforated meconium ileus

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6
Q

Presentation of CF neonatally

A

Picked up by screening
Meconium ileus (10%)
Gut atresia
Obstructive jaundice
Vitamin deficiencies

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7
Q

Presentation of CF in infants and children

A

Recurrent chest infections
FTT
Rectal prolapse
Pseudo-barters syndrome
Anaemia
Oedema
Hypoproteinaemia

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8
Q

Presentation of CF in older children and adults

A

Recurrent chest infections
Nasal polyps
Sinusitis
Male infertility
AP
Liver disease
Pseudobartters
Atypical mycobacteria

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9
Q

When is CF screened for and what is done?

A

Newborn blood spot day 5 (Guthrie test)
Initial screen = immune-reactive trypsinogen
If +ve = mutation analysis performed
Screen +ve referred to a sweat test

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10
Q

What sweat chloride level is indicative of CF?

A

> 60

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11
Q

What level of chloride sweat levels indicate CF is unlikely?

A

> 29 (>39 if 6 months)

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12
Q

What are the two cardinal features of CF?

A

Pancreatic insuffiency
Recurrent bronchopulmonary infection

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13
Q

Presentation of CF in terms of pancreatic insuffiency

A

Abnormal stools
- pale / orange
- very offensive
- greasy / oily
FTT
- may thrive well on breastmilk
- deficiencies of fat soluble vitamins

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14
Q

Treatment of pancreatic insufficiency

A

Enteric coated enzyme pellets
High energy diet
Fat soluble vitamins and mineral supplements
H2 antagonist or PPI

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15
Q

Examples of consequences of recurrent bronchopulmonary infections in CF

A

Pneumonitits
Bronchiectasis
Scarring
Abscess

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16
Q

Management of CF in early years

A

Pre infection
- segregation to prevent cross infection
- airway clearance and adjuncts
- mucolytics
- prophylactic Ax (against staph A)
- annual flu vaccine
Eradication of early infection (80-90%)

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17
Q

Common organisms causing resp problems in CF

A

Early years
- staph A
- H. influenzae
Later on
- pseudomonas aeurginosa

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18
Q

Less common organisms causing resp problems in CF

A

Burkholderia cepacian
Stenotrophomonas maltophilia
Alcaligenes xylosoxidans
Atypical mycobacteria e.g. M abscessus

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19
Q

What usually causes the chronic resp tract infections?

A

Pseudomonas
Staph A
Haemophilus I

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20
Q

Treatment of chronic resp tract infections in CF

A

Treat infective exacerbations
Reduce inflammation
- ibuprofen (symptomatic)
- azithromycin
- prednisolone
Suppress bacterial load

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21
Q

GI manifestations of CF

A

Dysmotility
- meconium ileus
- GORD
- distal intestinal obstruction
- constipation / rectal prolapse
Co existent disease
- crohns and coeliac

22
Q

Other manifestations of CF

A

Meconium ileus
GORD
Distal intestinal obstruction
Constipation / rectal prolapse
Hepatopathy
Upper airway polyps and sinusitis
DM
Osteopenia
Arthropathy
Heat exhaustion
Bilateral absence of vas deferens
Vaginal candidiasis (stress incontinence)

23
Q

Cornerstones of CF treatment

A

Proactive treatment of airway infection
Good nutrition
Active lifestyle

24
Q

Airway clearance techniques

A

Percussion and drainage
Autogenic drainage
Active cycle of breathing

25
Airway clearance adjuncts
Positive expiratory pressure (PEP) mask Cornet/flutter High frequency chest wall oscillation
26
Why is sputum viscosity increased in CF?
Due to DNA released from neutrophils
27
Mucolytic examples
DN-ase (alfadornase) Hypertonic saline
28
Types of problems in adult CF
80% recurrent pulmonary and pancreatic infections 15% recurrent pulmonary infections 5% GI problems only DM, Liver, Osteoporosis, fertility issues
29
What does the CFTR abnormality lead to?
Decreased mucociliary clearance Increased bacterial adherence Decreased endocytosis of bacteria
30
Pathology of persistent resp tract infections in CF
Decreased mucociliary clearance Increase in bacterial adherence Decreased endocytosis of bacteria Aggressive progressive bronchiectasis - chronic purulent sputum production Recurrent lower resp tract infections Progressive airflow obstruction Resp failure
31
What is type I resp failure?
Decreased Pa02
32
What is type II resp failure?
Decreased PaO2 and increased PaCO2
33
Is haemoptysis common and what is it associated with?
Yes, associated with infection
34
Who are pneumothorax common in?
Older males
35
How do the patients catch pseudomonas aeruginosa?
Environment (particularly hospitals) Other CF patients (epidemic strains, antibiotic resistance, virulent)
36
Treatment of pseudomonas aeruginosa in CF patients
1. oral ciprofloxacin and nebulised colomycin 3 months 2. If fails IV ceftazidime and nebulised colomycin
37
Where is bukholderia cepacia acquired from?
Environmental Other CF patients (epidemic strains more virulent)
38
What bacterial infection in CF patients is a contraindication for transplantation?
Mycobacterium abscessus
39
Which organisms get oral antibiotics?
Staph Haemophilus Pneumoccocus
40
What organisms get IV antibiotics?
Pseudomonas Stentrophonomas Burkholderia
41
What is the drug that addresses the primary defect in CF?
Ivacaftor
42
Treatment of CF
Airway clearance techniques and adjuncts Mucolytics Early and aggressive Antibiotics Ivacaftor Lung transplantation
43
How does ivacaftor work?
CFTR potentiator, binds to CFTR, improves the transport of chloride ions
44
What patients can use ivacaftor and what % of patients is this?
G551D patients 5 - 10%
45
Features of ivacaftor
Improves lung function 10% predicted Reduces sweat chloride Feel much better
46
S/E of ivacaftor
Weight gain
47
What kind of lung transplant must be carried out in CF?
Double lung transplant
48
Indications for double lung transplant in CF
Rapidly deteriorating lung function FEV1 < 30% predicted Life threatening exacerbations Estimated survival < 2 years
49
Survival of a lung transplant at 5 and 10 years
5 - 70 - 80% 10 - 50%
50
Features of pseudo barters syndrome
Metabolic alkalosis Hypokalaemia Hyperaldosteronism Hyperrenism Normal BP Juxtaglomerular apparatus hyperplasia

2. Respiratory Medicine (Lectures) (50 decks)

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