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Respiratory Pathology > 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
Q

Airway clearance adjuncts

A

Positive expiratory pressure (PEP) mask
Cornet/flutter
High frequency chest wall oscillation

26
Q

Why is sputum viscosity increased in CF?

A

Due to DNA released from neutrophils

27
Q

Mucolytic examples

A

DN-ase (alfadornase)

Hypertonic saline

28
Q

Types of problems in adult CF

A

80% recurrent pulmonary and pancreatic infections
15% recurrent pulmonary infections
5% GI problems only
DM, Liver, Osteoporosis, fertility issues

29
Q

What does the CFTR abnormality lead to?

A

Decreased mucociliary clearance
Increased bacterial adherence
Decreased endocytosis of bacteria

30
Q

Pathology of persistent resp tract infections in CF

A 
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
Q

What is type I resp failure?

A

Decreased Pa02

32
Q

What is type II resp failure?

A

Decreased PaO2 and increased PaCO2

33
Q

Is haemoptysis common and what is it associated with?

A

Yes, associated with infection

34
Q

Who are pneumothorax common in?

A

Older males

35
Q

How do the patients catch pseudomonas aeruginosa?

A

Environment (particularly hospitals)

Other CF patients (epidemic strains, antibiotic resistance, virulent)

36
Q

Treatment of pseudomonas aeruginosa in CF patients

A
  1. oral ciprofloxacin and nebulised colomycin 3 months

2. If fails IV ceftazidime and nebulised colomycin

37
Q

Where is bukholderia cepacia acquired from?

A

Environmental

Other CF patients (epidemic strains more virulent)

38
Q

What bacterial infection in CF patients is a contraindication for transplantation?

A

Mycobacterium abscessus

39
Q

Which organisms get oral antibiotics?

A

Staph
Haemophilus
Pneumoccocus

40
Q

What organisms get IV antibiotics?

A

Pseudomonas
Stentrophonomas
Burkholderia

41
Q

What is the drug that addresses the primary defect in CF?

A

Ivacaftor

42
Q

Treatment of CF

A 
Airway clearance techniques and adjuncts
Mucolytics
Early and aggressive Antibiotics
Ivacaftor 
Lung transplantation
43
Q

How does ivacaftor work?

A

CFTR potentiator, binds to CFTR, improves the transport of chloride ions

44
Q

What patients can use ivacaftor and what % of patients is this?

A

G551D patients

5 - 10%

45
Q

Features of ivacaftor

A

Improves lung function 10% predicted
Reduces sweat chloride
Feel much better

46
Q

S/E of ivacaftor

A

Weight gain

47
Q

What kind of lung transplant must be carried out in CF?

A

Double lung transplant

48
Q

Indications for double lung transplant in CF

A

Rapidly deteriorating lung function
FEV1 < 30% predicted
Life threatening exacerbations
Estimated survival < 2 years

49
Q

Survival of a lung transplant at 5 and 10 years

A

5 - 70 - 80%

10 - 50%

50
Q

Features of pseudo barters syndrome

A 
Metabolic alkalosis
Hypokalaemia
Hyperaldosteronism 
Hyperrenism 
Normal BP
Juxtaglomerular apparatus hyperplasia

Respiratory Pathology (16 decks)

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