Child Respiratory Diseases

Question 1

What is the prevalence of cystic fibrosis?

Answer 1

1/2415- life expectancy is inc

Question 2

what are the 6 classes of CF?

Answer 2

1. Protein synthesis defect (no CFTR)
2. Folding defect (protein doesn’t reach apical membrane)
3. Gating defect
4. Conductance impairment
5. splicing defect
6. reduced stability

Question 3

what specific mutation is an example of a folding defect?

Answer 3

F508del

Question 4

True/False:

G551D is an example of a splicing defect?

Answer 4

False:

example of a gating defect

Question 5

What is CF?

Answer 5

defect to the CFTR gene resulting in inc mucus secretion causing difficulty breathing

Question 6

What chromosome is mutated in the CFTR gene?

Answer 6

chromosome 7

Question 7

What is the CFTR protein?

Answer 7

chloride ion channel

Question 8

True/False:

F508del mutation is the most common in CF patients?

Answer 8

True

Question 9

What does the CFTR mutation cause?

Answer 9

reduced Cl- secretion so inc Na+ & H2O reabsorption making secretions thick= mucus stasis = recurrent infection = bronchiectasis

Question 10

What are symptoms of CF?

Answer 10

salty sweat, failure to thrive, chronic cough and sputum production, dyspnoea, nasal polyps, haemoptysis, pneumothorax, DIOS

Question 11

How do CF patients usually present?

Answer 11

recurrent chest infections, upper lobe bronchitis, infertile, low weight, osteoporosis

Question 12

What are the Ix for CF…

Answer 12

neonatal heel prick test, CFTR functional testing, HRCT, sweat test

Question 13

What are worrying results for a sweat test?

Answer 13

Na & Cl >60mM

Question 14

What are detection measures for CF?

Answer 14

family screening, genetic testing, bronchiectasis service

Question 15

What is the tx for CF…

Answer 15

airway clearance, nebulized therapy (rhDNase), anti-inflammatory treatment

Question 16

How do u treat exacerbations of CF..

Answer 16

IV antibis (flucloxacillin), physio, dietary input

Question 17

How to treat advance CF…

Answer 17

O2, lung transplant, diuretics, NIV (non-invasive mechanical ventilation)

Question 18

what are CF complications?

Answer 18

pancreatic insufficiency, diabetes, liver disease, male infertility

Question 19

What is the median survival for CF patients now?

Answer 19

36 years

Question 20

What is stridor?

Answer 20

Inspiratory wheeze due to large airway obstruction

Question 21

what are the large airways?

Answer 21

larynx, trachea, bronchi

Question 22

what are the causes of stridor?

Answer 22

child: infections, anaphylaxis, foreign bodies
adults: tumours, anaphylaxis, foreign bodies, trauma, tracheomalacia

Question 23

What is tracheomalacia?

Answer 23

destruction of cartilage in airways

Question 24

True/False:

anaphylaxis is type 2 hypersensitivity?

Answer 24

False

Type 1

Question 25

Signs of anaphylaxis…

Answer 25

flushing, pruritus, urticaria (hives), stridor, wheeze, t1 resp failure

Question 26

common causes of anaphylaxis..

Answer 26

venom, food, drugs

Question 27

Tx for anaphylaxis…

Answer 27

IM adrenaline, IV antihistamine, IV corticosteroids, high O2, nebulised bronchodilators, intubation

Question 28

Long term tx for severe allergies?

Answer 28

antigen avoidance, desensitisation

Question 29

Ix for assessing cause of stridor?

Answer 29

laryngoscopy, bronchoscopy, CXR, CT

Question 30

When should you be cautious about using laryngoscopy for ix?

Answer 30

epiglottitis - may block airway completely and go into respiratory failure

Question 31

tx for stridor?

Answer 31

treat underlying cause, O2, cricothyroidotomy, tracheostomy

Question 32

What other diseases affect mostly neonates/ premature babies?

Answer 32

neonatal RDS, pneumothorax, chronic lung disease, transient tachypnoea, diaphragmatic hernia, tracheooesophageal fistula, choanal atresia
older kids: passive smoking, bronchiolitis (viral infection), croup, CF, asthma, pneumonia

Question 33

What is borderline for a baby to be premature?

Answer 33

23 weeks