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Respiratory conditions Flashcards

1
Q

Describe the presentation of respiratory distress in children

A

Moderate:

  • Tachypnoea + tachycardia
  • Nasal flaring
  • Grunting
  • Chest well recessions/retractions
  • Use of accessory muscles

Severe:

  • Cyanosis
  • Tiring, shallow breathing (normal PCO2)
  • Drowsiness
  • Sats <92%
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2
Q

What is the difference between intra and extrathoracic airway obstruction in terms of presentation?

A
  • Intrathoracic: worsens on expiration (when the airways are at their smallest) eg. wheeze
  • Extrathoracic: worsens on inspiration (decreased intraluminal pressure) eg. stridor
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3
Q

What is included in the term URTI?

A
  • Coryza (cold)
  • Sinusitis
  • Otitis media
  • Tonsillitis, pharyngitis
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4
Q

Which pathogens are responsible for the common cold? How does it present?
What is the management?

A
  • Viral eg. rhinovirus, RSV, coronaviruses
  • Presents with blocked + runny nose, sneezing, sore throat, etc.
  • Reassurance, explain it will pass in days-weeks
  • Conservative management: fluids, rest, paracetamol
  • Can try: steam inhalation, vapour rub
  • No evidence for cough syrups, etc though can use if you want (in >6s)
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5
Q

Which pathogens are responsible for pharyngitis/tonsillitis? How does it present?

A
  • Sore throat, difficulty swallowing, swelling, erythema, lymphadenopathy, fever, may occur with other URTI symptoms eg. rhinorrhoea
  • Viral common: adenovirus, rhinovirus, EBV, also Group A Strep
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6
Q

How can you distinguish bacterial and viral tonsillitis?

A

Features suggesting bacterial infection:

  • Fever >38
  • Purulent exudate
  • No cough or coryza (viral symptoms)
  • Lymphadenopathy
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7
Q

A 7 year old girl is brought to A&E by her grandmother. Her grandmother reports she has been complaining of a sore throat for the past 2 days and is not eating or drinking because of the pain. She measured her temperature at home as 38.4˚. The girl does not have a cough or cold symptoms, and no rash. What would you do next including management based on the most likely differential.

A
  • Want to take a full history
  • Examine: ENT including inspection of the throat and ears, palpation of the cervical lymph nodes. Also assess for severity of dehydration
  • Vital signs including HR, RR, BP, temp, sats
  • Throat swab for rapid antigen test (Group A Strep)

This sounds like tonsillitis/pharyngitis, which would be confirmed by examination. If this is a possible bacterial origin:

  • Explain diagnosis of tonsillitis
  • Prescribe antibiotics eg. phenoxymethylpenicillin for 10 days (clarithro if penicillin allergy). Should have effect in 24-48 hours. Important to take full course!
  • Encourage rest + fluids, salt water gargle, lozenges
  • Seek medical attention if fever not coming down, difficulty breathing, gets worse
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8
Q

What is considered recurrent tonsillitis?

A

7 in 1 year, 5 in 2 years, 3 in 3 years

-Refer to ENT for tonsillectomy

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9
Q

Group A Streptococcus tonsillitis can result in which complications?

A

Infectious: sinusitis, otitis media, pneumonia, sepsis, etc.

Auto-immune:

  • Scarlet fever
  • Rheumatic fever
  • Glomerulonephritis
  • PANDAS
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10
Q

Describe the presentation of scarlet fever. How is it treated?

A

High fever -> headache and pharyngitis, rash
Rash: rough ‘sandpaper’ maculopapular rash, flushed cheeks with perioral sparing. White/strawberry tongue

Notify the health protection team
Treat with antibiotics (phenoxymethylpenicillin) for 10 days
Symptomatic treatment eg. paracetamol, lozenges

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11
Q

A 9 month old boy is brought to the GP by his mother. He has a fever of 37.8, is extremely irritable, and is not feeding like usual. Describe your approach.

A
  • Full history to look for signs of localised infection, etc
  • Examination: brief abdo, chest exam, look for rash, ENT
  • Based on examination findings -> further investigations
    eg. urine dip, throat swab
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12
Q

Describe the presentation of acute otitis media

A
  • Fever, irritability/crying, ear pain, vomiting, cold symptoms, systemically unwell
  • Bulging, erythematous tympanic membrane without cone of light, +/- fluid level, +/- perforation with visible pus
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13
Q

Describe the management of acute otitis media

A
  • Conservative: paracetamol/ibuprofen, fluids, rest

- Antibiotics if symptoms last >3 days/severely unwell (amoxicillin)

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14
Q

What is the complication of recurrent acute otitis media? What is the management?

A
  • Recurrence can lead to effusion (glue ear)
  • Can present with hearing loss +/- speech difficulties
  • O/E: tympanic membrane is dull, retracted, with fluid level
  • Refer to ENT, may require grommet insertion (drain)
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15
Q

Describe the management of sinusitis

A
  • Sinusitis is usually caused by a viral infection, takes 2-3 weeks to resolve
  • Best management is conservative
    eg. paracetamol/ibuprofen, fluids, rest, steam inhalation
  • Return if not any better after 10 days of symptoms, increasing fever or worsening symptoms
  • > 10 days: consider prescribing antibiotics (phenoxymethylpenicillin- Penicillin V) for 5 days.
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16
Q

Peritonsillar abscess is also known as__

A

Quinsy

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17
Q

Name some causes of stridor

A
  • Croup
  • Acute epiglottitis
  • Foreign body aspiration
  • Angioedema
  • Diphtheria
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18
Q

What should you never do in a child with stridor?

A

Examine the throat without resources for life support/resusc due to risk of precipitating full closure

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19
Q

What is croup? What is the common cause? How does it present?

A

Croup is an infection of the upper airways (laryngotracheobronchitis). Usually caused by parainfluenza virus, RSV, etc.

Presents with:

  • Viral prodrome: runny nose, low fever
  • Loud barking cough, stridor, difficulty breathing
  • Symptoms are worse at night
  • Respiratory distress is uncommon and severe
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20
Q

What is the age group commonly affected by croup? Bronchiolitis?

A

Croup is very common, affects children 6 mos-6 years, with peak in the 2nd year.
Bronchiolitis is slightly more common than croup, and affects young infants typically 1-9 months old

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21
Q

An 18 month old child is brought to A&E by his mother. She reports he developed a loud cough late yesterday evening after a period of cold-like symptoms. On examination, he appears well, with no visible chest recessions, tachypnoea, or signs of respiratory distress. When you look in his ears he starts to cry, and you notice a mild stridor. His oxygen saturations are 99% on air, temperature is 37.5˚. What is your management?

A

The history and examination finding of stridor makes the diagnosis of croup most likely (viral prodrome followed by cough and stridor). The child is systemically well, with stridor heard only when crying. Therefore, this is MILD croup and the correct management is to administer dexamethosone 0.15mg/kg PO and send home.

  • Explain the diagnosis to mother and management
  • Fluids, rest, paracetamol, checking in the night
  • Safety net: come back if not improving. Call 999 if you are worried eg. trouble breathing, significantly worse
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22
Q

Describe the management of croup

A

Want to classify if mild, moderate, severe or life-threatening

  • Mild: cough but no stridor at rest
  • Mod: cough, stridor at rest
  • Sev: cough, stridor at rest, agitation/lethargy
  • Life-threatening: signs of significant respiratory distress eg. cyanosis, extreme tachypnoea, drowsy

Mild: PO dex and send home. Paracetamol, fluids, rest, check in the night
Mod/sever/life-threatening: admit for monitoring. Consider nebulised steroids or nebulised adrenaline if life-threatening

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23
Q

What is epiglottitis? What is the typical cause? What is the presentation?

A

Acute epiglottitis is inflammation of the epiglottis associated with septicaemia, typically due to Haemophilus influenza B.

Presents with upper airway obstruction:

  • Fever, systemically unwell
  • Severely painful throat preventing speaking/swallowing -> drooling + mouth open
  • Soft stridor, difficulty breathing
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24
Q

What should you do if you suspect acute epiglottitis?

A
  • Call for help immediately (senior paeds + anaesthetics)
  • Secure the airway
  • Start sepsis 6: take cultures + lactate, give O2 and fluids, IV antibiotics (ceftriaxone), measure urine output
  • Can use steroids + adrenaline to decrease inflammation
  • Rifampicin prophylaxis to close contacts
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25
Q

Describe the presentation of bronchiolitis

A
  • Viral prodrome: runny nose, fever, etc.
  • Dry cough, wheezing, shortness of breath, difficulty breathing
  • Respiratory distress if severe: tachypnoea + tachycardia, recessions, grunting, nasal flaring, cyanosis, low saturations, drowsiness
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26
Q

What are the risk factors for severe bronchiolitis?

A
  • Prematurity esp. chronic lung disease of prematurity
  • Other lung disease
  • Age <6 weeks
  • Congenital cardiac disease
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27
Q

A mother brings her 3 month old infant to A&E because he is having trouble feeding. She describes a cold-like illness starting several days before, that has now progressed into a non-productive cough. He is struggling to feed normally due to his breathing, with frequent breaks in feeding. What is your approach?

A

Depending on how unwell the child is: A->E

  • Full history including amount of feeding recently and nappies to gauge severity of dehydration, ask about wheezing, temperature. Birth history including prematurity, immunisations, other lung disease/cardiac disease + recurrent chest infections. Anyone smoking at home.
  • Examination: listen to chest, signs of respiratory distress, assess for dehydration
  • Vitals eg. RR, HR, oxygen saturations, temperature
  • Ix: Consider CXR + VBG if respiratory distress, bloods if acutely unwell/high temp

Management: the most likely diagnosis is probably bronchiolitis

  • If severe: admit for monitoring and continuous O2
  • If mild: send home, give advice on conservative management and safety netting
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28
Q

What can be used in infants with lung disease to prevent bronchiolitis?

A

Palivizumab

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29
Q

You have just seen an infant in A&E with a diagnosis of mild bronchiolitis. How would you counsel the parent?

A
  • Explain diagnosis: bronchiolitis is inflammation of the lungs, usually caused by a virus. It is very common in younger children and infrequently children need admission. Most will get better within 3-5 days at home. No other treatments are proven to speed up recovery
  • Conservative management: fluids, rest, paracetamol, check during the night, stop smoking!!!
  • Safety net: if getting worse come back. If having lots of trouble breathing, going blue, very drowsy etc, call 999
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30
Q

Name some causes of wheeze in children

A
  • Bronchiolitis
  • Viral episodic wheeze
  • Multi trigger wheeze
  • Asthma
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31
Q

Describe the spectrum of asthma/wheeze in children

A
  1. Viral episodic wheeze: very common in infants and younger children (1-5 years), presents with cough + wheezing triggered by viral infection. NOT asthma, does not require management, does not predispose to asthma. Management depends on the severity as with asthma eg. salbutamol burst therapy when symptomatic, LKA/ICS for prevention taken at the start of URTI.
  2. Multi-trigger wheeze: quite common in younger children. Cough + wheeze (similar to asthma) triggered by many different things eg. dust, pollen, viruses, cold air etc. Not asthma but some children go on to develop asthma later in childhood. Salbutamol for symptomatic episodes, can consider ICS
  3. Asthma: typically only diagnosed >5 years old. Cough + wheeze on multiple days of the week over several weeks, often worse at night. Managed with salbutamol as needed + low dose ICS with escalating drug therapy.
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32
Q

Describe the clinical characteristics of asthma

A
  • Recurrent episodes of symptoms with asymptomatic periods between episodes. Can have triggers eg. viral infection, allergens, cold air
  • Exacerbations: dry cough, wheeze, shortness of breath, chest tightness. Diurnal variation (worse at night/early morning)
  • Objective evidence of airway obstruction + reversibility eg. auscultated wheeze/reduced PEF during symptomatic periods, none when asymptomatic
  • Personal or family history of atopy
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33
Q

The mother of an 8 year old boy brings him to the GP because she is concerned over a recurrent cough and difficulty breathing. She says he has had episodes like this many times during his childhood, for which he has needed treatment for several times but is not taking any medications currently. The last episode was 1 month ago, and he has not had any symptoms since then. On this occasion, he has had a dry cough, wheeze, and describes a feeling of chest tightness for the past 5 days. It is worse when he is playing outside. She would like him to have some medication because it is happening too frequently. What is your management?

A
  • Full history including history of previous episodes and progression of disease, PMH esp of atopy, recurrent chest infections, FHx of atopy/asthma, how it is impacting his life eg. school/sleep, if anyone smokes at home/pets at home
  • Examination: ausculate chest (wheeze)
  • Vitals, PEF

Based on the history it sounds like this child has asthma (cough, wheeze, chest tightness). If there was wheeze on ausc./reduced PEF, this would also support the diagnosis.
Therefore, given the high probability of asthma, this child should be given treatment, starting with inhaled beta-agonist eg. salbutamol to take when symptomatic. Consider the need for ICS.

34
Q

How would you diagnose asthma?

A
  • Clinical diagnosis based on history and examination findings. No gold standard criteria/test.
  • History of recurrent episodes of symptoms with asymptomatic periods in between (4: cough, wheeze, chest tightness, SOB), diurnal variation
  • Personal/family history of atopy
  • Wheeze on ausc, reduced PEF

If high probability of asthma: treat and review to check for reversibility of symptoms/obstruction

If low probability: look for alternative diagnoses

If medium probability: carry out further testing if able (>5 years) with spirometry +/- reversibility testing

35
Q

What is important to do when diagnosing a child with asthma?

A
  • Explain the diagnosis to the parents/child
  • Education eg. avoiding triggers, non-smoking house
  • Encourage vaccination
  • Involve the child as much as possible
  • Create a written personalised asthma action plan (PAAP) and check understanding
  • Teach correct inhaler technique and check understanding
  • Explain how to recognise an asthma attack and what to do when it happens
  • Set time for review of symptoms eg. annually
36
Q

What is in a personalised asthma action plan?

A
  • Every day management instructions
  • How to recognise asthma symptoms/identify worsening control
  • What to do in an asthma attack
  • When to contact healthcare services
37
Q

When should a child be followed up following an asthma attack and by who?

A
  • If admitted: by GP 2 days after discharge

- If not admitted: by GP 2 days later to check for improvement of symptoms + wheeze/PEF

38
Q

Describe how you would do an annual asthma review

A
  • History of attacks including severity, treatment
  • 3 questions: Current symptoms (cough, wheeze, SOB, tightness) over the past week, waking up at night, impact on life eg. days off school
  • Use of reliever inhaler
  • Adherence to daily management
  • Inhaler technique
  • GROWTH
39
Q

Describe the asthma management pathway in children

A

Children 5-16:
Step 1: For reliever therapy
Short acting B2 agonist eg. salbutamol

Step 2: If symptoms 3+x/week, nocturnal symptoms, using SABA 3+x/week
Low dose inhaled corticosteroid BD (=200ug/day)

Step 3: If symptoms persisting, requiring frequent SABA
Add on a LTRA (or LABA)

Step 4: If LTRA not effective after 4-8 weeks
Switch LTRA to LABA

Step 5: Try MART regimen with a low dose ICS

Step 6: Increase the ICS to moderate with MART, or consider stopping MART and increasing ICS

Step 7: Refer to specialist to consider starting high dose ICS/alternative therapy eg. theophylline

Children <5:
Step 1: SABA

Step 2: Do an 8 week trial of moderate dose ICS

  • If symptoms have resolved: trial without
  • Symptoms return <4 weeks: asthma is likely, start treatment plan with low dose ICS
  • Symptoms return >4 weeks: asthma may be unlikely, repeat 8 week trial

Step 3 (after confirmation trial): Add LTRA

Step 4: Refer to specialist

40
Q

What are the 3 mains classes of asthma therapy?

A
  • Reliever therapy: SABA eg. salbutamol
  • Maintenance therapy: ICS, LABA, LTRA
  • MART (Maintenance And Reliever Therapy): ICS + LABA
41
Q

Explain how to use MART therapy

A
  • Instead of taking the daily inhaler and the blue inhaler when you have symptoms, you only have 1 inhaler
  • It does both jobs
  • Take every day as you would your steroid inhaler, AND take when you are having symptoms as you would the blue inhaler
  • Important to take it every day even if you are feeling well!
42
Q

Describe the pathophysiology of asthma

A

3 main airway problems:

  • Hyperresponsiveness
  • Inflammation
  • Reversible obstruction

Over time, this leads to airway remodelling eg. through smooth muscle hyperplasia

43
Q

How would you teach correct inhaler technique?

A

First explain + show, then have the patient practice to ensure understanding + correct technique followed

  • Use a PMDI (pressurised metered dose inhaler) and a spacer. *>12, can consider DPI (dry powder inhaler)
  • Shake the inhaler and attach to the spacer
  • Sit up straight, put mouth around the spacer mouthpiece and make a good seal, start taking normal breaths
  • While breathing normally, press the inhaler to release the medicine. Take 5 normal breaths and then remove your mouth and disconnect the inhaler
  • Rinse your mouth if using ICS. Wash the spacer with normal dish soap 1x/month.

*For young children, sit them on your lap facing sideways. They may need a face mask eg. <4 years

44
Q

Tell a patient: what is an asthma attack? What should they do when they have one?

A

An asthma attack happens when the asthma symptoms get much worse. Can be suddenly or over few days.
This may be: very bad cough/wheeze/tightness, struggling to breathe properly, unable to talk, breathing very quickly, needing blue inhaler >4 hours

If this happens, you should help your child to take puffs from the blue inhaler. 1 puff every 30-60seconds via spacer, up to 10 puffs in total.
If the spacer is not helping or your child is very unwell/worried, call an ambulance.
If the spacer helps, you should still make an urgent appointment with the GP.

45
Q

How do you determine the severity of an asthma attack?

A
  • Talking: able to talk? Can’t complete? Altered consciousness?
  • PEF: >50%? 33-50%? <33%?
  • Saturations: >92%? <92%?
  • RR: >25 (>12), >30 (5-12), >40 (<5)
  • HR: >110 (>12), >125 (5-12), >140 (<5)
  • Accessory muscles use? Or cyanosis, silent chest, poor respiratory effort?
46
Q

A mother brings her 9 year old daughter to A&E after she developed difficulty breathing after playing outside. She was diagnosed with asthma 1 year ago and has been taking a low dose ICS and SABA reliever. She has used 10 puffs of her blue inhaler at home but it was only slightly effective in relieving her symptoms. What would you do now?

A

A->E approach

  • Airway patency (AVPU)
  • Breathing: RR, oxygen saturations, listen to the chest. Give high flow O2 if low saturations
  • Circulation: check HR, BP. Consider IV access if concerns over hypotension
  • Disability: AVPU, glucose
  • E: temperature, PEF if able to

Reassess as needed, call for senior advice (registrar/anaesthetics if airway compromised), commence treatment.

This will give you info as to how severe the asthma attack is and allow you to direct management.

47
Q

A mother brings her 9 year old daughter to A&E after she developed difficulty breathing after playing outside 30 minutes ago. She was diagnosed with asthma 1 year ago and has been taking a low dose ICS and SABA reliever. She has used 10 puffs of her blue inhaler at home but it was only slightly effective in relieving her symptoms.
On examination, she is unable to complete sentences, she is using significant effort to breathe, saturations 94%, RR 28, HR 120, BP 115/70. What would you like to do now?

A

This is a severe asthma attack.

  • Call for senior help (paediatric registrar), admit
  • Nebulised salbutamol 5mg, oxygen driven
  • Nebulised ipratropium bromide 250 mcg
  • Nebulised Mg sulphate 150mg
  • Oral prednisoline 1-2mg/kg

Monitor response. Consider IV salbutamol/aminophylline/Mg sulphate if not improving

48
Q

A child is seen in A&E with a moderate exacerbation of asthma. The child is talking normally, RR + HR normal, sats 98%. After the first 10 puffs of SABA, the child is improving. What should the management be?

A
  • Inhaled salbutamol by spacer, 10 puffs every 30-60s
  • PO prednisolone short course (3-5 days)
  • Reassure and send home when no longer needing SABA more than 4 hourly
  • Safety net: come back if worsening symptoms, very worried, etc. GP appointment in 2 days to review.
49
Q

What are the different medications used in asthma management? What is their MoA?

A
  • SABA eg. Salbutamol: smooth muscle relaxation + airway opening
  • LABA eg. Formoterol: ‘’
  • Ipratropium bromide: anticholinergic. Also smooth muscle relaxant
  • ICS eg. beclomethasone, budesonide: decreases inflammation
  • Leukotriene receptor antagonist eg. Montelukast: anti-inflammatory
50
Q

What is whooping cough? What is the causative orgainsm? Describe the characteristics of infection (transmission, course of infection)

A

Whooping cough (pertussis) is a highly contagious LRTI caused by Bordetella pertussis.
It is spread by droplet transmission, with a 1 week incubation period.
3 phases of illness: cold symptoms (runny nose etc) for 1 week, followed by onset of cough that lasts 1-6 weeks, followed by a convalescent period.

51
Q

Describe the presentation of whooping cough.

A

Preceeding cold for about 1 week.
Paroxysmal cough that is worse at night, and followed by inspiratory whoop. Can be so severe as to cause vomiting, nosebleeds, subconjunctival haemorrhage and cyanosis.

52
Q

How is whooping cough diagnosed? What is the management?

A
  • Notify health protection team to arrange diagnostic testing
  • Perinasal swab for culture and PCR (cough started within last 2 weeks) or IgG serology (>2 weeks)
  • Admit if <6 months or severely unwell
  • Antibiotics: azithro/clarithro
  • Supportive management: fluids, rest, paracetamol
  • Stay home from school until 2 days of treatment. Explain that cough may still last for a long time
53
Q

Name some causes of cough in children

A
  • URTI
  • Pneumonia
  • Asthma
  • Reflux disease
  • TB
  • Chronic lung disease eg. CF, PCD
  • Smoking environment
54
Q

Name some causes of pneumonia in children

A
  • Viral eg. coronavirus, influenza, parainfluenza
  • Bacterial: Strep pneumo, Haemophilus influenza, Mycoplasma pneumonia, Staph, Legionella, etc.
  • In neonates: GBS, E coli
55
Q

Describe the presentation of pneumonia in children. How is it diagnosed?

A
  • Fever
  • Productive cough
  • SOB
  • Respiratory distress: recessions, tachycardia + tachypnoea, nasal flaring, grunting
  • Poor feeding

Diagnosis: clinical + CXR for confirmation

  • Sputum sample useful but can be difficult - gastric lavage
  • Throat swab, urine antigen screen (Legionella)
56
Q

Describe the management of pneumonia in children

A
  • Assess for severity: signs of respiratory distress, examine chest, assess dehydration, vitals
  • Consider admission if: respiratory distress, persistently low sats, history of chronic lung disease/other, significant dehydration
  • Give O2 and antibiotics (co-amox)
  • Home treatment: supportive, PO antibiotics (amox 5 days +/- clarithro), safety net

**All children with pneumonia should have antibiotics as difficult to distinguish between viral + bacterial

57
Q

Chronic productive cough should raise suspicion of ___. What is the appropriate response?

A 
Bronchiectasis, CF, PCD, etc 
Important to refer to secondary care for thorough investigation of cause:
-Sputum cultures
-Sweat test for CF 
-Screen for antibody deficiency 
-Nasal nitric oxide test (PCD)
-HIV antibodies
CT is diagnostic!!
58
Q

Explain the pathophysiology of cystic fibrosis

A
  • Mutation (6 different classes, 4 common- most is deltaF508) in the CFTR gene (chloride ion channel) leading to poor ion transport and accumulation of thick secretions in exocrine glands
  • Causes recurrent chest infections, pancreatic insufficiency + malabsorption/vitamin deficiency, diabetes, meconium ileus
59
Q

Describe some presentations of CF, signs on examination.

A
  • Recurrent LRTIs, persistent wet cough
  • Faltering growth
  • Meconium ileus
  • Steatorrhoea
  • Coarse crackles bilaterally
  • Hyperinflated chest, Harrison’s sulci
  • Clubbing
  • Short stature
60
Q

How is cystic fibrosis diagnosed? What do the results of testing indicate?

A
  • Infant screening at birth (immune reactive trypsinogen), followed by sweat test or gene test
  • Sweat test is usually used in children
  • Normal: 10-40 mmol/L
  • CF: 60-125 mmol/L
61
Q

Describe the management of CF

A
  • MDT approach: specialist paeds service, specialist nurses, dietician, physio, psychologist
  • Respiratory management: review every 8 weeks. Involves airway clearance physio, mucolytics (rhDNase, +hypertonic saline, mannitol dry powder)
  • Infection management: prophylactic antibiotics (fluclox) with prompt management of new infection with IV antibiotics via PICC line, monitoring of sputum for Pseudomonas
  • Nutrition: high calorie diet, pancreatic enzymes (Creon), fat soluble vitamin supplementation
  • Psychological: offer support with psychology team, refer to charities (CF Trust)
62
Q

Why is gene mutation testing important for informing CF management?

A

Because new treatments have been developed that are effective in individuals with the F508 mutation: Ivacaftor and Lumacaftor

63
Q

How does PCD present?

A

Primary ciliary dyskinesia presents with recurrent chest infections, chronic ear infections. 50% have dextrocardia and situs inversus (Kartagener syndrome)

64
Q

Describe the mechanism of allergic disease

A
  • Inappropriate immune response to harmless foreign antigens
  • Requires sensitisation (this might not be obvious)
  • Can develop at any age and time, though more common in children
  • Future exposure leads to immune activation, this may be a Type 1 or Type IV hypersensitivity reaction
65
Q

Describe the two main types of allergy (mechanism). What are some examples?

A 
Type I: IgE mediated eg. anaphylaxis, urticaria. Antigen is recognised by IgE and there is immediate histamine release by mast cells. Reaction within seconds-minutes
Type IV (delayed type): T cell mediated eg. CMPA. Caused by tissue inflammation from T cell activity. Occurs hours-days after exposure.
66
Q

Name some common allergens

A

Food: tree nuts, soya, egg, shellfish, seeds
Environmental: pollen, dust mites, pet dander, mould

67
Q

What is atopy? Name the atopic diseases

A
  • Family/personal tendency to produce IgE in response to common environmental antigens
  • Eczema, food allergy, allergic dermatitis, allergic rhinitis, asthma
68
Q

What is the allergic march?

A

The incidence of atopic diseases varies by age eg.
Infancy: eczema, food allergy
Childhood: asthma
Adulthood: allergic rhinitis

69
Q

What are the signs and symptoms of allergy?

A
  • Blocked/stuffy nose and mouth breathing
  • Itching (nose, eyes, skin)
  • Lacrimation + conjunctival injection
  • Sneezing
  • Angioeodema: oedema, wheeze, SOB
  • D+V
70
Q

What is the difference between food allergy and good intolerance?

A
  • Allergy has a specific immune-mediated aetiology

- Intolerance is a hypersensitivity reaction without immunological mechanism

71
Q

Describe the presentation of food allergy. How is it diagnosed?

A
  • Many are IgE-mediated: itching mouth + swelling, wheeze/stridor + SOB, urticaria
  • Can also be non-IgE mediated with GI symptoms (D+V, abdo pain, bloody stool, GORD) +/- rash and faltering growth

Diagnosis: clinical history is key. Want clear evidence of exposure -> reaction, +/- repeated episodes
In practice:
-Skin prick testing best confirmation for IgE mediated
-Trial of elimination is best for non-IgE mediated
Gold standard: food challenge (double-blind, placebo)

72
Q

A mother has brought in her 14 month old son because she is worried he has an allergy to eggs. What do you want to know?

A
  • What makes her think that- eg. reaction? Severity, rapidity of onset, duration, what made it end? How many times has it happened?
  • Feeding history including weaning age, type of foods consumed
  • History of allergies/eczema
  • Family history of atopy
73
Q

How is food allergy managed?

A
  • Explain diagnosis and management of:
  • Avoidance (diet elimination for child or mother if breastfeeding)
  • Give advice for allergy attack with written information eg. antihistamine or IM adrenaline (EpiPen)
  • If cows milk/egg: advice that they usually resolve during childhood, may use an egg ladder to slowly reintroduce. Can try after 6-12 months symptom free
74
Q

How does allergic rhinitis present?

A
  • Can be intermittent or persistent. Intermittent may be seasonal/perennial eg. pollen related
  • Blocked nose/runny nose, sneezing, itchy eyes + nose, post-nasal drip +/- cough
  • Worsening asthma symptoms
75
Q

What is the treatment for allergic rhinitis?

A
  • Intermittent mild: avoidance, oral/intranasal antihistamines
  • Persistent mild/intermittent severe: antihistamine or LTRA -> intranasal steroids. +/- decongestant spray
  • Persistent severe: intranasal steroids +/- antihistamine
  • Eye drops
76
Q

Describe urticaria and angioedema

A
  • Urticaria is an acute skin reaction to allergen exposure caused by histamine release. Presents with erythematous and pruritic weals/hives
  • Angioedema is acute swelling of the tongue + lips in response to allergen exposure

They are both caused by histamine release leading to local vasodilation and capillary permeability

77
Q

How is angioedema managed?

A
  • Non-sedating antihistamines (eg. cetirizine)
  • Consider PO corticosteroids if severe (several days)
  • Safety net: call 999 if increasing severity, difficulty breathing, feeling nauseous or D+V
78
Q

Explain the management of anaphylaxis

A

Medical emergency!!
A-E approach: support airway, high flow O2, CPR if indicated
Call for help
IM adrenaline 1:1000 in thigh- assess response at 5 mins
IV fluids, IV chlorphenamine, IV hydrocortisone
Can use salbutamol nebs

79
Q

Describe the presentation of anaphylaxis

A

Hyperacute onset
Angioedema, wheeze, SOB
Urticaria, flushing
Tachycardia, tachypnoea, hypotension

80
Q

Explain the diagnosis of anaphylaxis (after the acute episode is managed).

A
  • Severe form of allergy
  • Refer to specialist allergy clinic for testing- identify the cause
  • Will give EpiPen
  • If it happens again: call 999, give EpiPen, elevate legs

Paediatrics (13 decks)

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