Paediatricts- respiratory Flashcards
Conditions which are tested on the Guthrie test (5 days)
- Sickle cell disease
- Cystic fibrosis
- Congenital hypothyroidism
- Phenylketouria
- Medium chain acyl-CoA dehydrogenase deficience (MCADD)
- Maple syrup urine disease
- Isovaleric acidaemia (IVA)
- Glutaric aciduria type 1(GA1)
*homocystinuria (pyridoxine unresponsive) (HCU)
Cystic fibrosis- Pathophysiology
- It is due to a defect in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which codes a cAMP-regulated chloride channel.
- Causes excess sodium and water re-absorption resulting in dehydration and impaired clearance of respiratory secretions.
- The airway becomes obstructed with respiratory secretions where microbes grow causing infection, inflammation and eventual tissue destruction.
- This leads to bronchiectasis and eventual respiratory failure.
Cystic fibrosis- genetics
- Cystic fibrosis (CF) is an autosomal recessive disorder causing increased viscosity of secretions (e.g. lungs and pancreas).
- In the UK 80% of CF cases are due to delta F508 on the long arm of chromosome 7. Cystic fibrosis affects 1 per 2500 births, and the carrier rate is c. 1 in 25
Organisms which may colonise CF patients
- Staphylococcus aureus
- Pseudomonas aeruginosa
- Burkholderia cepacian i.e. Pseudomonas cepacia
- Aspergillus
CF diagnosis
Sweat test
* Patients with CF have abnormally high sweat chloride
* Normal value <40 mEq/l, CF is indicated by >60 mEq/l
* Causes of false positive: malnutrition, adrenal insufficiency, glycogen storage disease, nephrogenic diabetes insipidus, hypothyroidism, hypoparathyroidism, G6PD, ectodermal dysplasia
* The most common reason for false negative tests is skin oedema, often due to hypoalbuminaemia/hypoproteinaemia secondary to pancreatic exocrine insufficiency
CF- Presenting features
- neonatal period (around 20%): meconium ileus, less commonly prolonged jaundice
- recurrent chest infections (40%)
*malabsorption (30%): steatorrhoea, failure to thrive. Due to pancreatic insufficiency, can be confirmed with a stool sample to perform a faecal elastase test. Low level suggests insufficiency (<200 ug E1/g faeces) - other features (10%): liver disease
- Normally diagnosed in the newborn screening programmes
Other features of cystic fibrosis
- short stature
- diabetes mellitus
- delayed puberty
- rectal prolapse (due to bulky stools)
- nasal polyps
- male infertility, female subfertility
- Life expectancy: 45
Management of cystic fibrosis
- regular (at least twice daily) chest physiotherapy and postural drainage. Parents are usually taught to do this. Deep breathing exercises are also useful
- high calorie diet, including high fat intake*
- patients with CF should try to minimise contact with each other to prevent cross infection with Burkholderia cepacia complex and Pseudomonas aeruginosa
- vitamin supplementation
- pancreatic enzyme supplements taken with meals
- lung transplantion
- chronic infection with Burkholderia cepacia is an important CF-specific contraindication to lung transplantation
Medication for cystic fibrosis
- Sodium chloride: aids growth until on a fully weaned diet. Older also require additional salt if they are in a hot climate for a period of time
- Flucloxacillin: used as prophylaxis against staph aureus in the lungs
- Creon: contains pancreatic enzymes to aid absorption of fat for patients with pancreatic insufficiency
- Abidec: a multivitamin to reduce issues related to malabsorption
- Vitamin A, D & E: fat soluble vitamins for pancreatic insufficient patients only
Lumacaftor/Ivacaftor (orkambi)
- is used to treat cystic fibrosis patients who are homozygous for the delta F508 mutation
- lumacaftor increases the number of CFTR proteins that are transported to the cell surface
- ivacaftor is a potentiator of CFTR that is already at the cell surface, increasing the probability that the defective channel will be open and allow chloride ions to pass through the channel pore
Cystic fibrosis infection-
- Common organisms: Staph aureus, Haemophillus influenzae, Moraxella Catarrhalis
- Treatment: 2 weeks of oral antibiotics (amoxicillin/co-amoxiclav). If don’t respond to antibiotics or have signs of LRTI use two weeks of IV Cefuroxime
- Organisms which can have a long term impact on lung function: Pseudomonas Aeroginosa, Mycobacterium Abscessus, Burkholderia Cepacia
- Mycobacterium Abscessus & Burkholderia Cepacia are very significant and always require IV antibiotics
Pseudomonas Aeuroginosa treatment
- If child is well, the infection can be treated with 2 weeks of oral ciprofloxacin & 3 months of inhaled tobramycin/colomycin.
- If the child is unwell or displays signs of a Lower Respiratory Tract Infection (LRTI) then he or she requires admission for 2 weeks of IV ceftazidime and IV tobramycin & 3 months of inhaled colomycin. They would also receive intensive physiotherapy & dietician input.
- After 3 separate growths of Pseudomonas a child is considered to be colonised. When a child isolates Pseudomonas they must be seen in a Pseudomonas positive clinic to prevent cross contamination.
Advanced CF
- Barrel shaped chest with crepitations
- Clubbing
- Reduced FEV1
- Hyperinflation and bronchiectasis- the airways become abnormally widened and scarred with a build up of thick mucus which is prone to infection
- May have a portocath for IV administration of antibiotics
Allergic rhinitis- classification
- Almost 80% children with Asthma will have Allergic Rhinitis
- Can be classified as intermittent (< 4 days/week or <4 weeks per year) or Persistent ( > 4 days/week and >4 weeks per year)
- Can also be classified as mild (normal sleep and daily activity) or moderate to severe (disrupts sleep and normal activities)
Allergic rhinitis- symptoms
- Presents usually with nasal symptoms (rhinorrhea, itching, sneezing, blocked nose), Eye symptoms (conjunctivitis, runny itchy eyes)
- Can present with mouth breathing or chronic otitis media with effusion
- Signs may include the “allergic salute” (from constant nose rubbing), Dennie- Morgan lines ( infraorbital line or fold from chronic rubbing)
Symptoms suggestive of allergic conjunctivitis
1 or more of the following symptoms for >1h on most days:
* Symptoms associated with rhinitis
* Bilateral eye symptoms
* Eye itching
* Red eye
* No photophobia
Symptoms suggestive of allergic rhinitis
2 or more of the following symptoms for >1 hour most days
* Watery rhinorrhea
* Sneezing, especially paroxysmal
* Nasal obstruction
* Nasal pruritis
* +/- conjunctivitis
Treatment of allergic rhinitis
- Allergen avoidance if known
- Antihistamines for mild
- Nasal steroids for moderate/severe
- Montelukast (LTRA) can be added to steroids
- Immunotherapy is in sublingual and subcutaneous forms in severe cases
- Important to treat as it has a significant impact on quality of life
- May help to control asthma better if co-exists
- Allergic conjunctivitis: eye drops (sodium cromoglycate or olopatadine)
Pneumonia causes
Infection affecting the distal airways especially alveoli
- Viruses ( RSV, Parainfluenza, Influenza, adenovirus)
- Bacteria (Strep Pneumoniae, Group A Strep, Haemophilus Influenzae, Moraxella Catarrhalis)
- Atypical organisms ( eg Mycoplasma)
S.pneumoniae is the most likely causative agent of bacterial pneumonia in children then Mycoplasma Pneumoniae and Chlamydia Pneumoniae.
Treatment for pneumonia
- Amoxicillin is first-line for all children with pneumonia
- Macrolides (Clarithromycin) may be added if there is no response to first line therapy
- Macrolides should be used if mycoplasma or chlamydia is suspected
- In pneumonia associated with influenza, co-amoxiclav is recommended