Seen in immune complex conditions including urticarial vasculitis but also lupus nephritis.
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Developmental delay
Investigations include:
- Chiotriosidase – for lysosomal disorders eg Gauchers
- Selenium, copper, zinc – esp if retricted diet
- Lead – toxicity from environment
- Genetics
Transition in Epilepsy
As with care of other chronic conditions, transition to adult services needs to be planned well ahead of turning 16. Focus and decision making should be more around the young person themselves.
Topics include:
- Understanding of own condition
- Risks and risk management
- Medication – risks of missing, side effects, how to not forget
- Peers – explaining condition or sharing diagnosis (common misunderstandings)
- Impact on independent living, career
- Impact on relationships
- Effect of alcohol/drugs
- Emotional well being, self image
Specific things for epilepsy are:
- Driving
- Contraception and pregnancy
- Seizure management plan
- Stigma
See https://www.youngepilepsy.org.uk/parents-and-carers/adolescence-and-beyond/transition-to-adult-healthcare and other patient/family support websites.
Porphyria
Various types, all accumulate toxic levels of porphyrins in body but variable presentations.
Variegate Porphyria
The one associated with Dutch or Afrikaner (white South African) genetics. PPOX mutations
Specific symptoms can vary greatly; autosomal dominant so variable penetrance (can even be asymptomatic). Typically:
- Photosensitivity
- GI symptoms including abdominal pain, nausea, vomiting, constipation
- Neurological: extremity pain, weakness, anxiety, restlessness and convulsions
- Acute attacks, usually severe abdominal pain (can be chest), vomiting first. Then confusion, convulsions, and muscular weakness. Lasts days or weeks. Recovery from severe paralysis can be slow.
Triggers for acute attacks include drugs, hormones (especially progesterone), lack of carbohydrate intake, alcohol, and stress.
Diagnosis is by porphyrins in plasma, urine and stool.
Treatment now available – Panhematin is used to halt acute attacks and prevent attacks, Givlaari just for prevention.
Antibiotic Stewardship
Given that it’s hard, slow and expensive to develop antibiotics, and it is virtually inevitable that genetic diversity will generate antibiotic resistance, trying to maintain the usefulness of the antibiotics and reduce the prevalence of resistance is a global health priority.
This principle is called antibiotic stewardship and involves:
- Appropriate use of antibiotics
- Selecting the most appropriate antibiotic for a given infection (narrow spectrum where possible)
- Not relying excessively on in vitro measures of antibiotic effectiveness (MIC etc) if a narrow spectrum antibiotic clinically effective – or maximising the effectiveness of a narrow spectrum antibiotic by choosing a particular dosing regimen or route
- Surveillance for resistance
The UK has set (2025) primary care targets (90% of amoxicillin prescriptions will be for 5 day course rather than longer, less than 3% of all antibiotics will be for co-amoxiclav and cipro combined, for example), and secondary care targets:
- IV antibiotic prescribing will be 10% lower by 2029 than 10 years previously
- 95% of antimicrobial prescriptions will have an indication recorded by 2029
Sublingual immunotherapy
Used for grass (GRAZAX) and house dust mite (ACARIZAX) allergies.
But also offered for food immunotherapy.
Hugh Windom, Sarasota (Florida) 2024– 50 patients. None needed adrenaline.
Initial doses diluted 50% in glycerine saline. Liquid egg white used. With glycerin, can be stored at room temperature for 12 months. Else freeze (No change in SPT reactivity with freezing)
Peanut, sesame (flour), wheat (Vital) diluted with glycerine to 30-40mg/ml.
(Initial dosing 1:1000 (cohort 1) abandoned as being excessively cautious)
So maintenance is 6mg for peanut. For milk/egg, 10/11mg.
Syringe preferred to dropper.
2 minute hold in mouth before swallowing (no evidence yet for shorter holds or spitting). Wait five to 15 minutes before eating or drinking (no evidence yet for shorter).
No rest (sloth) period required – exercise challenges all negative. Only skip dose if asthma flare or vomiting.
Annual OFC, +/- labs to assess response – baked for milk/egg (!), 10/30/100mg for year 1, 100/300mg year 2.
Skip 3-4 months with little loss of protection!
87% pass 140mg at 1 yr. In Canadian study (Soller 2024?) switched to OIT if passed 340mg (obviously)
Tree nut immunotherapy
Multi-food OIT
Many people allergic to one nut are allergic to other nuts, and/or other foods.
Doing simultaneous OIT for multiple nuts makes sense in terms of the time/cost saving. Outcomes are pretty similar. The more foods, the more complicated – it also means a higher amount of maintenance
Obviously makes sense if younger age, lower IgE, higher reaction thresholds.
You need to think about what you are going to choose to treat, and what/if you need to challenge. Often some of the nut allergies come up on testing only and have never been eaten, so probably less important to challenge. You can always adjust the regimen to pause one food and continue another, if things are not going to plan. Most clinics just reduce both/all foods if there is a reaction, for simplicity.
Cyclical Vomiting Syndrome
A type of functional GI disorder. Thought to be similar to migraine – periodic, sudden onset repeated vomiting, but without headache. Then fine for weeks/months.
Can be severe enough to require admission for IV fluids. Even if not, child can be wiped out for days.
Try hot baths or showers.
NASPGHAN consensus guidelines recommend anti-migraine abortive agents if personal/family history of migraine eg Sumatriptan spray/tabs. Potentially worth trying Ondansetron (melts make sense – 5HT3 receptor antagonist). Neurokinin 1 (NK-1) receptor antagonists have anxiolytic and antidepressant properties eg aprepitant – BNFc has doses for children, and SMC have approved for chemotherapy. Comes as sachets or oral capsules.
The sedating antihistamine Promethazine is helpful in some cases and has a lower wide effect profile than perhaps some other anti-sickness medicines.
Electrolyte solutions rather than just water, ideally containing some sugar for energy. These come in gel, bottle or powdered form.
Adults with this condition often use cannabis!
Preventively, trigger avoidance, “supplements”, various “biobehavioural interventions” described.
Preventive drugs include beta blockers, ondansetron/aprepitant (as above), Amitriptyline or Topiramate.
Patient information at Migraine Trust.
[https://www.ncbi.nlm.nih.gov/books/NBK500018/]Tetanus
UK schedule is for 3 tetanus containing vaccines in first year of life, followed by extra dose of 6 in 1 at 18 months (new from July 2025). First real booster is pre-school (3 years 4 months). Second booster is at 10 years after 1st course, routine is for Td/IPV at 14.
Incubation period is 4-21 days.
Tetanus prone wounds
- Puncture in soil contaminated environment
- Wounds containing foreign bodies
- Compound fractures
- Wounds/burns with systemic sepsis
- Some animal bites/scratches
Not exclusive. Animal bites/scratches depends on whether there would have been soil in the mouth/claw…
High risk wounds on the other hand include heavy contamination with soil/manure, wounds/burns with extensive devitalised tissue, delayed surgical intervention beyond 6 hours even if not high risk initially.
Management of Wounds
If within 5 years of last vaccine (and complete primary course) – so up to 8 years old, likely good antibody levels so no booster required. If more than 5 years since immunisation, then giving booster vaccine is as effective as giving Tetanus immunoglobulin (TIG) so save it for high risk wounds only.
Avian influenza
UK-PAS meeting (David Goldfarb from University of British Columbia – PID and micro.)
H5N1 first appeared in 1997 in China but no more cases until early 2000s.
2017 report lots of young children, high mortality (53%). Unrecognised cases never admitted?
New clade 2.3.4.4b in 2021 – crossing over to mammals in Americas. Last year some mild cases related to cows.
Death in Louisiana H5N1 2025 (not the clade in dairy farms), related to poultry (underlying health issues and over 65 years). H5N1 circulating in wild and farmed birds in Scotland, H5N5 back in wild birds.
Case
2024 – 13yr old mild asthma, obesity (117kg), presented with conjunctivitis and fever. Then vomiting and dyspnoea, quickly transferred to PICU. LLL pneumonia. No risk factors.
Biofire resp panel used for PICU – includes pan influenza A antigens, so positive but H1/3 negative. Then did reflexive Xpert assay, which is quantitative. Relatively strong so referred to reference lab.
Genomics done within 4 days. Showed close to “cackling goose” strains. Also identified mutations associated with increased binding (not seen before in H5) so infectivity increased.
At same time Louisana case with same gene type and mutations.
Infection control tricky – new genes! Other studies have suggested incubation up to 13 days. Maintained airborne precautions until 2 negative samples (lower resp samples continued to be positive for 15 days, tracheal just 2 days…)
Note potential exposure to lab staff – discuss!
Ashraf Znait (PICU fellow) – intubated for hypoxia despite BipAP. Echo showed good function on intoropes. Started ECMO at 6 hours after intubation. Double cannulas (IJ and femoral) required to achieve sats of 80%. Dual lumen cannula. Required CRRT for fluid overload and anuria but high pressure with combination so switched to separate femoral dialysis catheter.
SIRS and haemodynamic instability persisted, decided against steroids (higher mortality in influenza cases 2019 – Recovery trial in UK currently?) so plasmapheresis.
D10 off inotropes. D15 before decannulated. D21 extubated.
Mode of acquisition never explained! No immunological problem found.
Ellie MacBain (PID fellow) – case series from 2012 found 75% increased risk of death with delayed oseltamivir treatment. IL6 and IFNgamma, resp sample viral load higher in fatal cases.
Oseltamivir resistance has been described in avian cases of this clade. WHO suggests higher doses (eg 150mg BD), combination therapy, or prolonged treatment.
This case had PCR positive serum with cycle threshold (CT) suggestive of true viraemia. Added amantadine, baloxavir, unable to procure IV zanamavir. From different classes of antiviral in any case.
Never positive bacterial cultures! On/off antibiotics throughout.
Ashley Roberts (Prof PID) – treatment doses used for oseltamivir prophylaxis, for 7-10 days.