Bartter’s syndrome

Abnormal renal excretion, leading to low potassium.

Presents in early childhood with failure to thrive. Could also be constipation, muscle cramps and weakness (potassium needed for membrane potential, so these are all neuromuscular) and non-specific dizziness and fatigue.

Characteristic hypokalemic, hypochloremic metabolic alkalosis. High plasma renin activity and high aldosterone concentration seen.

Gitelman syndrome is similar, less severe (distal tubule, rather than ascending limb of loop of Henle) – less failure to thrive, in fact often asymptomatic detected incidentally. Might present with nocturia/polyuria.

Urinary calcium excretion distinguishes the two syndromes. Bartter’s waste calcium (more severe, after all), Gitelman retain.

Treatment is with supplementation.

Decompensation can be precipitated by diarrhoea or vomiting. Acute treatment can include potassium-sparing diuretics (spironolactone), cyclo-oxygenase inhibitors and renin-angiotensin blockers.

Pseudo-Bartter’s is due to CF.

Hypokalaemia

Could be reduced intake but usually excessive losses –

RenalNon-renal
Renal tubular acidosis (type 1 or 2)Vomiting eg pyloric stenosis
Bartters or Gitelmans syndromeDiarrhoea
DiureticsLaxative overuse
Hyperaldosteronism (CAH, tumour)Thyrotoxicosis
Salbutamol
Familial periodic paralysis
Pseudo-Bartter’s
Trauma
Diabetic ketoacidosis

Symptoms depend on severity and how rapidly decrease has happened. Chronic low levels are better tolerated. Since potassium important for membrane potentials, effects are mostly neuromuscular.

  • Cramps, weakness, paralysis
  • Ileus
  • Metabolic acidosis (although underlying cause often produces alkalosis)
  • Arrhythmia, heart failure
  • Rhabdomyolysis

ECG classically shows U waves, T wave flattening, and ST-segment changes. Can be tall wide P waves, can look like long QT if T and U waves merge.

Do urine and blood electrolytes to look at fractional excretion.

[Endocrine connections 2018][Current Treatment Options in Peds 2022]

Fragile X

Cause of developmental delay.

FMR1 gene is on X chromosome, obviously, and is a trinucleotide repeat disorder (along with Friedrich’s ataxia, myotonic dystrophy, Huntington disease etc), so inheritance is interesting.

Dads can carry gene, but only pass it on to their daughters (who will all get it).

Mums will carry gene on 1 chromosome, so sons and daughters can both get it, but 50:50 chance.

As with other trinucleotide repeat disorders, gene expands with each generation, so risk of disease increases from 1 generation to the next, and this is somewhat predictable: intermediate gene (so 45-54 copies) won’t expand to cause disease (200+ copies) in 1 generation, but premutation gene (55-199) copies probably will.

Features:

  • Moderately severe learning disability
  • Facial features – long face, midface hypoplasia, large lips and jaw, small ears
  • Macro-orchidism

Females less severely affected, of course.

Neuroblastoma

Neural crest tumours – cells that migrate to form sympathetic chain, including adrenal glands. 

Usually young children, usually already metastases at presentation – that’s because mostly vague symptoms until an abdominal mass or lymphadenopathy obvious.

Several eye related symptoms possible –

  • Dancing eyes (opsoclonus-myoclonus) a famous association – only seen in 1% of neuroblastoma but 1/3 of opsoclonus-myclonus syndrome (includes ataxia too!) have it.
  • Horner’s syndrome associated, as sympathetics (dilated pupil) run with oculomotor nerve.
  • “Panda eyes” are a rare clinical finding – proptosis, bruising – from orbital mets. 

Catecholamines are a marker but only rarely do you get symptoms eg hypertension, sweating, diarrhoea. 

Bone pain and fever are not uncommon. Otherwise depends were the mass effects are eg obstructive jaundice, dysphagia.

Investigations

GD-2 marker. Catecholamines as above.

MRI full body else MIBG scintigraphy. 

“Metastatic special” risk category – under 18 months, only skin, liver, marrow. Resolve spontaneously even when extensive!

Screening programmes in Germany and US doubled pick up rate but no change in mortality… Probably because detected more of these Metastatic special cases.

Burnout

WHO 2019 definition – occupational experience characterized by:

  1. Exhaustion (feelings of energy depletion)
  2. Cynicism – increased mental distance from one’s job, or feelings of negativism related to one’s job
  3. Reduced professional efficacy

The MBI-Human Services Survey (MBI-HSS) was published, followed by other versions, including one for teachers and one for medical personnel (MBI-MP). Gives scores for each of the 3 fields. No cut offs, just a continuum, although higher scores across all 3 would clearly fit with the WHO definition.

Attempts have been made to use the tool to then define or screen for burnout. But WHO never called it a disease or disorder, but “a legitimate occupational experience”.

Better to talk about the actual feelings – Overextended, Ineffective, Disengaged – cf Engaged – high scores across all 3 fields.

Organizations should not use the MBI in isolation. Other tools exist such as Areas of Worklife Survey (AWS), which looks at workplace culture in terms of workload, control, reward, community, fairness, values.

[Harvard Business Review 2021]

Burnout Assessment Tool (BAT)? 2 forms – core dimensions and secondary dimensions.

Arrhythmia

See SVT.

Adenosine 150mcg/kg? 12yr 3mg

Broad complex SVT – just treat as VT.

Cardioversion

Remove oxygen tubing for shocks unless closed circuit.

Stand clear – look at top/middle/bottom!

IM/IN ketamine plus sedation for synchronised shock.

Synchronised shocks are 1 then 2 J/kg.

Sync button needs pressed for each shock – most machines immediately reset. Press and hold – needs time to sync and give shock.

Resuscitation

UK Resuscitation council updates guidelines from time to time.

See also anaphylaxis (now 2 guidelines, basic and refractory) and arrhythmia.

Atropine not part of guideline – neonates 10mcg/kg (no minimum). Else 20mcg/kg min 100mcg. 

Out of hospital – Shout for help AND ask for an AED.  Sudden OOH collapse likely to be cardiac, even in a child – don’t wait till after rescuer breaths!

Compressions 100-120.min for both infants and children. One third depth of chest – 4cm infant, 5 child (6 adult). 1 finger breadth above xiphisternum to avoid organs. 

40% blood volume might be lost before hypotension appears…

5th centile for systolic BP is 70 at 1yr, 80 at 10, 90 at 15yr. 

Haemothorax might be picked up in B but don’t manage until C!

C – compartments of body incl long bones. 1:1 RCC:FFP

TXA – bolus, remember 2nd dose (or double bolus). 

Log roll can be missed if suspected spinal unless penetrating back wound suspected (or found on absorbent surface…)

ATMIST – age, time, 

Parents need a senior person who understands!

CT head might be better done at trauma centre…

Fairness

Raanan Gillon campaigned successfully for fairness to be added to the World Medical Association’s International code of medical ethics (with respect to both patients and professionals).

It therefore joins beneficence, non-maleficence and respect for autonomy as one of the cardinal principles (Beauchamp and Childress).

What fairness means is debatable, however. And these different principles can conflict.

But it still has value as a way of analysing ethical problems. Hopefully in advance of the problem becoming real for someone.

Aristotle’s theory of justice or fairness is a good place to start – “equals should be treated equally” is straightforward, but it also includes “unequals should be treated unequally, in proportion to their inequalities). In other words, some people may need to be treated differently (“unequally”) because they need the treatment more.

Allergies and School/Nursery

First do no harm – parents tend to overestimate risk of anaphylaxis, whereas there are clear consequences to restricting the child’s ability to sit with other children at snack/meal times, or restricting the food choices of other children.

Probably better to increase allergy awareness (which varies widely) than rely on classroom or school-wide bans [Dave Stukus editorial]

George Raptis has shown how allergy training can improve allergy awareness, not just confidence in managing an allergic emergency.