Do PTH to see if hyperparathyroidism (primary, or secondary to adenoma).
Do urinary calcium:creatinine ratio to exclude familial hypercalcaemic hypocalciuria (24 hour better?).
USS kidneys for nephrocalcinosis and to exclude tumour – CT head and tumour markers.
Genetics for Williams syndrome. Panels for nephrocalcinosis.
Treatment is hyperhydration.
A spectrum of disorders where the normal left-right arrangement of organs in the body is disturbed (“errors of lateralisation”).
Situs inversus is complete mirror image arrangement – there are no health consequences as a result (other than iatrogenic eg delayed diagnosis of appendicitis).
Many genetic causes. Primary cilial dyskinesia (Kartagener syndrome) is one.
Heart – IVC can be interrupted, requiring azygos veins to drain lower body vessels back to heart. Many variations of valves and connections seen. Congenital heart block often seen.
Gut – malrotation, biliary atresia
Asplenia or polysplenia.
Horseshoe or dysplastic kidneys.
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.
Could be reduced intake but usually excessive losses –
| Renal | Non-renal |
| Renal tubular acidosis (type 1 or 2) | Vomiting eg pyloric stenosis |
| Bartters or Gitelmans syndrome | Diarrhoea |
| Diuretics | Laxative 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.
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]Usually due to renal failure. Causes arrhythmia and death…
Frusemide and calcium resonium only for asymptomatic!
Upper, lower, atypical, recurrent – all have specific definitions;
Diagnosis is ideally by culture – minimum of 1.25 ml, pref 2.5ml of urine in a 7ml red top boric acid container. White top only acceptable if received at lab on same day or day before, within hospital. Collection method important, ideally clean catch.
But given delay in getting culture result, urinalysis more practical, if less sensitive/specific. Nitrites have high positive predictive value so treatment usually started pending culture. Microscopy (for white cells and bacteria) is routinely done in infants under 3 months but needs to be requested between 3 months and 3 years. Greater than 100 wcc or 1000 organisms considered “numerous”, above 40 wcc or 500 organisms “moderate”.
Leaky tubules, shedding bicarbonate plus other things, leading to acidosis.
Types 1 and 2 can present with growth failure, else the effects of hypokalaemia (profound muscle weakness) and acidosis (abdominal pain). Type 1 leads to progressive kidney disease, with the associated bone disease (rickets). May also end up with stones. Associated with sickle cell, Ehlers Danlos.
Type 2 usually Fanconi syndrome so leakage of amino acids, phosphate etc. Can be caused by Cystinosis, Wilson’s, hereditary fructose intolerance, poisoning.
Type 4 often related to drugs, but also Addison’s, urinary tract obstruction.
Dipstick testing is highly sensitive and picks up tiny amounts of protein (and blood) that isn’t necessarily of any concern.
A significant proportion of well people will have one or 2 pluses of protein on dip testing at any one time. More common with intercurrent illness.
Can happen with urine infection. Can happen with exercise.
Large amounts of protein loss can indicate nephrotic syndrome. PCR (or ACR) would typically be above 200.
Rarely PCR can be extremely high, but turns out not to be albumin but Tam Horsfall protein – can be ignored!
Alpha-galactosidase defect, one of the lysosomal storage disorders, with accumulation in various tissues.
X-linked but females get disease, so not correct to call them carriers.
Classically, “pain attacks”, affecting the extremities. In the abdomen, can mimic appendicitis. Due to accumulation in nerves. Since nothing to really see on examination, easily misdiagnosed as functional.
Other features:
[Omim]
In children under 10, high BP is usually secondary to an underlying disease or condition. Primary hypertension increasingly recognised in older, obese children.
Do repeated measurements, ideally automated home BP monitoring, before diagnosing hypertension. Check manually as well as with automated device. Beware “white coat effect”, even if not clearly anxious.
Use appropriate cuff size – cuff should cover at least 75% of the upper arm from the acromion to the olecranon (should be sufficient space at the antecubital fossa to apply stethoscope!) . An inappropriately small cuff will overestimate BP.
Long list of causes, so follow the clues.
Family history important, of course.
So needs thorough history and examination, including:
Consider then end organ effects –
Depends on how high, whether other risk factors (diabetes, chronic kidney disease), symptoms and evidence of end organ damage.
Initially low salt diet, weight loss (if obese). Remember other morbidities related to obesity.
Acute hypertension might need frusomide and/or nifedipine.
Long term treatment is only going to be started if no improvement with lifestyle measures. Target BP depends on risk factors, as above.
[2016 European Society for Hypertension guidelines]