Flashcards in Paediatric endocrinology and metabolic disease Deck (17):
what are your differentials for short stature in a child?
congenital/genetic cause e.g. Turner's, familial
true GH deficiency
abnormalities with androgen/oestrogen levels
iatrogenic cause like excess GC use
define precocious puberty?
puberty that begins before 8yrs for females and 6 yrs for boys
what are some clinical features at birth which may make you suspicious of CAH?
Clinical features: genital ambiguity at birth, look for pigmented genitalia, signs of adrenal crisis such as haemodynamic instability, vomiting, metabolic acidosis, hypoglycaemia, metabolic derangement including hyponatremia and hyperkalemia
what inheritance pattern is CAH?
what might you think if you saw a boy with precocious puberty?
think organic pathology.
Think intracranial tumour causing bilateral testicular enlargement, gonadal tumour (unilateral testicular enlargement) or CAH (small testes)
what is the most common cause of delayed puberty in boys?
constitutional pubertal and growth delay- often familial
at what BGL in a type 1 diabetic do we start treating for hypoglycaemia?
less than 4mmol/L
what are some symptoms of hypoglycaemia?
describe the management of mild-moderate hypoglycaemia?
1. give 10-15g of quick acting carbohydrates
2. give 10-15g of low GI carbohydrates
reassess BSL in 20 mins
what are some symptoms of severe hypoglycaemia? and what do you do if you suspect this?
unable to eat and drink
Call OOO for ambulance
Place child in recovery position. Do not feed anything orally. Take BSL if possible.
Administer glucagon IM (0.5ml to 1ml)
what is a normal ketone range in the body?
what do you advise a parent whose child has >1mmol/l of ketones and BSL > 15mmol/L and is on injectable insulin?
give 10% of total daily insulin dose using rapid acting insulin
recheck ketones in 2hrs
any signs of vomiting/drowsiness etc or if the child is obviously clinically unwell seek urgent medical attention
what are the disadvantages of insulin pump therapy?
1. higher risk of DKA due to only rapid acting insulin being administered without basal dosing
2. increased risk of infection and skin irritation
3. requires more intensive BGL monitoring
4. requires lots of education on how to use the pump
generally, what does an 'inborn error of metabolism' disorder refer to?
this is a large group of inheritable conditions in which there is a mutation/defect in a protein/enzyme which plays a role in a metabolic pathway.
what is the role of calcium carbonate in kidney failure?
Injury to the kidney causes decreased phosphate excretion, elevating phosphate levels in the blood, and subsequently can cause hypocalcaemia.
Calcium carbonate binds phosphate and hence is aka as a phosphate binder
what are the possible causes of hypocalcaemia in a child?
neonatal causes e.g. DiGeorge syndrome, IUGR, prematurity
vitamin D deficiency
hyperparathyroidism (primary/secondary causes)
e.g. AKI and tumour lysis syndrome causing hyperphosphataemia