Peads - General Flashcards
what is kawasaki disease?
systemic, medium sized vessel vasculitis affects children (usually under 5)
who is kawasaki more common in?
boys
asian children
under 5
possible complication of kawasaki?
coronary artery aneurysm
key clinical features suspicious of kawasaki?
persistent high fever for >5 days widespread erythematous macupopapular rash desquamation on palms and soles of feet strawberry tongue cracked lips cervical lymphadenopathy bilateral conjunctivitis
investigations in suspected kawasaki?
FBC (shows anaemia, leukocytosis and thrombocytosis)
LFTs (can show low albumin and high liver enzymes)
raised inflammatory markers
what are the 3 phases of kawasaki disease?
acute
subacute
convalescent stage
what happens in acute phase of kawasaki?
child is unwell with fever, rash and lymphadenopathy
lasts 1-2 weeks
what happens in sub-acute phase of kawasaki?
acute symptoms settle
desquamation and arthralgia start
risk of coronary artery aneurysms in this phase
lasts 2-4 weeks
what happens in convalescent stage of kawasaki?
remaining symptoms settle
blood tests slowly return to normal
coronary artery aneurysms (if present) regress
lasts 2-4 weeks
how is kawasaki disease managed?
high dose aspirin (thrombosis risk) IV immunoglobulin (reduce risk of coronary artery aneurysm) follow up with ECHOs
kawasaki disease is one of the only reasons to use aspirin in kids, why?
aspirin causes risk of reye’s syndrome in kids
what is reye’s syndrome?
rare condition causing swelling in liver and brain
usually affects kids/teenagers recovering from viral infection (most commonly flu/chickenpox)
what is congenital adrenal hyperplasia?
group of rare genetic disorders caused by genetic mutations causing defects in enzymes involved in the conversion of cholesterol to mineralocorticoids, glucocorticoids and sex steroids (all products of adrenals)
how does adrenal hyperplasia occur in CAH?
defects in enzymes causes low cortisol production
results in overproduction of ACTH to try and regulate this low cortisol
ACTH acts on steroid producing cells causing adrenal hyperplasia
how is CAH inherited?
autosomal recessive
what are the 3 types of CAH (enzymes affected)?
21 hydroxylase deficiency
11-beta hydroxylase deficiency
17-beta hydroxylase deficiency
most common form of CAH?
21 hydroxylase
due to CYP21A2 mutation
presentation of 21 CAH?
virilisation in females
precocious puberty in males
salt wasting crisis in first 1-3 weeks of life
presentation of 11 CAH?
virilisation in females
precocious puberty in males
hypertension
hypokalaemia
presentation of 17 CAH?
virilisation in females
inter-sex in boys
hypertension
classical presentation of CAH in males (generally)?
struggle to gain weight
adrenal insuffciency
addisons like biochemical pattern
salt wasting
classical presentation of CAH in females (generally)?
ambiguous genitalia
salt wasting
how is CAH managed in children?
replace glucocorticoids and mineralocorticoids
surgery to correct
how is CAH managed in adults?
treat infertility
control androgen excess
when is jaundice normal in the neonate?
can be normal if occuring >24hrs after birth up to 14 days
when is jaundice abnormal in a newborn?
occurring <24 hrs after birth
jaundice occurring after 14 days or persisting after day 14 after birth
causes of jaundice in first 24 hrs of life?
rhesus haemolytic disease
ABO haemolytic disease
hereditary spherocytosis
glucose-6-phosphodehydrogenase
in which babies is physiological (normal) jaundice often seen (between 1-14 days)?
breastfed babies
what tests are done if jaundice still present after 14 days?
conjugated and unconjugated bilirubin direct antiglobulin test (coomb's test) TFTs FBC and blood film urine for MC&S and reducing sugars U&Es and LFTs
causes of prolonged jaundice (>14 days)?
biliary atresia hypothyroid galactosaemia UTI breast milk jaundice congenital infections (eg CMV, toxoplasmosis)
what does coomb’s test show if positive?
tests for antibodies directed against RBC
indicates autoimmune haemolytic anaemia if positive
what does a high conjugated bilirubin indicate as a cause for prolonged jaundice?
biliary atresia
tests for jaundice <24 hrs?
blood film
- blister cells indicates G6PD deficiency
- spherocytes indicates spherocytosis
- coombs test may show autoimmune haemolytic anaemia
- osmotic fragility test (shows how fragile RBCs are)
