Paeds - Medicine Flashcards
what is a robertsonian translocation?
long and short arms swap on acrocentric chromosomes
features of DS?
hypotonia flat occiput small low set ears almond shaped eyes single palmar crease excess back of neck skin learning disability hearing loss
what congenital heart disease are those with DS at risk of? what type of murmur?
VSD
pan systolic murmur
what causes DS?
trisomy 21
when is the combined test carried out for DS?
11-13+6 wks
what are the results of the combined test in DS?
low PAPP-A
nuchal thickness
high HCG
what does the quadruple DS test measure? when is this done?
AFP
hCG
UE3
inhibin A
16 wks
what is klienfleters?
47XXY
features of klienfleters?
wide hips gynacomastia reduced libido small testicles weak muscles infertile tall
what is turner’s?
45XO
features of turner’s?
short stature webbed neck high palate downward sloping eyes broad spaced nipples infertile
what congenital heart defects are those with turner’s at risk of?
VSD (pan systolic)
coarctation (weak femoral pulses)
what is the commonest hernia in kids? features?
indirect inguinal (through patent process vaginalis)
lateral to inferior epigastric
shows when kid cries
what are features of mesenteric adenitis?
Ix and Tx?
diffuse abdo pain
URTI
fever
US/CT
settles over time
what is toddler’s diarrhoea? Tx?
happens up to 5/6yrs due to colon immaturity
increase fat
loperamide
features of cow’s milk allergy?
2-72hrs after itch erythema eczema GORD diarrhoea usually around 6 months
Ix for cow’s milk allergy?
RAST
skin prick
Tx for cow’s milk allergy?
casein hydroxylate
rechallenge at 2yrs
Tx for GORD?
reassure
gaviscone
ranitidine
risk factors for constipation?
low fibre low fluid excess dairy lack of exercise obese
what is the criteria for constipation?
two of
<3 defecations a week
One episode of incontinence (child has been previously toilet trained)
Excessive retention or retentive posturing
Painful or hard bowel movements
Large fecal mass in rectum
Stools with large diameter that may obstruct the toilet
Present for at least 1 month
Tx for constipation?
laxido
wean off after 6 months
what is affected in CF?
autosomal recessive mutation in the CFTR gene (chloride channel)
features of CF?
failure to thrive wet cough infections malabsorption reflux constipated
diagnostic criteria for asthma?
Wheeze/SOB/chest tightness/cough in episodes with no symptoms inbetween
Wheeze heard
diurnal variability
Atopic Hx
No other diagnoses
Tx for asthma in kids?
SABA
ICS or LTRA (if <5yrs)
+ LABA/LTRA
+ LABA/LTRA/increase steroid
if LABA not working them remove
what is the criteria for severe asthma in kids?
O2 <92% PEF 33-50% cant complete sentences HR >125/140 (<5yrs) RR >30/40 (<5yrs)
what is the criteria for life threatning asthma in kids?
O2 <92%
PEF <33
exhausted cyanosed hypotensive silent chest poor resp effort confused
what is laryngomalacia?
supraglottic larynx flops over and causes partial airway obstruction when breathing
features of laryngomalacia?
stridor
whistling sound
more prominent when upset
Tx for laryngomalacia?
child grows out of it
features of kawasaki disease?
fever strawberry tongue rash abdo pain conjunctivitis
Tx for kawasaki disease?
steroids
Igs
aspirin
what is henoch schonlein purpura?
non ANCA disease
IgA associated immune complex deposition disorder
what is assoc with henoch schonlein purpura?
IgA glomerulonephritis
AKI, HT/oedema, urinary sediment
features of henoch schonlein purpura?
URTI weeks ago purpuric rash joint pain abdo pain vomiting
Tx for henoch schonlein purpura?
self limiting
paracetamol
what is the inheritance of MODY?
aut dom
what happens in CAH?
loss of 21 hydroxylase enzyme
low cortisol, low aldosterone high androgens (testosterone)
features of CAH?
ambigious genitalia tall for age precocious puberty hyperpigmented skin electrolyte disturbances
Ix for CAH? results?
U+Es (low Na, high K)
low BM
Tx for CAH?
hydrocortisone
fludrocortisone
how does vesicouteric reflux present in kids?
recurrent UTI/pyelonephritis
what GN do kids most commonly get?
minimal change (nephrotic)
IgA
what imaging do <6months get for recurrent UTI?
US + VCUG
what imaging do 6months - 3yrs get for recurrent UTI?
US
what imaging do >3yrs get for recurrent UTI?
US
renogram
Tx for UTI?
<3 months: amox + gent
>3 months: trimethoprim
+ gentamicin if complicated UTI
what is edwards/pataus?
edwards 18
patau 13
what are signs of amber risk of illness in kids?
pale >50/40 breaths >160bpm CRT >3 fever
what are signs of red risk of illness in kids?
pale/mottles
>60 RR
reduced skin turgor
fever/seizures/neck stiffness
