256 p205 Flashcards
Thrombotic thrombocytopenia purpura presents with classic pentad of
thrombocytopenia microangiopathic hemolytic anemia neurologic symptoms kidney failure, and fever.
G6PD defficiency Dx Screening test:
fluorescent spot test
result can say “test fails to fluoresce under ultraviolet light”
that means that is +
G6PD defficiency Dx
Confirmatory test:
quantitative G6PD enzyme analysis
Ideally, both the screening and confirmatory tests should be performed during remission. Cuz during hemolisis they can be false negative
G6PD defficiency is common among
black population
Which clinical characteristic of a murmur is consistent with an innocent murmur?
Attenuated with change in body position
the most common innocent murmur in
children between the ages of 2 and 6 years is called _________.
It is systolic or Dyastolic?
It has a distinctive vibratory quality or a _____sound, which gives it a _____character.
Stillʹ′s murmur
systolic
twanging
musical
Galactosemia
age of symptoms onset and CxFx
typically presents in the second half of the first week of life with
features of hypoglycemia including vomiting, jaundice, cyanosis, jitteriness, and seizures.
The liver is usually enlarged.
Demonstration of a reducing substance in urine of a neonate with hypoglycemia makes _______ a highly likely diagnosis.
galactosemia
classic galactosemia. CxFx
jaundice, cataracts, vomiting, diarrhea, and poor weight gain in a
breastfed neonate
Galactosemia is caused by a deficiency of the enzyme:
galactose-1-phosphate
uridyltransferase
What enzyme deficiency diseases result in excretion of their respective sugar in the urine without major
systemic symptoms?
Galactokinase, causing galactosuria, sometimes cataract.
fructokinase deficiency leads to essential
fructosuria
NMT: “Fruits from the Galapagos are kind”
