And the story goes Flashcards
congenital rubella s/s
mom w/ arthritic virus in prego
baby w/ sensorineural hearing loss, cardiac defects, cataracts
ddx by infant IgM
congenital varicella s/s
limb hypoplasia
cataracts
skin scarring
rapidly progressive glomerulonephritis light microscopy
crescent formation
PKU
deficiency of phenylalanine hydroxylase
fair, musty, intellectual disability, eczema
rx: low phenylalanine diet
Aldolase B deficiency
hereditary fructose intolerance
NVD, lethargy, sz after introduction of F/V
Diabetic nephropathy on light microscopy
hyalinosis of afferent/ efferent arterioles
wiskott aldrich
x-linked
thrombocytopenia, eczema, recurrent infections
problem with cytoskeletal regulation
wiskott aldrich rx
stem cell transplant
________ are effective for the depressive phase of bipolar (not Li)
second generation antipsychotics
Imipramine moa
tri-cyclic
Citalopram moa
SSRI
galacosemia
presents in first days of life after breast milk/ formula
jaundice, hepatomegaly, failure to thrive
Congenital hypothyroid s/s
large fontanel
failure to thrive
hypotonia
Linear deposits on immunofluorescence
Goodpasture’s
anti-GBM antibody
Granular deposits on immunofluorescence
immune-complex
- SLE
- IgA
- post-infectious