Tu 5/30 Flashcards
What enzyme is affected in porphyria cutanea tarda (PCT)?
Uroporphyrinogen decarboxylase
What accumulates in PCT?
Uroporphyrin
How does PCT present?
Tea colored urine, blistering cutaneous photosensitivity
What is the most common porphyria?
PCT
What is Henoch Shonlein purpura (HSP)?
IgA vasculitis affecting skin and kidneys
How does HSP present?
Palpable purpura (butt, legs), joint pain, abd pain (child), hematuria
What is the most common childhood systemic vasculitis?
HSP
What generally precedes HSP?
URI
What nephropathy is HSP associated with?
IgA nephropathy (Berger disease)
What is SVC syndrome?
SVC obstruction leads to impaired blood draining from head; facial plethora, JVD, UE edema
What are common causes of SVC syndrome?
Malignancy (pancoast tumor), thrombosis (indwelling catheter)
What occurs in severe SVC syndrome?
Inc ICP, HA, dizziness, aneurysm, IC artery rupture
Name 2 a2 antagonists?
Guanfacine, clonidine
What are some uses of a2 antagonists?
HTN urgency, ADHD, Tourette’s
What are adverse effects of a2 antagonist?
CNS depression, htn, brady, resp depression, miosis
How does flucytosine work?
Inhibits DNA and RNA synthesis by conversion to 5fU by cytosine deaminase
What is flucytosine used for?
System fungal infections (esp Crypto meningitis) w amphotericin B
What are adverse effects of flucytosine?
BM suppression
Which glucose transporter is insulin independent?
GLUT4
Where is GLUT4 found?
adipose tissue, striated muscle
Which glucose transporter expression can be increased with exercise?
GLUT4
Where is GLUT1 found?
RBCs, brain, cornea, placenta
Where is GLUT2 found?
B cells, liver, kidney, sm intestine
What is unique about GLUT2?
Bidirectional
Where is GLUT3 found?
Brain, placenta
What does GLUT5 transport and where is it found?
fructose; spermatocytes, GI
Does glucose cross the placenta? Insulin?
Yes; No
What is Fanconi anemia?
DNA repair defect - BM failure - aplastic anemia
What are some features of Fanconi anemia?
short stature, inc incidence tumors/leukemia, cafe au lait spots, thumb/radial defects
What is the gene associated with NF 1?
NF1 (neurofibromin); RAS GTPase
What is the gene associated w NF 2?
NF2 - Merlin (schwannomin)
What are the features of NF1?
Pheochromocytoma, cafe au lait spots, Lisch nodule, cutaneous neurofibroma, optic glioma, scoliosis, mental disabilities
What is a Lisch nodule?
Iris hamartoma
What are the features of NF2?
Bilateral acoustic schwannoma, cataracts
What is the inheritance of neurofibromatosis?
AD
