Tu 5/30

Question 1

What enzyme is affected in porphyria cutanea tarda (PCT)?

Answer 1

Uroporphyrinogen decarboxylase

Question 2

What accumulates in PCT?

Answer 2

Uroporphyrin

Question 3

How does PCT present?

Answer 3

Tea colored urine, blistering cutaneous photosensitivity

Question 4

What is the most common porphyria?

Answer 4

PCT

Question 5

What is Henoch Shonlein purpura (HSP)?

Answer 5

IgA vasculitis affecting skin and kidneys

Question 6

How does HSP present?

Answer 6

Palpable purpura (butt, legs), joint pain, abd pain (child), hematuria

Question 7

What is the most common childhood systemic vasculitis?

Answer 7

HSP

Question 8

What generally precedes HSP?

Answer 8

URI

Question 9

What nephropathy is HSP associated with?

Answer 9

IgA nephropathy (Berger disease)

Question 10

What is SVC syndrome?

Answer 10

SVC obstruction leads to impaired blood draining from head; facial plethora, JVD, UE edema

Question 11

What are common causes of SVC syndrome?

Answer 11

Malignancy (pancoast tumor), thrombosis (indwelling catheter)

Question 12

What occurs in severe SVC syndrome?

Answer 12

Inc ICP, HA, dizziness, aneurysm, IC artery rupture

Question 13

Name 2 a2 antagonists?

Answer 13

Guanfacine, clonidine

Question 14

What are some uses of a2 antagonists?

Answer 14

HTN urgency, ADHD, Tourette’s

Question 15

What are adverse effects of a2 antagonist?

Answer 15

CNS depression, htn, brady, resp depression, miosis

Question 16

How does flucytosine work?

Answer 16

Inhibits DNA and RNA synthesis by conversion to 5fU by cytosine deaminase

Question 17

What is flucytosine used for?

Answer 17

System fungal infections (esp Crypto meningitis) w amphotericin B

Question 18

What are adverse effects of flucytosine?

Answer 18

BM suppression

Question 19

Which glucose transporter is insulin independent?

Answer 19

GLUT4

Question 20

Where is GLUT4 found?

Answer 20

adipose tissue, striated muscle

Question 21

Which glucose transporter expression can be increased with exercise?

Answer 21

GLUT4

Question 22

Where is GLUT1 found?

Answer 22

RBCs, brain, cornea, placenta

Question 23

Where is GLUT2 found?

Answer 23

B cells, liver, kidney, sm intestine

Question 24

What is unique about GLUT2?

Answer 24

Bidirectional

Question 25

Where is GLUT3 found?

Answer 25

Brain, placenta

Question 26

What does GLUT5 transport and where is it found?

Answer 26

fructose; spermatocytes, GI

Question 27

Does glucose cross the placenta? Insulin?

Answer 27

Yes; No

Question 28

What is Fanconi anemia?

Answer 28

DNA repair defect - BM failure - aplastic anemia

Question 29

What are some features of Fanconi anemia?

Answer 29

short stature, inc incidence tumors/leukemia, cafe au lait spots, thumb/radial defects

Question 30

What is the gene associated with NF 1?

Answer 30

NF1 (neurofibromin); RAS GTPase

Question 31

What is the gene associated w NF 2?

Answer 31

NF2 - Merlin (schwannomin)

Question 32

What are the features of NF1?

Answer 32

Pheochromocytoma, cafe au lait spots, Lisch nodule, cutaneous neurofibroma, optic glioma, scoliosis, mental disabilities

Question 33

What is a Lisch nodule?

Answer 33

Iris hamartoma

Question 34

What are the features of NF2?

Answer 34

Bilateral acoustic schwannoma, cataracts

Question 35

What is the inheritance of neurofibromatosis?

Answer 35

AD