porphyria

Question 1

rare disorders that affect heme synthesis

Answer 1

porphyria

Question 2

if enzyme missing/defiant=

Answer 2

no heme made or decreased amounts

Question 3

buildup of precursors =

Answer 3

causes lots of symptoms

Question 4

what does porphyria affect

Answer 4

nervous or cutaneous system or BOTH

Question 5

can be inherited or acquired

Answer 5

porphyria

Question 6

how does a porphyria begin

Answer 6

triggered by stress, antibiotics, toxic substances, pregnancy, alcohol

Question 7

what is the most sig buildup

Answer 7

porphobilinogen
uroporphyrinogen
protoporphyrinogen 3

Question 8

structure of porphyria

Answer 8

alternating double bonds
4 chiral rings joined together

Question 9

porphyria absorbs visible light

Answer 9

purple or dark red

cause RBC and teeth to fluorescent

chelate metal ions and cause symptoms

Question 10

pathological

Answer 10

many who have gene don’t express porphyria illness

can be triggered

Question 11

how is it diagnosed?

Answer 11

excretion of metabolites

-check urine or feces for increases of porphyrin

Question 12

where is uroporphyrin excreted

Answer 12

urine

Question 13

where is protoporphyrinogen excreted

Answer 13

feces

Question 14

where is coproporphyrinogen excreted?

Answer 14

urine and feces

Question 15

where is ALA delta aminolevulinic acid

Answer 15

urine

Question 16

enzyme early on in pathway

Answer 16

nervous system

Question 17

enzyme further down in pathway

Answer 17

cutaneous symptoms –
photosensitivity 1st common symptoms

Question 18

acute porphyria

Answer 18

neurological
symptoms come on acutely
-acute abdominal pain
-muscle weakness

extreme case: coma and death

Question 19

syndrome of inappropriate antidiuretic hormone (vasopressin)

Answer 19

increases in amounts of antidiuretic hormone

decreases in Na– leads to G.I symptoms and neurological chains

-makes you retain water

last days to weeks

Question 20

how to treatment acute porphyria

Answer 20

no medication to cure due to enzyme lack

-stay away from trigger!

Question 21

1 type of acute porphyria

Answer 21

acute intermittent porphyria

seen in: sweden, netherlands

Question 22

what is defect in acute intermittent porphyria

Answer 22

buildup of ALA and porphobilinogen= urine

porphyrin absorb visible light= reddish/purple urine– port wine color

Question 23

cutaneous porphyria

Answer 23

buildup of porphyrin in skin

photosensitivity absorb visible light= #1 symptom

Question 24

what happens in cutaneous

Answer 24

blisters and sunburns

increase facial hair due to defect in heme synthesis chain

Question 25

most common cutaneous porphyria

Answer 25

porphyria cutanea tarda

Question 26

what happens in porphyria cutanea tarda

Answer 26

blister on skin hypopigmentation and disfiguring of extremities (most exposed to light)

Question 27

how is porphyria cutanea tarda obtained

Answer 27

inherited and acquired acquired- hep. c and contraceptives and iron overload

Question 28

liver involvement in porphyria cutanea tarda

Answer 28

buildup of hemosiderin and necrosis of the liver

Question 29

erythropoietic protoporphyria

Answer 29

accumulate in RBC -look at RBC and flursconct due to absorb visible light buildup of protoporphyrinogen(onset adults)

Question 30

congenital erythropoietic is also called

Answer 30

gunther's disease

Question 31

congenital erythropoietic

Answer 31

-hereditary and see in infancy in sun and UV lights babies will scream will develop pain and blisters vampire!!

Question 32

characteristics of congenital erythropoietic

Answer 32

teeth like a vamp misshapen heads erythrodontia= teeth absorb UV light and turn red

Question 33

congenital erythropoietic excret

Answer 33

copro and uro

Question 34

hemolytic anemias

Answer 34

increase in porphyrins and lead to splenomegaly

Question 35

variegate porphyria (w/ variety)

Answer 35

cutaneous and neurological symptoms independently of each other autosomal dominant inheritance misdiagnosed with buildup of metabolites depending on symptoms

Question 36

variegate porphyria neurological

Answer 36

porphobilinogen

Question 37

variegate porphyria cutaneous

Answer 37

proto and coproporphyrinogen

Question 38

secondary porphyrias

Answer 38

no genetic components due to exposure of certain chemicals and looks like porphyria

Question 39

what is the #1 secondary porphyria

Answer 39

lead poisoning from paint chips

Question 40

lead poisoning

Answer 40

occupational hazard for painters and being around lead based pipes -lead can stay in bones, teeth, tissues for long time

Question 41

can a preg lady give lead poisoning to her baby

Answer 41

yes

Question 42

lead poisoning inhibits

Answer 42

heme chain at ALA and ferrochelatase enzyme and stops iron going into Hgb HGB molecule needs something in core: replace iron with zinc

Question 43

what do you end up with in lead poisoning

Answer 43

zinc protoporphyrin (erythrocyte zinc)??

Question 44

detect lead poisoning by

Answer 44

basophilic stippling hypochromic, microcytic RBC's resembles IDA-- its not do not want more iron

Question 45

body during lead poisoning

Answer 45

iron increases buildup not getting in transferrin decreases bound with iron % saturation increases because more iron total binding Fe capacity decreases (no room)

Question 46

how to differentiate with IDA and lead poisoning

Answer 46

% saturation (IDA will be low) look at lead levels --chelation therapy preformed

Question 47

lab testing porphyrias

Answer 47

look at increases in analytes present in urine or stool also ALA increased (neurological)

Question 48

urine for testing porphyrias

Answer 48

must be in dark container and not exposed to light before testing bc will absorb light

Question 49

what test helps differentiate porphyrias

Answer 49

watson-schwartz urobilinogen- normal porphobilinogen- porphyria

Question 50

how to perform watson-schwartz? screening

Answer 50

urine sample-- add ehrlich's reagent screen turns red= may have uro or porp present stays yellow= done if light colors-- add sodium acetate to enhance color

Question 51

once urine is red add

Answer 51

spilt into 2 tubes add butanol in one add chloroform in the other butanol will float to top because density is lighter than urine chloroform sinks to the bottom

Question 52

how to read watson-schwatz test

Answer 52

if in both tubes red remains in area added= urobilinogen if red remains in urine part= porphobilinogen