haemochromatosis Flashcards

1
Q

iron deposistion in pancreas

A

diabetes milliyus

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2
Q

iron deposition in liver

A

cirrhosis

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3
Q

iron deposition in pitutary

A

hypogonadism

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4
Q

symptoms of haemochromatosis

A

hyperpigmentation
arthralgia
organ deposition symptoms : dm ,cirrhosis ,ED etc

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5
Q

gene og haemochromatosis

A

HFE gene on chromosome SIX

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6
Q
A
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7
Q

DX of haemochromatosis

A

tranferrin >sixty
ferritin >500
and genetic testing

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8
Q

ceruloplasmin

A

wilsons disease Cu

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9
Q

haemchromatosis hallmarks

A

tan
liver deranged
erectile dysfunction
dm
arthralgia

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10
Q

haemachromatosis iron labs (fitt)

A

ferritin >500 ug/l
iron > 30 umol/l
transferrin > sixty percent
tibc < 20 umol/l

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11
Q

haemchromatosis age

A

50 s

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12
Q

haemachromatosis aka

A

bronze diabetes

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13
Q

hemchromatosis white population genetic pattern

A

pseudodominant inheritance

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14
Q

haemacromatosis african gene inheritance

A

auto dom

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15
Q

general haemchromatosis gene inheritance

A

auto RECC

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16
Q

Haemachromatosis mutations

A

C282Y
H SIXTY THREE D

17
Q

gamma GT lft increases in ?

A

obstructive jaundice

18
Q

ferritin elevation cause

A

liver
muscle damage

19
Q

patho
haemochromatosis

A

reduced
hepcidin
and
mutation of C282Y