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Pathology III > 33: Genetic diseases II > Flashcards

33: Genetic diseases II Flashcards

1
Q

deficiency of homogentisic acid

A

alkaptonuria

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2
Q

blue-black pigmentation in ears and nose, urine turns black

A

alkaptonuria

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3
Q

degenerative arthrpathy that spares small joints

A

homogentisic acid deposits turn into brittle and flakes especially in IV discs

alkaptonuria

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4
Q

what builds up in alkaptonuria?

A

homogentisic acid

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5
Q

what type of disease is alkaptonuria?

A

autosomal recessive

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6
Q

lack of hexosaminidase A

A

tay sachs disease

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7
Q

lack of flucoerebrosidase

A

gaucher disease

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8
Q

lack of sphingomyelinase

A

niemann pick disease

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9
Q

lack of induronidase

A

mucopolysaccharidoses

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10
Q

accumulation of GM2 ganglioside

A

tay sachs disease

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11
Q

accumulation of glucocerebroside

A

gaucher disease

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12
Q

accumulation of sphingomyelin

A

niemann-pick disease

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13
Q

accumulation of dermatan sulfate, heparan sulfate

A

MPS I Hurler

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14
Q

1/30 ashkenazi jew is a carrier

A

tay sachs disease

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15
Q

tay sachs disease affects neurons particularly in the

A

retina

become blind and retarded after birth with death before age 4

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16
Q

light microsocopy shows pale, swollen ballooned neurons

A

tay sachs disease

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17
Q

frameshift mutation in HexA gene on chromosome 15

A

tay sachs disease

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18
Q

TAY SACHS

A

Testing recommended

Autosomal recessive

Young death

Spot in macula (cherry red spot)

Ashkenazi Jews

CNS degeneration

Hex A deficiency

Storage disease

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19
Q

cherry red spot

A

tay sachs disease

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20
Q

membranous concentric bodies

A

tay sachs disease

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21
Q

most common lysosomal storage disorder

A

gaucher disease

autosomal recessivve

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22
Q

mutation in gene encoding for b glucocerebrosidase on chromosme 1

A

gaucher disease

this enzyme breaks down glucocerebroside into glucose and ceramide

23
Q

huge macrophages bloated with glucocerebroside accumulatin in spllen liver and bone marrow

A

gaucer cells

24
Q

wrinkled tissue paper or crikled cigarrette paper macrophages

A

gaucher disease

25
non-neuropathic type of gaucher disease
Type I 1/40,000
26
neuronopathic gaucher
type III and II 1/100,000
27
adult gaucher disease compatible with long health life
type I 1/850 ashkenazi jews
28
romantic fractures
gaucher disease skeletal problems and excruciating bone pain also enlarged liver and spleen
29
most severe neurological effect gaucher disease
type II
30
ensyme replacement therapy with imiglucerase (cerezyme)
gauchers disease
31
which chromosome (mom or dad) is mutated with niemman pick disease
mom is mutant and dad is epigenetically silenced
32
missense mutation of sphingomyelinase gene
type A niemann-pick disease
33
foamy vacuolated cytoplasm with concentric lamellated myelin figures known as zebra bodies
type A niemann pick
34
type A and B niemann pick v. type C niemann pick
A and B: deficiency in sphingomyelinase type C: deficiency in cholesterol transport, NOT an enzyme defect
35
niemann pick with no CNS involvement, just large livers and spleens
type B
36
niemann pick with childhood death and shrunken gyri/widened sulci
niemann-pick
37
most common niemann pick
type C chronic progressive neurologic damage due to lysosomal accumulation due to defect in lipid transport
38
genetic disease disproportionately affecting the ashkenazi jews include ->
cystic fibrosis gaucher disease niemann-pick disease tay-sachs disease
39
deficiency of alpha-L-iduronidase
MPS 1-H Hurler
40
deficiency of L-iduronidat sulfatase
MPS II Hunter the milder one
41
"gargoyle children"
hurler syndrome progressive mental retardation
42
Sanfilippo syndrome
severe mental retardation, near normal looking MPS
43
morquio syndrome
dwarve with bad aortic valve and normal IQ MPS
44
X linked MPS
Hunter syndrome
45
type I glycogen storage disease
von Gierke
46
type II glycogen storage disease
pompe
47
type V glycogen storage disease
mcardle
48
deficiency in phosphorylase
mcardle syndrome
49
deficiency in lysoosmal acid maltase
pompe disease
50
deficiency in glucose 6 phosphatase
von Gierke disease
51
floppy at birth, big tongue, EKG with gigantic QRS complexes, cardiomegaly
pompe disease
52
hepatomegaly and hypoglycemia, xanthomas, gout
type I von gierke disease
53
muscle weakness, cramps after exercise, no rise in serum lactate levels after exercise
type V McArdle syndrome

Pathology III (7 decks)

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