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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
Q

non-neuropathic type of gaucher disease

A

Type I

1/40,000

26
Q

neuronopathic gaucher

A

type III and II

1/100,000

27
Q

adult gaucher disease compatible with long health life

A

type I

1/850 ashkenazi jews

28
Q

romantic fractures

A

gaucher disease

skeletal problems and excruciating bone pain

also enlarged liver and spleen

29
Q

most severe neurological effect gaucher disease

A

type II

30
Q

ensyme replacement therapy with imiglucerase (cerezyme)

A

gauchers disease

31
Q

which chromosome (mom or dad) is mutated with niemman pick disease

A

mom is mutant and dad is epigenetically silenced

32
Q

missense mutation of sphingomyelinase gene

A

type A niemann-pick disease

33
Q

foamy vacuolated cytoplasm with concentric lamellated myelin figures known as zebra bodies

A

type A niemann pick

34
Q

type A and B niemann pick v. type C niemann pick

A

A and B: deficiency in sphingomyelinase

type C: deficiency in cholesterol transport, NOT an enzyme defect

35
Q

niemann pick with no CNS involvement, just large livers and spleens

A

type B

36
Q

niemann pick with childhood death and shrunken gyri/widened sulci

A

niemann-pick

37
Q

most common niemann pick

A

type C

chronic progressive neurologic damage due to lysosomal accumulation due to defect in lipid transport

38
Q

genetic disease disproportionately affecting the ashkenazi jews include ->

A

cystic fibrosis
gaucher disease
niemann-pick disease
tay-sachs disease

39
Q

deficiency of alpha-L-iduronidase

A

MPS 1-H

Hurler

40
Q

deficiency of L-iduronidat sulfatase

A

MPS II

Hunter

the milder one

41
Q

“gargoyle children”

A

hurler syndrome

progressive mental retardation

42
Q

Sanfilippo syndrome

A

severe mental retardation, near normal looking

MPS

43
Q

morquio syndrome

A

dwarve with bad aortic valve and normal IQ

MPS

44
Q

X linked MPS

A

Hunter syndrome

45
Q

type I glycogen storage disease

A

von Gierke

46
Q

type II glycogen storage disease

A

pompe

47
Q

type V glycogen storage disease

A

mcardle

48
Q

deficiency in phosphorylase

A

mcardle syndrome

49
Q

deficiency in lysoosmal acid maltase

A

pompe disease

50
Q

deficiency in glucose 6 phosphatase

A

von Gierke disease

51
Q

floppy at birth, big tongue, EKG with gigantic QRS complexes, cardiomegaly

A

pompe disease

52
Q

hepatomegaly and hypoglycemia, xanthomas, gout

A

type I von gierke disease

53
Q

muscle weakness, cramps after exercise, no rise in serum lactate levels after exercise

A

type V McArdle syndrome

Pathology III (7 decks)

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