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Pathology Exam III > Genetic Diseases II > Flashcards

Genetic Diseases II Flashcards

1
Q

examples of autosomal recessive disorders

A

lysosomal storage disease
glycogen storage disease
alkaptonuria

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2
Q

characteristics of autosomal recessive disorders

A

uniform expression
complete penetrance
early onset
proteins show loss of function

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3
Q

what does alkaptonuria look like

A

black blue pigmentation

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4
Q

alkaptonuria is a defiency of waht

A

homogentisic acid oxidase

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5
Q

what is binding to collagen in alkaptonuria

A

homogentisitc acid

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6
Q

what does urine look like in alkaptonuria

A

turns black if allowed to stand and oxidize or if you add an alkali

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7
Q

what serious disease can alkaptonuria cause

A

degenerative arthropathy

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8
Q

degenerative arthropathy

A

like severe osteoarthiritis at an early age

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9
Q

what does alkaptonuria look like histologically

A

yellow-brown

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10
Q

what do lysosomal storage disease come from

A

failure of catabolism of large molecules within lyososmes

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11
Q

what are examples of lysosomal storage disease

A

tay sachs
gaucher
neimann pick
mucopolysaccharidoses

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12
Q

how do you treat lysosomal storage disease

A

enzyme replacement therapy

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13
Q

tay sachs is common in what population

A

ashkenazi jew

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14
Q

what is tay sachs caused by

A

framshift mutation in HexA gene

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15
Q

what does muation on HexA gene cause

A

lack of hexosaminidase A causing accumulation of GM2 ganglioside

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16
Q

what is seen in babies with tay sachs

A

seem normal but develop retardation and blidness, brain enlarges

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17
Q

when does death occur in tay sachs

A

before age 4

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18
Q

what does light microscopy show in tay sachs

A

pale, swollen (ballooned) neurons

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19
Q

what is a characteristic feature of tay sachs

A

cherry red spots

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20
Q

what is the most common lysosomal storgae disorder

A

gaucher

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21
Q

gaucher disease is caused by a mutation in what

A

gene encoding for enzyme beta-glucocerebrosidase on chromosome 1q

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22
Q

what is happening in gaucher diesae

A

you get an accumulation of macrophages and you can’t break down sugars

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23
Q

what are guacher cells

A

huge macrophages that are bloated with glucerebroside

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24
Q

where do gaucher cells accumulate

A

spleen, liver, and bone marrow

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25
Q

what do cells affected by gauche rlook like

A

wrinkled tissue paper/crinkled cigarette paper

26
Q

what is the most common type of guacher

A

type I

27
Q

type I guacher

A

adult
common in askenazi jews
compatitive with long healthy life

28
Q

what are some common symptoms of gaucher

A

splenohepatomegaly

excruiting bone pain

29
Q

type II guacher

A

severe

onset in first year of life

30
Q

type III guacher

A

moderate to severe

onset in childhood

31
Q

how do you test for guacher

A

bone marrow bipsy and aspiration to look for gaucher cells

32
Q

how can you treat gauchers

A

imiglucerase

33
Q

how can you treat gauchers

A

imiglucerase

34
Q

nimann-pick disease is caused by a problem on what chromosome

A

11

35
Q

type A niemann pick is what type of mutation

A

missense

36
Q

what does the missense mutation in type A neimann pick cause

A

severe accumulation of spingomyelin, foamy cyptoplasm with zebra bodies

37
Q

type C neimann pick is caused by

A

deficieny in cholersterol transport

38
Q

type A and B neimann pick is caused by

A

defiency in sphingomyelinase

39
Q

what are symptoms of neimann pick type A

A

neurologic signs
splenohepatomegally
enlarged lymph nodes

40
Q

whare are symptoms of neimann pick type B

A

survive into adulthood
no CNS involvement
splenohepartomegay

41
Q

what is the most common type of niemann pick disease

A

type C

42
Q

neimann pick type C is caused by a mutation in

A

NPC1 and NPC2 genes

43
Q

neimann pick type C causes a defect in what

A

nonenzymatic lipid trasport

44
Q

what are symptoms of neimann pick type C

A

hydrop fetalis
neonatal hepatitis
chronic progressive neurological damge

45
Q

what is the childhood presentatio nof neimann pick type C

A

atazia
dystonia
psychomotor deterioation

46
Q

what are the disease that disprportionately affect ashkenzai jews

A

cystic fibrosis
gaucher
niemann-pick
tay sach

47
Q

MPS

A

defiecnt lysosomal enzymes that degrade mucopolysacchraides

48
Q

MPS 1-H (hurler syndrome)

A

most severe

defiency of alpha L iduronidase

49
Q

MPS II (hunter syndrome)

A

milder

defiency of L-iduronidate sulfatase

50
Q

where does MPS acculate

A

in lysosomes of RES and smooth muscle cells throughout the body

51
Q

Sanfilippo

A

severe mental retardation, near normal looking

52
Q

Morquio

A

dwarf, with bad aortic bales and normal IQ

53
Q

how is hunter syndrome passed on

A

x-linked

54
Q

what is the key sign of MPS

A

subendothelial arterial deposities - especially in coronary arteries

55
Q

What are teh 3 glycogen storage diseases we need to know

A

von Gierke
Pompe
McArdle

56
Q

pompe disease is also called

A

type II glycogenosis

57
Q

what are problems assocaited with pompe disease

A

very compromised heart and skeletal muscle
progessie cardiomyopathy
massive cardiomegaly

58
Q

infantile onset of pompe diseas look like

A

floppy baby

big tongue

59
Q

von gierke disease

A

defiency glucose 6 phosphates

60
Q

what are the symptoms of von gierke disease

A

hepatomegaly
hypoglycemia
gout
convusions

61
Q

mcardle syndrome

A

defiencent muscle glycogen phosphrylase

Pathology Exam III (10 decks)

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