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Pathology > Genetic diseases II > Flashcards

Genetic diseases II Flashcards

1
Q

True or false: AR diseases have much more uniform expression than AD

A

True

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2
Q

True or false: AR diseases often have complete penetrance

A

True

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3
Q

When do AR usually present, early, middle, or late in life?

A

Early

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4
Q

AR proteins usually show what mutation?

A

Loss of function

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5
Q

True or false: all inborn errors of metabolism are AR

A

True

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6
Q

Which are more common, AR or AD diseases?

A

AR

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7
Q

True or false: AD diseases usually skip generations

A

False-AR

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8
Q

Alkaptonuria is the result of a deficiency of what enzyme?

A

Homogentisic acid oxidase

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9
Q

What is the pathogenesis of alkaptonuria?

A

Homogentisic acid binds to cartilage, turning it blue-black

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10
Q

Urine that turns black upon standing = ?

A

alkaptonuria

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11
Q

What is the reaction that homogentisic acid oxidase catalyzes?

A

Homogentisic acid to maleyacetoacetic acid

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12
Q

What is the major symptom of alkaptonuria?

A

Early onset osteoarthritis d/t deposition of homogentisic acid in cartilage

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13
Q

What part of the body is susceptible to the osteoarthritis caused by alkaptonuria?

A

Vertebral discs

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14
Q

True or false: cartilage is the only place where homogentisic acid is deposited?

A

False–tendons as well

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15
Q

Black skin spots around the ears = ?

A

alkaptonuria

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16
Q

What is the general problem in lysosomal storage disease?

A

Lysosomes do not function correctly, thus causing a buildup of materials in a lysosome. This can cause cells death

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17
Q

What is the enzyme that is affected in Tay-sachs?

A

Hexosaminidase A

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18
Q

What is the enzyme that is affected in Gaucher’s disease?

A

Glucocerebrosidase

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19
Q

What is the enzyme that is affected in Niemann-pick disease?

A

Sphingomyelinase

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20
Q

What is the enzyme that is affected in mucopolysaccharidoses?

A

Induronidase

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21
Q

What is the major accumulating metabolite in Tay sachs?

A

CM2 ganglioside

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22
Q

What is the major accumulating metabolite in Gaucher’s disease?

A

glucocerebroside

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23
Q

What is the major accumulating metabolite in Niemann pick disease?

A

Sphingomyelin

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24
Q

What is the major accumulating metabolite in Hurler’s and hutner’s syndrome?

A

Dematan sulfate, heparan sulfate

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25
Q

What is the enzyme deficiency in Hunter’s syndrome? Hurlers?

A 
Hulers = alpha-L-iduronidase
Hunters = L-iduronosulfate sulfatase
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26
Q

What is the enzyme that is affected in Gaucher’s disease?

A

-Beta-Glucocerebrosidase

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27
Q

What is the therapeutic agent for Pompe’s disease?

A

Myozyme

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28
Q

What is the therapeutic agent for Hunter’s syndrome?

A

Elaprase

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29
Q

What is the therapeutic agent for Hurler’s syndrome?

A

Aldurazyme

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30
Q

Tay-Sach’s disease is caused by what mutation in what gene?

A

Frameshift mutation in the HexA gene

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31
Q

What are the symptoms of Tay-sachs? Pathogenesis?

A

MR and blindness after birth d/t accumulation of ganglioside accumulation

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32
Q

When does death occur in pts with Tay-sachs?

A

before age 4

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33
Q

What are the LM histological findings of Tay-sachs?

A

Swollen neurons

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34
Q

Membranous concentric bodies in neurons on EM = ?

A

Tay-sachs disease

35
Q

Cherry red spot = what disease? Why?

A

Tay-sachs or Niemann Picks type A d/t increased deposition

36
Q

What is the cherry red spot?

A

Enhanced macula d/t deposition of material around it. Seen in Tay-sachs and Niemann-Picks type A

37
Q

What is the most common lysosomal storage disease?

A

Gaucher’s disease

38
Q

What is the pathogenesis in Gaucher’s disease?

A

Accumulation of glucocerebrosides (ceramide + glucose) within lysosomes of macrophages

39
Q

On what chromosome is the gene for glucocerebrosidase?

A

1q

40
Q

What are Gaucher cells?

A

Macrophages with accumulation of glucoceramide

41
Q

What are the histological findings of Gaucher’s disease?

A

Macrophages with wrinkled tissue paper appearance

42
Q

Which type of Gaucher’s is most common (1, 2, or 3)? Which is most severe?

A 
1 = most common
2 = most severe
43
Q

Which type(s) of Gaucher’s have neuropathic involvement (1, 2, or 3)?

A

2 and 3

44
Q

What are the symptoms of type 1 Gaucher’s? Pathogenesis?

A

Asymptomatic to skeletal deformities/hepatosplenomegaly d/t macrophage accumulations

45
Q

What are the symptoms of type 2 Gaucher’s?

A

Type III +
Hydrops fetalis
Progressive neuro degeneration

46
Q

What are the symptoms of type 3 Gaucher’s?

A

Parkinsonian

Eye movement disorders

47
Q

Which type of Gaucher’s disease is seen in higher incidence amongst Ashkenazi jews?

A

Type I

48
Q

What are the symptoms of type 1 Gaucher’s? Pathogenesis?

A

Asymptomatic to skeletal deformities/hepatosplenomegally d/t macrophage accumulations

49
Q

What are the symptoms of type 2 Gaucher’s? Pathogenesis?

A

Type III +
Hydrops fetalis
Progressive neuro degeneration

50
Q

What are the symptoms of type 3 Gaucher’s? Pathogenesis?

A

Parkinsonian

Eye movement disorders

51
Q

What is the treatment for Gaucher’s disease?

A

Imiglucerase (cerezyme)

52
Q

What is the mutation of type A and B Niemann-Pick’s disease? What is the gene affected?

A

Missense mutation in acid sphingomyelinase

53
Q

What is the mutation of type C Niemann-Pick’s disease? What is the gene affected?

A

Deficiency in cholesterol transport–NOT an enzyme defect

54
Q

What are the symptoms of type A Niemann-Picks disease?

A

Neurological defects

55
Q

What are the symptoms of type B Niemann-Picks disease?

A

Hepatosplenomegaly

No CNS involvement

56
Q

What is the mutation of type A and B Niemann-Pick’s disease?

A

Missense mutation in acid sphingomyelinase

57
Q

What are the symptoms of type B Niemann-Picks disease?

A

Hepatosplenomegaly

No CNS involvement

58
Q

In what cells does sphingomyelin accumulate in Niemann-Picks disease?

A

Macrophages

59
Q

Zebra body macrophages = what disease?

A

Niemann-Picks

60
Q

What is the mutation in type C Niemann-Picks disease? What does this cause? What is deposited in macrophages?

A

NPC1–defect in choleserol transport, causing increased deposition of GM1 and GM2

61
Q

Which is most common Type A, B or C of Niemann-Picks disease?

A

Type C

62
Q

What are the symptoms of type C Niemann-Picks disease?

A

Progressive neurological damage (ataxia, dystonia etc)

63
Q

What is NP1 protein in Niemann picks type C?

A

G-coupled protein receptor to get cholesterol out of the lysosome

64
Q

What is NP2 protein in Niemann picks type C?

A

Transporter of cholesterol

65
Q

As pts with Niemann-Picks disease age, what happens to their neurological symptoms? Systemic symptoms?

A

Systemic go down

Neuro go up

66
Q

What are the four major diseases that have an increased incidence in the Ashkenazi Jewish population?

A
  1. CF
  2. Gaucher’s disease
  3. Niemann-Pick
  4. Taysachs
67
Q

What is the general problem with mucopolysaccharidoses?

A

Defect in lysosomal enzymes that degrade mucopolysaccharides, causing a buildup in lysosomes of muscle tissues

68
Q

Which has a milder course: Hurler’s or Hunter’s syndrome?

A

Hunter

69
Q

What are the histological characteristics of MPS?

A

cleared cytoplasm in cells

70
Q

What is the inheritance pattern for Hunters syndrome? Hurlers?

A 
Hunters = XLR
Hurler's = AR
71
Q

What are the symptoms of Hurler’s syndrome? (2)

A

Gargoyle children with EITHER progressive MR OR aortic valve problems

subendothelial arterial deposits in the coronary arteries

72
Q

What are the symptoms of Hunter’s syndrome? (2)

A

mild hepatosplenomegaly

subendothelial arterial deposits in the coronary arteries

73
Q

What symptom is common to Hurler’s and Hunter’s syndrome?

A

subendothelial arterial deposits in the coronary arteries

74
Q

Which has corneal clouding: Hurler’s or Hunter’s syndrome?

A

Hurler’s

75
Q

True or false: there is an enzyme replacement therapy for both Hurler’s and Hunter’s syndrome

A

True

76
Q

What is the enzyme deficiency in von Gierke’s disease, (type I), and what does this cause (3)?

A

Glucose-6-phosphatase

Hepatomegaly, hypoglycemia, hyperlipidemia,

77
Q

What is the enzyme deficiency in Pompe’s disease, (type III), and what does this cause (3)?

A

Acid maltase

Floppy baby, Cardiomegally, cardiorespiratory failure

78
Q

What are the names of Type I, III, and V GSDs?

A 
I = Von Gierke's disease
V= McArdle's disease
III = Pompe's disease
79
Q

What is the enzyme deficiency in McArdle’s disease, (type V), and what does this cause (2)?

A

Muscle phosphorylase

Painful cramps with exercise +myoglobin uria

80
Q

Floppy baby + glossomegaly + cardiomegaly = ?

A

Pompe’s disease (type III GSD)

81
Q

What is the stain used to highlight carbs?

A

PAS

82
Q

Hepatomegaly + Xanthomas + gout + hypoglycemia + hyperlipidemia + convulsion = what disease?

A

Type I GSD (von Gierke’s)

83
Q

True or false: McArdle’s syndome have normal muscle strength

A

True

Pathology (32 decks)

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