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Year 1 Pathology > Genetic disorders II > Flashcards

Genetic disorders II Flashcards

1
Q

what enzyme is defective in Tay Sachs disease?

A

hexosaminidase A

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2
Q

what product is built up in Tay Sachs disease?

A

gangliosides

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3
Q

what tissue is affected in Tay Sachs disease? what is the histologic appearance?

A
  1. CNS neurons 2. balooned out
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4
Q

what enzyme is defective in gaucher disease?

A

glucocerebrosidase

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5
Q

what product is built up in gaucher disease?

A

glucocerebrosides (glucose + ceramide)

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6
Q

what tissue is affected in gaucher disease? what is the histologic appearance?

A
  1. RES (spleen, liver, bone marrow) 2. crinkled tissue paper (granular, fibrillary)
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7
Q

what enzyme is defective in niemann pick disease?

A

sphingomyelinase

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8
Q

what product is built up in niemann pick disease?

A

sphingomyelin cholesterol

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9
Q

what enzyme is defective in Hurler’s or Hunter’s disease?

A

a-L-iduronidase or L-iduronidate sulfatase

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10
Q

what product is built up in hurler’s or hunter’s disease?

A

mucopolysaccharides

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11
Q

what tissue is affected in hurler’s or hunter’s disease? what is the histologic appearance?

A
  1. CNS, eye, RES, BV, heart 2. foam cells
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12
Q

what enzyme is defective in pompe disease?

A

a-1,4-glucosidase (acid maltase)

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13
Q

what product is built up in pompe disease?

A

glycogen

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14
Q

what tissue is affected in pompe disease? what is the histologic appearance?

A
  1. heart, SM 2. clear
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15
Q

what enzyme is defective in von gierke disease?

A

glucose-6-phosphatase

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16
Q

what tissues are affected in von gierke disease? what is the histologic appearance?

A
  1. liver, kidney, skin 2. foamy, vacuolated
17
Q

what tissue is affected in niemann pick disease? what is the histologic appearance?

A
  1. CNS, RES 2. foamy, vacuolated (zebra bodies)
18
Q

what are the features of autosomal recessive inheritance?

A
  1. uniform expression 2. complete penetrance 3. early onset 4. loss of function (protein) 5. both sexes involved 6. skips generations
19
Q

what enzyme is defective in alkaptonuria?

A

homogentisic acid oxidase

20
Q

what product accumulates in alkaptonuria? what is the effect?

A
  1. homogentisic acid 2. binds to collagen in CT, tendons, cartilage to form blue-black pigmentation
21
Q

degenerative arthropathy is a complication of what disease?

A

alkaptonuria

22
Q

the lysosomal storage diseases display what type of inheritance?

A

autosomal recessive

23
Q

what is the mutation involved in Tay Sachs disease? what chromosome is it on?

A
  1. frameshift mutation in HexA gene 2. chromosome 15
24
Q

what are the clinical signs of tay sachs disease?

A

mental retardation, large head, blindness, cherry red macula

25
Q

what are the clinical signs of gaucher disease?

A

massive liver, spleen, lymph nodes, skeletal problems,

26
Q

imiglucerase is a drug therapy for what disease?

A

gaucher disease

27
Q

what type of mutation is associated with niemann pick disease?

28
Q

what are zebra bodies?

A

niemann pick disease - engorged lysosomes on EM view with concentric lamellated myelin figures

29
Q

niemann pick type C is characterized by a deficiency in what process?

A

cholesterol transport

30
Q

what are the clinical signs of niemann pick type A disease?

A

hepatosplenomegaly, enlarged lymph nodes, retinal cherry red spot, shrunken brain gyri, widened sulci

31
Q

what are the clinical signs of niemann pick type C disease?

A

neonatal hepatitis, progressive neurological damage

32
Q

the mucopolysaccharidoses are characterized by inability to degrade what substance?

A

glycosaminoglycans

33
Q

what is the primary complication of the mucopolysaccharidoses?

A

subendothelial arterial deposits in coronary arteries

34
Q

Hurler syndrome shows what type of inheritance? Hunter’s?

A
  1. autosomal recessive 2. XLR
35
Q

what are the morphologic changes of von gierke disease? untreated clinical features?

A
  1. hepatomegaly, renomegaly, intracytoplasmic accumulations 2. failure to thrive, stunted growth, hypoglycemia, hyperlipidemia, xanthomas, bleeding tendency
36
Q

what are the morphologic changes of mcardle disease? untreated clinical features?

A
  1. skeletal muscle only - glycogen accumulation in sarcolemma 2. painful cramps associated with strenuous exercise
37
Q

what are the morphologic changes of pompe disease? untreated clinical features?

A
  1. mild hepatomegaly, ballooning lysosomes, cardiomyopathy 2. massive cardiomegaly, muscle hypotonia, cardiorespiratory failure within 2 years
38
Q

the mutated gene for pompe disease is located on what chromosome?

Year 1 Pathology (25 decks)

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