AR + X-linked lysosomal storage diseases Flashcards

1
Q

X-linked

deficient α-galactosidase →↑ ceramide trihexoside

A

Fabry disease

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2
Q

early childhood pain: damage to peripheral nerves associated with peripheral neuropathy (hands, feet)
abdominal pain: lipid accumulation in GI blood vessels → ischemia
renal failure
HTN
cardiomyopathy
angiokeratomas (painless papules, low ab/buttocks/groin)

A

Fabry disease

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3
Q

angiokeratomas painless papules, low ab/buttocks/groin)

renal failure

A

Fabry disease

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4
Q

most common lysosomal disorder

A

Gaucher disease

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5
Q

glucocerebrosidase deficiency→ ↑ glucoerebroside (lipid-like, builds up in macrophages, spleen, liver, kidneys, lungs, BM)

A

Gaucher disease

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6
Q
hepatosplenomegaly
painful bony lesions
anemia
fatigue
thrombocytopenia (due to large spleen)
macrophages have cytoplasmic, lipid-laden blue fibrils
A

Gaucher disease

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7
Q

macrophages with “crumpled tissue paper” cytoplasm

A

Gaucher cells - Gaucher disease

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8
Q

sphingomyelinase deficiency →↑ sphingomyelin (lipid-like)

A

Niemann-Pick disease

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9
Q
HEPATOSPLENOMEGALY
thrombocytopenia
lot of CNS accumulation: 
ataxia
dysarthria
dysphagia
worsening intellectual function
"cherry red" spots on macula
foam cells
A

Niemann-Pick disease

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10
Q

“cherry-red” spots on macula

A

Niemann-Pick disease: accumulation of substrate in cell layers of retina around the macula
OR tay sachs disease

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11
Q

foam cells (lipid-laden macrophages)

A

Niemann-Pick disease

small vacuoles → cyto looks foamy

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12
Q

hexosaminidase A →↑ GM2 ganglioside

A

tay sachs disease

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13
Q
progressive worsening of mental and physical abilities around 6 mo (for infantile type)
death by 4 years
less severe: onset later
"cherry red" spot on macula
NO HEPATOSPLENOMEGALY (not NPD)
A

tay sachs disease

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14
Q

galactocerebrosidase →↑galactocerbroside

A

Krabbe disease

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15
Q
affects myelin sheaths:
peripheral neuropathy
seizures
optic atrophy
weakness
developmental delay
onset: 3-6 mo
death before 2 yo
A

Krabbe disease

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16
Q

arylsulfatase →↑ cerebroside sulfate

A

metochromatic leukodystrophy

17
Q
affects myelin sheaths (similar to Krabbe):
muscle wasting
weakness
progressive vision loss
dementia
onset: >1 yo
A

metochromatic leukodystrophy

18
Q

α-L-iduronidase →↑ heparin sulfate and dermatan sulfate

A

Hurler syndrome

19
Q
progressive deterioration
coarse facial features
hepatosplenomegaly
ID
short (like dwarfism)
corneal clouding → visual loss
onset: 6 mo
A

Hurler syndrome

20
Q

corneal clouding

A

Hurler syndrome

21
Q

X-linked

iduronate sulfatase→↑heparin sulfate, dermatan sulfate

A

Hunter syndrome

22
Q

2 x-linked lysosomal storage diseases

A

Fabry disease

Hunter disease

23
Q

milder form of Hurler
later onset: 1-2 yo
NO CORNEAL CLOUDING
MORE aggressive behavior

A

Hunter syndrome

24
Q

optic atrophy

A

krabbe disease

25
Q

LSD with accumulation of dermatan sulfate

A

Hurler disease

Hunter syndrome