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PBD1 > chapter 5 > Flashcards

chapter 5 Flashcards

1
Q

nervous system autosomal dominant disorders

A

huntingtons
neruofibromatosis
myotonic dystrophy
tuberous sclerosis

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2
Q

urinary autosomal dominant disorders

A

polycystic kidney disease

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3
Q

GI autosomal dominant disorders

A

familial polyposis coli

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4
Q

hematopoietic autosomal dominant disorders

A

hereditary spherocytosis

vonWillebrand disease

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5
Q

skeletal autosomal dominant disorders

A

marfan’s syndrome
ehlers-danlos syndrome
osteogenesis imperfecta
achondroplasia

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6
Q

metabolic autosomal dominant disorders

A

familial hypercholsterolemia

acute intermittent porphyria

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7
Q

metabolic autosomal recessive disorders

A 
CF
phenylketonuria
galactosemia
homocystinuria
lysosomal storage diseases
alpha anti-trypsin deficiency
wilsons disease
hemochromocytosis
glycogen storage diseases
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8
Q

hematopoietic autosomal recessive disorders

A

sickle cell anemia

thalassemias

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9
Q

endocrine autosomal recessive disorders

A

congenital adrenal hyperplasia

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10
Q

skeletal autosomal recessive disorders

A

ehlers-danlos syndrome

alkaptonuria

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11
Q

nervous system autosomal recessive disorders

A

neurogenic muscular atrophies
friedreich ataxia
spinal muscular dystrophy

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12
Q

MSK x-linked recessive disorders

A

duchenne muscular dystophy

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13
Q

blood x-linked recessive disorders

A

hemophilia A and B
chronic granulomatous disease
glucose 6 phosphate dehydrogenase deficiency

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14
Q

immune x-linked recessive disorders

A

agammaglobulinemia

wiskott-aldrich syndrome

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15
Q

metabolic x-linked recessive disorders

A

DI

Lesch-Nyhan syndrome

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16
Q

nervous x-linked recessive disorders

A

fragile X-syndrome

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17
Q

marfans syndrome

A

disorder of CT, manifested by changes to skeleton, eyes, CV system
1/5000
70-80% familial
autosomal dominant

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18
Q

pathogenesis of marfans syndrome

A

defect in extracellular glycoprotein fibrillin-1 which is scaffolding for tropoelastin to form elastic fibers
FBN-1 mutated in marfans
loss of microfibrils excessively activate TGFbeta
trials to treat with TGFbeta Abs

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19
Q

FBN2

A

congenital contracturalarachnodactaly

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20
Q

eye marfan

A

bilateral subluxation of lens -> ectopialentis

so rare almost diagnostic of marfans

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21
Q

diagnosing marfans

A

must have major involvement of 2/4 organs plus minor involvement of 1

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22
Q

EDS

A

ehlers-danos syndrome
grp of disorders that result from defect in synthesis or structure of fibrillar collagne
skin, ligaments, and joints frequently involved
skin hyperextensible and joints hypermobile (contortionists)
joint dislocation and fragile skin

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23
Q

serious internal complications of EDS

A

ruptured colon or large aa
ocular fragility w/rupture of cornea and detached retina
diaphragmatic hernia

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24
Q

kymphoscoliosis type of EDS

A

most common autosomal recessive form
mutations in lysyl hydroxylase cannot hydroxylate lysine during collagen sythesis
cannot cross link collagen -> weak

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25
Q

vascular type EDS

A

abnormalities in collagen II
autosomal dominant
severe defects in blood vessels and GI
arthrochaliasia and dermatosparaxis

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26
Q

classic EDS

A

defect in collagen V

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27
Q

familial hypercholesterolemia

A

mutation in LDLR -> stuck in blood -> loss of feedback control
900+ mutations
5 classes

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28
Q

heterozygote for familial hypercholesterolemia

A

1/500
2-3x increase plasma cholesterol from birth
tendinousxanthomas
premature atherosclerosis

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29
Q

homozygote for familial hypercholesterolemia

A

5-6x increase in plasma cholesterol
skin xanthomas
coronary, cerebral, and peripheral atherosclerosis in the very young

30
Q

class I

A

uncommon- null allele -> 0 LDLRs

31
Q

class II

A

fairly common, R’s accumulate in ER due to folding defects

32
Q

class III

A

affect LDL binding domain of R

33
Q

class IV

A

fail to localize to coated pits so LDL does not internalize

34
Q

class V

A

will not dissociate once internalized, so degraded and Rs not recycled

35
Q

statins

A

block HMGCoA reductase needed for cholesterol synthesis

36
Q

Tay-sachs disease

A

GM2 gangliosidase accumulate due to deficiency in hexoamindase alpha subunit
jews of eastern european descent

37
Q

morphology of Tay-sachs disease

A

accumulates primarily in CNS, ANS, and retina
neurons ballooned w/cytoplasmic vacuoles
stains for fat (red o and sudan)
cherry red spot in macula

38
Q

clinical features of Tay-sachs disease

A 
normal at birth, symptoms around 6 months
motor and mental retardation
cherry red spot
by 1-2 years complete vegetative state
100+ mutations
possible chaperon therapy in future
39
Q

neimann pick diseases type A and B

A

accumulation of sphingomyelin due to deficiency in sphingomyelinase
eastern european jews
chrom 11p
preferentially expressed from maternal chrom
100+ mutations

40
Q

neimann pick type A

A

severe infantile form
extensive neurological involvement
marker of visceral accumulation
protuberant abdomen due to hepatosplenomegaly
progressive failure to thrive, vomiting, fever, lymphadenopathy, progressive wasting and death by 3

41
Q

neimann pick type B

A

orangomegaly
no neuro involvement
survive into adulthood

42
Q

morphology of neimann pick type A

A 
missense mutation almost complete deficiency
zebra bodies
lipid laden phagocytic foam cells
brain gyri sunken and sulci widened
1/3 have retinal cherry red spot
43
Q

neimann pick type C

A

more common then A and B combined
mutation in either NPC1 (95%) or 2
lipid transport defect
cells accumulate cholesterol and gangliosides

44
Q

clinical presentation of neimann pick C

A

hydropsfetalis, still birth, neonatal hepatitis, or chronic form of progressive neurologic damage
ataxia, vertical supranuclear gaze palsy, dystonia, dyarthria, psychomotor regression

45
Q

gaucher disease

A

cluster of autosomal recessive disorders
mutation in gene for glucocerebrosidase
most common lysosomal storage disease
cannot cleave glucose from ceramide
glucocerebrosidases accumulate in phagocytes and sometimes CNS
in addition to accumulation have activation of macrophages -> IL1, 6 and TNF

46
Q

gaucher disease type I

A 
non-neuopathic
99%
storage limited to mononuclear phagocytes throughout body w/o involving brain
spleen and skeleton most affected
onset early adulthood
Jews
decreased but detectable enzyme
47
Q

gaucher disease type II

A 
acute/neuropathic
infantile acute cerebral pattern
no predilection for jews
zero enzyme
hepatosplenomegaly
progressive failure of CNS -> early death
48
Q

gaucher disease type III

A

systemic characteristics of type I

progressive neurogenic disease beginning in adolescence/early adulthood

49
Q

morphology of gauchers disease

A

distended phagocytes, called gaucher cells found in spleen, liver, BM, lymph, tonsils, thymus, peyers patches
rarely appears in vacuoles, but have fibrillary type cytoplasm
periodic acid schiff stain

50
Q

mucopolysaccharidoases (MPS)

A

deficiencies in enzymes for degredation of mucoplysaccharides
types I-VII
autosomal recessive, except type II (hunters syndrome) which is x-linked

51
Q

clinical presentation of MPS

A

coarse facial features, clouding of cornea, joint stiffness, mental retardation
increased urinary excretion of MPS

52
Q

morphology of MPS

A 
accumulations in mononuclear phagocytes, endothelium, smooth m, fibroblasts
distended cells w/clearing of cytoplasm
acid-schiff stain
skeletal abnormalities
valvular lesions
subendothelial arterial deposits
53
Q

hepatic glycogen storage diseases

A

-VonGierke disease (type I) defect in glucose-6-phosphatase
hepatic enlargement and hypoglycemia
- defects in debranching enzymes

54
Q

myopathic glycogen storage diseases

A

glycogen stored in mm
mm weakness
McArdles (V), mm phosphofructokinase (VII)
mm cramps post exercise and lactate does not increase

55
Q

things associated w/glycogen storage diseases

A

deficiencies of alpha-glucosidase/acid maltase
lack of brr enzymes
cardiomegaly

56
Q

alkaptonura/ochronosis

A

lack of homogentisic oxidase
cannot turn homogentisic acid into methyacetoacetic acid in tyrosine degredation
homegentisic acid accumulates -> black urine

57
Q

morphology of alkaptonura/ochronosis

A

homogentisic acid binds collagen in CT, tendons, cartilage, making them blue-black
visible in eyes, nose, cheeks
causes cartilage to become very brittle

58
Q

paracentric

A

only involves 1 chromosome arm

59
Q

pericentric

A

involves both chromosome arms

60
Q

trisomy 21

A 
down syndrome
1/700
can have normal chromosome number due to translocation
usually due to meiotic non-disjunction
can be due to robertsonian translocation
1% mosaics
40% develop alzheimers like degerenation
61
Q

edwards

A

18

62
Q

patau

A

13

63
Q

degeorge syndome

A

22q11.2
thymic hypoplasia -> t cell immune deficiency
hypoplasia of PT -> hypocalcemia

64
Q

velocadiofacial syndrome

A 
22q11.2
facial abnormalities
cleft palate
CV abnormalities
learning disabilities
65
Q

chrom 22 deletions

A

at risk for psychotic illness

66
Q

klinefelters

A

male hypogonadism due to 2X and 1Y
mean IQ lower
at risk for DMII and mitral valve prolapse
increase in FSH, decrease in T, and increase in E
20x higher risk for breast cancer
at risk for germ cell tumors and autoimmune dieases

67
Q

turners syndrome

A

complete or partial monosomy of X -> hypogonadic female
congenital heart disease
neck webbing
1/3 amenoria cause
hypothyroid
glucose intolerance, obesity, insulin resistance, short stature (SHOX)

68
Q

huntingtons

A

trinucleotide repeat in coding region, usually occurs during spermiogenesis

69
Q

fragile x syndrome

A

trinucleotide repeat in non-coding region, usually occurs during oogenesis
can be due to folate deficiency
mentally retarded
long face w/large mandible, large everted ears, large testicals, hyperextensible joints, increased arch palate, mitral valve prolapse

70
Q

leber hereditary optic neuropathy

A

mitochondrial gene mutation
bilateral central vision loss ages 15-30
cardiac conduction defects
minor neurological manifestations

71
Q

praderwilli syndrome

A

mental retardation, short, hypotonia, hyperphagia, obesity, small hands, feet, gonads
deletion of 15q12 PATERNAL

72
Q

angelmen syndrome

A

mental retardation, ataxia, inappropriate laughter, ‘happy puppets’
loss of ubiquitin ligase
deletion of 15q12 MATERNAL

PBD1 (6 decks)

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