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IBI Test 3 > B3-070 Congenital Disorders > Flashcards

B3-070 Congenital Disorders Flashcards

1
Q

diseases on a newborn screening have

A

significant morbidity and mortality
improved outcomes with early treatment
available testing that is simple and inexpensive

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2
Q

newborn screening are [sensitive/specific]

A

sensitive

confirmatory testing is always necessary

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3
Q

newborn screenings are obtained at

A

24 hrs of life

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4
Q

recurrent bacterial infections means

A

4 episodes of AOM/year
2 episodes of pneumonia/year
2 episodes of sinusitis requiring antibiotics/year
recurrent abcessess

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5
Q

if a recurrent infection is only occuring in one anatomic location consider

A

anatomic abnormality over immunodeficiency

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6
Q

recurrent ear infections may be caused by

A

ET dysfunction

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7
Q

recurrent UTI may be caused by

A

ureteral abnormalities

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8
Q

unilobar pneumonia may be caused by

A

aspiration or anatomical anomaly

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9
Q

deep seated infections

A

organ abscesses
sepsis/bacteremia
fungal infections

except mucocutaneous candidiasis

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10
Q

difficult to treat infections

A

antibiotic course greater than 2 months without improvement
need for parenteral antibiotics rather than oral

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11
Q

family history of primary immune deficiency triggers

A

early workup, usually prior to symptom onset

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12
Q

first test for possible congenital disorder

A

CBC w diff

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13
Q

lymphopenia is suggestive of

A

T cell disorder

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14
Q

neutropenia is suggestive of

A

phagocytic disorder

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15
Q

follow up tests should be guided by

A

clinical suspicion and family history

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16
Q

considerations of genetic testing

A

follow index of suspicion
sequential
consider cost
aggregate outside evaluation

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17
Q

identifies monosomy, trisomy, large deletions, translocations, non-disjunction

A

karyotype

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18
Q

commonly employed with multiple genetic anomalies

A

karyotype

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19
Q

pre natal amniotic fluid, chorionic villus tissue

A

karotype

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20
Q

higher resolution than chromosome analysis

A

FISH

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21
Q

used fluorescent-tagged sequence/probe

A

FISH

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22
Q

steps of FISH

A

denature DNA –> expose probe –> visualize under microscopy

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23
Q

detects 50-200kb deletions

A

FISH

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24
Q

limited to one disease

A

FISH

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25
Q

DiGeorge is diagnosed with

A

FISH

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26
Q

Williams syndrome is diagnosed with

A

FISH

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27
Q

trisomy 21 is dx with

A

karyotype

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28
Q

turner syndrome is diagnosed with

A

karyotype

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29
Q

detects deletions >5000

A

karyotype

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30
Q

various mutation of gene coding regions

A

single gene analysis

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31
Q

Factor V Leiden is diagnosed with

A

single gene analysis

specific mutation

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32
Q

cystic fibrosis is diagnosed via

A

single gene analysis

panel of common variants

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33
Q

done by PCR

A

single gene analysis

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34
Q

evaluates for gains or losses of chromosome segments at much higher resolution

A

comparative genomic hybridization/microarray

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35
Q

can do targets vs whole genome evaluation

A

comparative genomic hybridization/microarray

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36
Q

in comparative genomic hybridization/microarray, patient DNA amplification is

A

green

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37
Q

in comparative genomic hybridization/microarray, absence of patient DNA is

A

red

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38
Q

in comparative genomic hybridization/microarray, equal patient and reference DNA is

A

yellow

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39
Q

examine multiple gene and genetic regions simultaneously

A

comparative genomic hybridization/microarray

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40
Q

for patients who have a likely genetic component to symptoms, but testing has not identified cause

A

exome sequencing/next gen sequencing

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41
Q

ideally symptom driven

A

exome sequencing/next gen sequencing

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42
Q

trio analysis is best for interpretation

A

exome sequencing/next gen sequencing

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43
Q

risks of genetic screening

A

can reveal non-paternity, consaguinity, unrelated parental diagnosis

44
Q

only about 1/3 of patients will have an identified diagnosis

A

exome sequencing/next gen sequencing

45
Q

the first successful HSCTs were for

A

SCID and WAS

46
Q

what has contributed to a higher success rate of HSCTs?

A

improvements to donor selection, conditioning, and post transplant immunosuppression

47
Q

HSCTs can serve as a “rescue” following

A

malignancy

48
Q

the most important trait to qualify for HSCT

A

an immunodeficiency where the defect is isolated to hematopoietic cells

**not great for Hyper IgE

49
Q

HSCT is efficacious and recommended for

A

SCID
WAS

50
Q

Step 1 of HSCTs

A

Find HLA match

51
Q

4 types of donors

A

matched related donor
matched unrelated donor
cord blood donor
mismatched related donor

52
Q

most desirable donor

A

matched related

sibling

53
Q

efficacy approaches that of matched related donors

A

matched unrelated donor

54
Q

less likely to find a match for

A

patients of racially mixed backgrounds
ethnic minorities

55
Q

more forgiving of HLA mismatches

A

cord blood donor

56
Q

requires myeloablative conditioning

A

cord blood donor

dangerous for patient

57
Q

less antiviral immunity because cells are naive

A

cord blood match

58
Q

takes longer for engraftment to occur

A

cord blood match

increased risk of infection or complication during this time

58
Q

takes longer for engraftment to occur

A

cord blood match

increased risk of infection or complication during this time

59
Q

usually haploidentical

A

mismatched related donor

parents

60
Q

highest risk for graft rejection of GVHD

A

mismatched related donor

61
Q

Step 2 of HSCT

A

Conditioning

62
Q

may not require conditioning due to lack of immune system

A

SCID

63
Q

most aggressive and reduces risk of failure of GVHD, but comes at a cost of toxicity and infections

A

myeloablative

need for cord blood donor

64
Q

serves to minimize the immune response only

A

minimal intensity/immunosuppressive

65
Q

generally only if you have a matched related donor

A

minimal intensity/immunosuppressive

66
Q

middle ground, can be an option if patients have severe infections before transplants that would prevent myeloablative conditioning

A

reduced intensity

67
Q

Step 3 HSTCs

A

prevent GVHD

68
Q

the less intense conditioning regimen used,

A

the more immunosuppression needed after transplant to prevent GVHD

69
Q

if myeloablative conditioning was used, the patient may become

A

aplastic if fails

70
Q

donor chimerism

A

mixed donor and recipient cells

71
Q

primary graft failure

A

never engrafted at all

72
Q

secondary graft failure

A

engrafted and lost over time

73
Q

treatment of mild GVHD

A

get labs and imaging
go back to previous level of immunosuppression + topical corticosteroids

74
Q

treatment of moderate to severe GVHD

A

labs/imaging if stable
go back to previous level of immunosuppression + IV corticosteroids

75
Q

limited area of involvement and hemodynamically stable

A

mild GVHD

76
Q

IRT checks for

A

cystic fibrosis

77
Q

best when there is only one specific muations you are looking for (i.e. 22q11)

A

FISH

78
Q

when you need to look at very large deletions or chromosomal duplications/deletions (trisomies, monosomies)

A

karyotype/chromosomal analysis

79
Q

best when there is one gene of interest, even if there are many possible mutations within that gene

CTFR

A

single gene analysis/PCR

80
Q

when you are fishing for a genetic cause you believe to be syndromic

A

exome sequencing

81
Q

is bronchiolitis in children reason to suspect immunodeficiency?

A

no

82
Q

recurrent infections in multiple locations is concern for

A

immunodeficiency

83
Q

what test should you always start with?

A

CBC w/ diff

84
Q

after CBC, what test[s] are next best step in immunodeficiency workup?

A

flow cytometry
Ig levels
vaccine titers

results from flow cytometry can help determine need for Ig or vaccine ti

85
Q

what genetic test should start with if uknown disorder of genetic origin is suspected?

A

karyotype

86
Q

extrachromosomal DNA byproducts of T cell receptor rearrangement

A

TRECs

87
Q

TRECs are only expressed in

A

T cells of thymic origins

88
Q

differential for abnormal TRECs

A

SCID
DiGeorge
T cell lymphopenia
Ataxia telangiectasia
Wiskott Aldrich

89
Q

SCID patients should be placed in

A

positive pressure rooms

90
Q

if SCID infant requires blood products they should be

A

leukoreduced, irradiated, and CV negative

91
Q

should SCID patients receive live viral vaccines?

A

no

92
Q

SCID patients should receive a …….. ASAP

A

transplant

93
Q

usually best match for HSCT

A

MDR: sibling

94
Q

donor sources ranked best to least good

A

MRD>MURD>CBD>MMRD

95
Q

how is the stem cell graft conditioned?

A

antibody tagged removal
radiation

96
Q

how is the recipient bone marrow conditioned?

A

myeloablation
immunosuppression
total body irradiation

97
Q

myeloablation facilitates

A

engraftment

98
Q

immunosuppression in conditioning limits

A

rejection

99
Q

donor immune cells recognize recipient cells as foreign and attack

A

GVHD

100
Q

acute GVHD

A

.<100 days after transplant

101
Q

chronic GVHD

A

.>100 days after transplant

102
Q

GVHD commonly involves what tissues?

A

liver, GI tract, skin,

103
Q

short tandem repeat PCR is used to analyze

A

chimerism

104
Q

HSCT only treats

A

immune deficiencies that arise from defects in hematopoeitic cells

105
Q

even post HSCT, what is a common complication of WAS?

A

IBD

106
Q

if GVHD is suspected and patient is stable

A

labs and endoscopy

IBI Test 3 (20 decks)

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