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NICU > Heme/Immuno > Flashcards

Heme/Immuno Flashcards

1
Q

When does fetal hemoglobin essentially disappear

A

6 months (<1% fetal is left)

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2
Q

2 conditions that are protective from malaria

A

G6PD and sickle cell

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3
Q

Heinz bodies seen in which 2 conditions

A

G6PD and alpha-thal

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4
Q

Methemoglobinemia:

  • how is it inherited?
  • when is cyanosis first seen, and when does it become symptomatic?
  • treatment?
A
  • Hgb M is auto doMinant, cytochrome B5 Reductase is auto Recessive
  • cyanosis first seen at 10%, diminished oxygen transport at 30%
  • Tx with methylene blue (response is diagnostic and therapeutic)
    • contraindicated in G6PD (worsen hemolysis); Hb M will not respond
  • think if cyanosis with low SaO2, normal PaO2 that doesn’t respond to oxygen
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5
Q

What is Kostmann syndrome?

A

Mutations in elastase gene
Arrest of neutrophils as promyelocytes –> severe congenital cyclic neutropenia
Also see epilepsy and cognitive delay
Tx: GCSF

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6
Q

What is Shwachman-Diamond syndrome?

A
  • Bone marrow dysfunction (cytopenias, esp neutropenia), exocrine pancreatic insufficiency (steatorrhea), and skeletal dysplasia
  • remember as shwachman anemia
  • Presentation: steatorrhea, cytopenias (or at least neutropenia), FTT, maybe skeletal dysplasia
  • Tx: panc enzymes
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7
Q

What is Fanconi anemia

  • how is it inherited
  • what body parts have defects
  • what are the heme defects
  • Dx
  • Tx
A
  • Defective double strand DNA repair
  • abnormal or absent thumbs, no radii, café au lait spots, short stature, microcephaly, renal anomalies
  • aplastic anemia and macrocytic anemia –> predisposition to cancers
  • Dx: detection of increased chromosomal fragility in lymphocytes
    Tx: may need androgens, BMT
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8
Q

What is Diamond Blackfan anemia?

  • what are the physical defects?
  • what are the heme defects?
  • what are they at increased risk for?
  • what is the treatment?
A
  • Pure RBC aplasia
  • Cellular defect in ribosome biosynthesis
  • microcephaly, cleft palate, abnormal thumbs (triphalanygeal), cardiac defects, short stature and skeletal abnormalities
  • Macrocytic anemia - see bone marrow with normal cellularity with absence of red cell precursors
  • Increased risk of cancer
  • Tx: steroids, BMT
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9
Q

NAIT has a high recurrence rate. What and when is the antenatal treatment of NAIT?

Treatment of NAIT in fetus?

A

Moms:
Tx - weekly IVIg and steroids
If prior infant with intracranial hemorrhage, start at ~13 weeks; if no ICH, start at ~23 weeks

Babies:

  • Platelet transfusions (esp negative for HPA-1a or whatever antibody is present)
  • IVIg
  • prednisone
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10
Q

How and when do you treat thrombocytosis?

A

If greater than 1.5 million, give aspirin 5 mg/kg/day

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11
Q

What are symptoms of TAR?

A

Thrombocytopeni and Absent Radii
but normal thumbs! (Distinguishes from Fanconi and DBA)

also have CHD

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12
Q

Hemophilia A

  • how is it inherited
  • what’s deficient
  • what’s prolonged
  • how do you treat
A
  • X-linked recessive
  • Factor 8 is deficient
  • prolonged PTT
  • Tx with F8 (cryo if none available)
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13
Q

Hemophilia B

  • how is it inherited
  • what’s deficient
  • what’s prolonged
  • how do you treat
A
  • X-linked recessive
  • Factor 9 is deficient
  • prolonged PTT
  • Tx with F9
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14
Q

Hemophilia C

  • how is it inherited
  • what’s deficient
  • what’s prolonged
  • how do you treat
  • what is it associated with
A
  • AR (unlike other hemophilias which are XR)
  • Factor 11 is deficient
  • prolonged PTT
  • Tx with FFP
  • associated with Noonan’s (which is inherited AD. wtf.)
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15
Q

Factor 13 deficiency

  • how is it inherited
  • how does it present
  • what’s prolonged
  • how do you treat
A
  • autosomal recessive
  • prolonged bleeding from umbilical stump or after circumcision
  • normal coags!!
  • tx with F13 or cryo

*Factor 13 is fibrin stabilizing, so have weak clots

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16
Q

Vitamin K deficiency

  • what’s prolonged
  • which factors are dependent on vitamin K
A
  • prolonged PT (only one!)

- 2, 7, 9, 10, protein C and S are dependent on Vitamin K

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17
Q

Purpura fulminans:

  • associated with what infection?
  • associated with what heme disorder?
  • How is it treated?
A
  • GBS
  • protein C/S deficiency
  • Tx: Protein C/S, FFP
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18
Q

Tetrad of RVT?

A

HTN, hematuria, palpable flank mass, and thrombocytopenia

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19
Q

MRI signs of:

  • bilirubin encephalopathy
  • kernicterus
A
  • globus pallidus, hippocampus

- above plus basal ganglia and cerebellum (cerebral cortex is spared)

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20
Q

Absolute contraindication to phototherapy

A

If infant has Congenital Erythropoietic Porphyria, will get severe bullous lesions on skin, accelerated hemolysis, splenomegaly, pink to red urine that fluoresces orange under UV light

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21
Q

Goal of DVET?

A

Replace 85% of RBC and 50% of bilirubin

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22
Q

Most common heme malignancy?

A

Acute myeloid leukemia

23
Q

Neonates with asplenia:

  • are at risk for what two pathogens?
  • have what two pathologies on smear?
A
  • E. Coli and Klebsiella (CoKe)

- thrombocytosis and Howell Jolly bodies

24
Q

Most common neutrophil dysfunction disorder?

A

Myeloperoxidase deficiency

  • recurrent candida infections (or asymptomatic - other parts of immune system compensate)
  • Nitroblue Tetrazolium test turns blue
25
Q

Complements!

  • what are the classical and alternative pathways?
  • what is the most common complement deficiency?
  • they converge where?
  • where are they produced?
A
  • Classical requires Ag-Ab reaction, but alternative can be Ab independent
  • Most common deficiency is C2 (leads to pneumococcal infections and collagen vascular diseases)
  • They converge at C3 (the alternate pathway just starts at C3)
  • They are produced in the liver, except C7 which is secreted by neutrophils
26
Q

Hyper IgM

  • what is it
  • what is low
  • what are symptoms
A
  • primary antibody defect: absence of CD40L on T cells prevents class switching of antibodies, so you end up with a lot of IgM that can’t do anything
  • Low IgG and IgA, as well as neutropenia (may need GCSF)
  • perirectal abcesses, rubella
27
Q

X-linked agammaglobulinemia

  • what is low and what is normal
  • what are symptoms
A
  • BTK mutation causes failure of B cell maturation
  • undetectable IgG, M, and A but normal T cells
  • see infections after 6 months of age when mother’s supply runs out
  • unlike transient hypogammaglobulinemia - only IgG is low
28
Q

Hemophagocytic LymphoHistiocytosis

  • what is it
  • labs?
A
  • hyper-activated T cells and macrophages
  • similar to hemochromatosis (high LFT’s, ferritin, anemia, thrombocytopenia, low fibrinogen) but with fever, high triglycerides, neutropenia and low NK cells, lytic lesions
29
Q

2 tumors a/w BWS?

A

Wilms and hepatoblastoma

30
Q

Three primary antibody deficiency examples?

A

Hyper-IgM
X-linked agammaglobulinemia
CVID

31
Q

Combined immune deficiency examples?

A

Omenn, Zap-70, Wiskott Aldrich

32
Q
    • MCC of neonatal (28 WGA to 28 days of life) stroke?
    • Which side?
    • MC problem in childhood?
A
    • Thromboembolism d/t inherited coagulation disorder
    • More commonly on left
    • motor deficits (although seizure is a common presenting symptoms, only 10% go on to have epilepsy)
33
Q

What are the three embryonic hemoglobins? When does embryonic hemoglobin last until?

A

Gower 1: Z2E2
Gower 2: A2E2
Portland: Z2Y2

Lasts until 8 weeks

34
Q

What are the two fetal hemoglobins? When do the chains begin to switch?

A

F: A2Y2 (75%)
A: A2B2 (25%)

at 30 weeks, Y starts decreasing and B starts increasing, but A2Y2 is still predominant at birth (70-90%)

35
Q

What are the two main adult hemoglobins?

A

A: A2B2
A2: A2D2

36
Q

How much unsaturated hemoglobin do you need to be cyanotic

A

3 g/dL
eg:
hgb 15 –> cyanotic at 80%
hgb 10 –> cyanotic at 70%

37
Q

Most common cause of primary neutropenia

A

Elastase mutation = severe congenital cyclic neutropenia aka Kostmann

38
Q

What does a granulocyte agglutination test look for?

A

immune-mediated neutropenias

39
Q

Neuroblastoma, which is the MC malignancy and second MC tumor (secondary to teratoma)

  • derived from?
  • MC primary site?
  • symptoms?
  • dx?
  • prognosis?
  • diseases associated with?
A
  • derived from primitive sympathetic ganglia/neural crest cells
  • most commonly in adrenal glands
  • symptoms: bluish nodules on skin, Horner’s, orbital ecchymoses, HTN
  • Dx: tumor biopsy is gold standard; will also see elevated urine catecholamines (HVA/VMA)
  • better prognosis if diagnosed <1 year (called stage 4-S or M-S); less favorable if N-myc amplification
  • associated with central hypoventilation, Hirschprung’s, and NF1
40
Q

Microcytic anemia at birth?

A

alpha thal (probably HbH)

41
Q

Transient hypogammaglobulinemia of infancy

  • what is it
  • what is low (B cells, T cells, IgG)
  • can you give vaccines
A
  • exaggerated physiologic nadir > 6 months
  • B and T cells are normal, but IgG is >2 SD’s below
  • vaccines are okay
42
Q

Which Ig begins production in utero?

A

IgM

43
Q

What adult production of IgG, IgM and IgA by 1 year? When do they reach adult levels?

A

IgM - 75%
IgG - 60% (adult levels at 4 years)
IgA - 20% (closer to adult levels at 4 years)

44
Q

Which Ig levels are higher at birth than adult? When does it nadir, and then reach adult levels again?

A

IgG due to maternal transfer by endocytosis

Nadir at 6-8 months, then adult levels by 4 years

45
Q

B cells!

  • high or low at birth?
  • when does it peak and then reach adult levels?
A
  • absolute number are significantly higher at birth

- peaks at 3-4 months, then decreases to adult levels at 5-6 years

46
Q

G6PD variant (African-Americans with reduced G6PD activity) is associated with jaundice and ____?

A

methemoglobinemia

47
Q

what are howell jolly bodies and what are they specific for?

A

small, round nuclear remnants seen in patients with asplenia

48
Q

what are heinz bodies?

A

denatured hemoglobin

49
Q

MCC malignancy in neonates

A

neuroblastoma

50
Q

Most common antigen of hemolytic disease (HDN)

A

little c

51
Q

enzyme that unconjugates bilirubin; present in EBM and thought to breastmilk jaundice
(present in GI and increases enterohepatic circulation because increases unconjugated bilirubin)

A

beta-glucuronidase

52
Q

What has target cells at birth?

A

alpha thal

53
Q

mechanism of FVL - how does it present?

A

protein C cleaves and inactivates FV
In FVL it can’t, so FV causes thrombosis

stroke, RVT

54
Q

pyruvate kinase deficiency is a problem of what?

A

ATP production

NICU (16 decks)

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