Lecture 2: Non-Neoplastic WBC Disorders in Pediatrics Flashcards

1
Q

How to calculated absolute neutrophil count (ANC)?

A

ANC = [(% neutrophils + %bands) x (WBC)] / 100

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2
Q

If the absolute neutrophil count (ANC) is

A

ANC <500/uL

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3
Q

What is the inheritance pattern, clinical manifestations and the defect in Kostmann Syndrome?

A
  • Autosomal recessive
  • ANC <200 since birth; manifests as life-threatening pyogenic infections, often in infancy
  • Due to impaire myeloid differentiation caused by maturational arrest of neutrophil precursors
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4
Q

Severe congenital neutropenia (Kostmann syndrome) increases the risk for what?

A

Leukemia (AML)

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5
Q

What are the clinical manifestations and defect associated with Cyclic neutropenia?

A
  • Cyclic fever, oral ulcers, gingivitis, periodontal disease, and recurrent bacterial infections
  • ANC <200 for 3-7 days every 3 weeks
  • Due to stem cell regulatory defect resulting in defective maturation
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6
Q

What is the inheritance pattern and risk for malignancy associated with Cyclic neutropenia?

A
  • Can be sporadic or autosomal dominant
  • NO increased risk malignancy
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7
Q

What is the triad associated with Shwachman-Diamond syndrome?

A
  • Neutropenia
  • Exocrine pancreas insufficiency = loose oily stools
  • Skeletal abnormalities
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8
Q

What is the inheritance pattern and defect seen with Shwachman-Diamond syndrome?

A
  • Autosomal recessive
  • Defect in neutrophil mobility, migration,andchemotaxisin addition toneutropenia
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9
Q

Shwachman-Diamond syndrome is associated with an increased risk for what?

A

Myelodysplastic syndrome or leukemia

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10
Q

Fanconi anemia is the classic example of which triad?

A
  • Pancytopenia
  • Bone marrow failure
  • Aplastic anemia
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11
Q

What are the clinical manifestations of leukocyte adhesion deficiency?

A
  • Delayed separation of umbilical cord (>3 weeks)
  • Recurrent severe bacterial and fungal infections WITHOUT pus
  • Poor wound healing
  • Periodontal disease
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12
Q

What is the triad of hyper-IgE aka Job syndrome?

A
  • Severe eczema
  • Recurrent bacterial infections (usually staph) of skin
  • Recurrent pulmonary infections (bacterial, fungal)
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13
Q

What is the defect in Hyper-IgE aka Job syndrome; increased risk of what malignancy?

A
  • Defect in chemotaxis of neutrophils
  • ↑ risk of Hodgkin lymphoma
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14
Q

What are the 4 main clinical manifestations of Chediak-Higashi syndrome; what is the inheritance pattern?

A
  • Autosomal recessive; defect in granule morphogenesis, chemotaxis, and degranulation
  • Partial oculocutaneous ALBINISM
  • Peripheral and cranial neuropathies
  • Neutropenia
  • Recurrent pyogenic infections
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15
Q

What are the clinical manifestations of Chronic Granulomatous disease; what is the inheritance pattern?

A
  • Primarily X-linked recessive
  • Recurrent purulent infections w/ fungal or bacterial catalase-positive organisms
  • Usually begins in infancy, chronic inflammatory granulomas
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16
Q

What is infection associated neutropenia; common viruses?

A
  • Many viruses cause neutropenia within first 2-3 days of illness, lasting up to 1 weeks
  • Common: HIV, Parvovirus B19, EBV, CMV, Influenza A and B, RSV
17
Q

Which nutritional deficiencies are associated with neutropenia?

A
  • Vitamin B12
  • Folate
  • Copper
  • Starvation
18
Q

Seizures are a cause of what WBC abnormality?

A

Leukocytosis

19
Q

How is severe congenital neutropenia (Kostmann syndrome) diagnosed; which mutation may be present?

A

BM demonstrates myeloid maturation arrest; 60-80% have neutrophil ELA-2 mutations

20
Q

How is Cyclic Neutropenia diagnosed; which mutation may be present?

A

CBC 2-3x weekly for 6-8 weeks to document cycles and nadir; ELA-2 mutation in 80-90%

21
Q

What is seen on evaluation and what findings aid in diagnosis of Shwachman-Diamond syndrome; which mutation may be present?

A
  • Neutropenia
  • Low serum trypsinogen +fecal fat excretion (exocrine pancreas insufficiency)
  • Metaphyseal dysostosis, rib cage abnormalities, short stature
  • SBDS mutation in 90%
22
Q

Pt’s with fanconi anemia are at increased risk for what malignancies?

A

AML; brain tumors; and Wilms tumor

23
Q

What is th inheritance pattern of Leukocyte Adhesion Deficiency?

A

Autosomal Recessive

24
Q

Which class of drugs is notorious for causing neutropenia?

A

Cytotoxic agents for tx of malignancies