Heme/Onc Flashcards
1
Q
physiologic drop in H/H occurs when in infants
A
2nd to 3rd month of life (8-10 wks) in full term, 1 to 2 months (7-8 wks) in preemies
2
Q
etiology of physiologic anemia in newborns
A
low EPO production
3
Q
normal MCV calculation
A
70 + 2(age in yrs)
4
Q
normal MCV in children
A
70-90
5
Q
microcytic anemia MCV
A
<70
6
Q
hemoglobin F composition
A
2 alpha and 2 gamma chains
7
Q
hemoglobin A composition
A
2 alpha and 2 beta chains
8
Q
hemoglobin A2 composition
A
2 alpha and 2 delta chains
9
Q
hemoglobin bart
A
on neonatal electrophoresis with alpha thalassemia (gamma chains)
10
Q
one defective alpha allele
A
asymptomatic alpha thalassemia
11
Q
2 defective alpha alleles
A
asymptomatic but with mild microcytic hypochromic anemia form of alpha thalassemia
12
Q
3 defective alpha alleles
A
alpha thalassemia causing hemoglobin H disease leading to hemolysis and hepatomegaly - treated with splenectomy
13
Q
hemoglobin H disease
A
alpha thalassemia with 3 defective alpha alleles, treatment is splenectomy
14
Q
4 defective alpha alleles
A
alpha thalassemia that causes hydros fettles and results in stillbirth or death soon after birth
15
Q
beta thalassemia minor aka
A
beta thalassemia trait
16
Q
defect in one beta globulin gene allele
A
beta thalassemia minor - asymptomatic with incidental mild microcytic anemia
17
Q
beta thalassemia minor on electrophoresis
A
elevated A2, normal iron
18
Q
beta thalassemia intermedia
A
mutation in both beta globulin gene alleles but one mutation with a mild phenotype
19
Q
beta thalassemia major
A
mutation in both beta globulin gene alleles with severe phenotype
20
Q
xray with hair on end appearance of bone
A
in beta thalassemia major 2/2 extra medullary hematopoiesis
21
Q
beta thalassemia major treatment
A
chronic transfusions
22
Q
2 long term complications of chronic transfusions
A
cholelithiasis and hemosiderosis (iron deposits in liver, heart and pancreas)
23
Q
sickle cell anemia on electrophoresis
A
hemoglobin F and hemoglobin S
24
Q
beta thalassemia on electrophoresis
A
low/no A1, elevated Hgb A2 and Hgb F
25
treat iron deficiency anemia for how long
ferrous sulfate for 2 months after Hgb normalizes
26
RDW in iron deficiency and thalassemia
RDW high in iron deficiency anemia and lead toxicity, low/normal in thalassemia
27
gold standard test for lead toxicity
whole blood lead level
28
smear finding with lead toxicity
ringed sideroblast
29
MCV in microcytic anemias
>100
30
frequent causes of vitamin B12 deficiency
intrinsic factor deficiency (pernicious anemia), bacterial overgrowth, bowel resection, vegetarian diet, HLA-B27/Crohn's
31
goats milk is associated with
folate deficiency
32
serum haptoglobin in hemolytic anemia
low (used up for transporting released Hgb as cells break open)
33
reticulocyte count in hemolytic anemia
elevated (unless cause is parvo, then would not be elevated)
34
heinz bodies
small purple granules in the red cell due to damage to hemoglobin - seen in G6Pd deficiency
35
G6PD deficiency inheritance
x-linked
36
G6PD deficiency testing timing
must be weeks after an episode otherwise could be falsely negative
37
most common inherited cause of hemolytic anemia
hereditary spherocytosis
38
MCHC in hereditary spherocytosis
increased mean corpuscular hemoglobin concentration (more hemoglobin per volume - cell is smaller)
39
diagnostic test of choice for hereditary spherocytosis
osmotic fragility test (cell breaks open easier in hypotonic solution) or EMA flow cytometry
40
etiology of hereditary spherocytosis
spectrin deficiency or spectrin mutation (less common = ankyrin deficiency)
41
cure for hereditary spherocytosis
splenectomy
42
most common reason for need of blood transfusion in kids with hereditary spherocytosis
parvovirus B19 causing an aplastic crisis
43
cause of sickle cell anemia
valine is substituted for glutamic acid at amino acid 6 of the beta globin chain
44
when does sickle cell anemia clinically present
after 6 months
45
sequestration crisis
pooling of blood in the liver and spleen usually in response to an infection, medical emergency and usually requires transfusion. splenectomy if has several
46
prophylaxis in sickle cell
penicillin through at least 5 years old and pneumococcal vaccine series
47
smear of sickle cell will show
Howell-jolly bodies (spleen is what usually removes them and they are functionally asplenic)
48
functional asplenia in sickle cell occurs by
age 5
49
children with sickle cell are resistant to
malaria
50
diagnosis of acute chest syndrome
chest pain, infiltrate on CXR and hypoxia on ABG
51
vaccines required before splenectomy
H flu, S. pneumonia and N. meningitidis
52
acute chest treatment
transfusion (simple if Hct low, exchange if Hct is high)
53
medication that can cause an aplastic crisis
chloramphenicol
54
type of anemia in Fanconi's anemia
macrocytic anemia with elevated Hgb F
55
physical characteristics of Fanconi's anemia
abnormal skin pigmentation, growth retardation, renal abnormalities, absent or hypoplastic thumb
56
type of anemia in Diamond Blackfan anemia
macrocytic anemia
57
Fanconi anemia inheritance
recessive
58
fanconi anemia is at risk for transformation to what
AML or myelodysplastic syndrome
59
Fanconi anemia cure
bone marrow transplant
60
profound isolated red cell anemia
Diamond Blackfan anemia (present at birth/chronic) and transient erythroblastopenia of childhood
61
etiology of diamon-blackfan anemia
arrest in maturation of red cells
62
etiology of transient erythroblastopenia of childhood
suppression of erythroid production
63
Diamond Blackfan anemia physical features
dysmorphic facies, thumb abnormalities, urogenital defects
64
to decrease risk of febrile non hemolytic transfusion reaction
use leukocyte filtered blood
65
neutropenia definition
ANC < 1000 during first year of life, then ANC < 1500
66
severe neutropenia definition
ANC < 500
67
recurrent mucosal ulcerations think
neutropenia
68
kostmann syndrome aka
severe congenital neutropenia
69
medications that can cause neutropenia
macrolides, nafcillin and penicillin
70
cyclic neutropenia inheritance
autosomal dominant
71
cyclic neutropenia presentation
low WBC count for one week every month or so with oral lesions and enlarged lymph nodes
72
cyclic neutropenia treatment
manage infection and start daily rig-CSF (recombinant human granulocyte colony stimulating factor)
73
chronic benign neutropenia is usually outgrown by
age 2
74
kostmann syndrome inheritance
aka severe congenital neutropenia - autosomal recessive
75
kotsmann syndrome treatment
daily rhG-CSF, if they do not respond then stem cell transplant
76
etiology of kostmann syndrome
arrest in the development of neutrophils
77
Scwachman-Diamond syndrome features
pancytopenia w/ recurrent infections, pancreatic exocrine insufficiency w/ steatorrhea and short stature, skeletal abnormalities
78
thrombocytopenia definition
platelets < 150,000
79
medications that can lower platelet count
sulfas, seizure meds and vancomycin
80
medications that cause abnormal platelet function
aspirin and ibuprofen
81
neonatal alloimmune thrombocytopenia
transient severe thrombocytopenia 2/2 platelet destruction by maternal antibodies (fetal platelets display antigen inherited by father)
82
neonatal alloimmune thrombocytopenia vs autoimmune thrombocytopenia
mom is normal in alloimmune, antibodies also attacking mom's platelets in autoimmune
83
kasabach-merritt syndrome
hemangioma causes localized consumptive coagulopathy leading to thrombocytopenia, increased risk for DIC, normal bone marrow
84
TAR syndrome
Thrombocytopenia Absent Radius - symptomatic by 4 months
85
WBC in TAR syndrome
high
86
vitamin K dependent factors
2, 7, 9 and 10
87
vitamin K deficiency effects the
extrinsic pathway leading to elevated PT
88
factor 8 deficiency
hemophilia A
89
factor 9 deficiency
hemophilia B
90
coags in hemophilia
prolonged PTT
91
hemophilia inheritance
x-linked, boys only
92
prolonged PT think
vitamin K deficiency - factors 2, 7, 9 and 10
93
prolonged PTT think
hemophilia (factors 8 and 9)
94
normal PT, slightly prolonged or normal PTT think
von wile brand disease
95
treatment for major surgery or life threatening bleeds with vWD
factor 8 concentrate
96
treatment for smaller bleeds in vWD
either nothing or DDAVP (increases plasma vWF and factor 8)
97
aminocaproic acid use
helps with mucosal bleeding by inhibiting fibrinolysis
98
DIC labs
low platelets, low fibrinogen, elevated d-dimer, prolonged thrombin time
99
FFP to replace
clotting factors
100
cryoprecipitate to replace
fibrinogen
101
most common primary malignant bone tumor in kids
osteosarcoma
102
mets of osteosarcoma
lungs
103
xray with sunburst pattern
osteosarcoma (calcified blood vessels)
104
xray with onion skinning
Ewing sarcoma (periosteal reaction)
105
tibia or femur pain that is worse at night and relieved by ibuprofen
osteoid osteoma
106
xray with central radiolucent area surrounded by thick sclerotic bone
osteoid osteoma
107
most common childhood malignancy
leukemia
108
most common childhood leukemia
ALL
109
common sites of relapse with ALL
CNS and testes
110
unexplained pruritis think
lymphoma
111
nest step with unexplained LAD
CXR
112
non-tender enlarged cervical or supraclavicular LAD in teens with weight loss, fever, night sweats
hodgkin's lymphoma
113
lymph node biopsy with Hodgkin's lymphoma
reed Sternberg cells
114
non-hodgkin lymphoma
smaller child with more rapid presentation with airway compression or non tender mass in abdomen
115
presentations of langerhans cell histiocytosis
persistent scalp or diaper seborrheic rash, chronic ear drainage or chronic mastoiditis, lytic lesions in the skull or vertebra, excessive urination
116
langerhan cell histiocytosis diagnosis
skin biopsy and electron microscopy
117
most common solid tumor of infancy
neuroblastoma
118
physical findings with neuroblastoma
raccoon eyes, opsoclonus myoclonus
119
likely cause of HTN in neuroblastoma
renal artery compression
120
neuroblastoma diagnosis
tumor biopsy OR elevated urine VMA and HMA with neuroblasts on bone marrow OR MIBG scan
121
neuroblastoma prognosis
excellent if <1, poor if >1
122
diagnosis of retinoblastoma
US or MRI (avoid CT because increased risk of secondary primary cancers)
123
sporadic vs genetic retinoblastoma
sporadic is usually unilateral and genetic is usually bilateral
124
genetic retinoblastoma inheritance
autosomal dominant with incomplete penetrance
125
retinoblastoma gene
RB1 on the long arm of chromosome 13
126
risk for what other tumor if retinoblastoma is genetic
pineal gland tumor
127
most common soft tissue sarcoma in children
rhabdomyosarcoma
128
constipation with palpable mass on rectal exam
rhabdomyosarcoma
129
grape like mass protruding from vagina
rhabdomyosarcoma
130
cancers that get worse after trauma/injury
osteosarcoma and rhabdomyosarcoma
131
location of rhabdomyosarcoma
usually head/neck in age 2-6 and truncal or extremity in older kids
132
wilms tumor aka
nephroblastoma
133
most common pediatric abdominal malignancy
wilms tumor
134
physical findings that can be seen with films tumor
aniridia and hemihypertrophy
135
most common presentation of wilms tumor
asymptomatic abdominal mass (may also have HTN and/or gross hematuria)
136
calcifications on abdominal mass
neuroblastoma (wilms does not calcify)
137
labs in tumor lysis syndrome
elevated phosphate, potassium and uric acid, low calcium
138
how to prevent tumor lysis syndrome
hydration, alkalization and allopurinol
139
patient on chemo exposed to varicella requires
varicella zoster immunoglobulin
140
giving systemic steroids to someone with undiagnosed cancer could cause
tumor lysis syndrome
141
masses that can cause airway compression
Thymoma
Teratoma
Thyroid carcinoma
Terrible lymphoma
142
cause of SVC syndrome
compression on SVC by anterior mediastinal mass usually with lymphoma
143
SVC syndrome presentation
plethora (red face), facial swelling, upper extremity edema and distended neck veins
144
alkylating agents side effects
gonadal dysfunction
145
cyclophosphamide side effect
hemorrhagic cystitis
146
cisplatin side effect
hearing loss and peripheral neuropathy
147
bleomycin side effect
pulmonary fibrosis
148
anthracyclines (doxorubicin, daunomycin) side effect
cardiac toxicity
149
vincristine/vinblastine side effect
neurotoxicity and SIADH
150
methotrexate side effects
oral and GI ulcers, bone loss
151
first site of RBC formation in fetus
yolk sac
152
what organ produces most of the fetal RBCs at 3 months
liver
153
what organ produced EPO in fetus
liver (kidneys take over soon after birth)
154
predominant hemoglobin at birth
HbF (90%)
155
lifespan of mature RBC
120 days
156
diagnosis in 4 yr old w/ low iron, high TIBC, low transferrin saturation and low ferritin
iron deficiency anemia
157
RDW in iron deficiency anemia
high
158
cooley anemia aka
beta thalassemia major
159
diagnosis of 9 month old with pallor, irritability, growth retardation, HSM, jaundice and Hgb electrophoresis with Hgb F only
beta thalassemia major aka Cooley anemia
160
adenine is replaced by thymidine resulting in valine encoded instead of glutamic acid on chromosome 11
sickle cell
161
common first symptom in sickle cell
dactylitis
162
leading cause of death with sickle cell
acute chest syndrome
163
substitution of lysine for glutamic acid in the 6th position of the B-globin chain results in
hemoglobin C
164
diagnosis with severe thrombocytopenia, small platelets, eczema and immunodeficiency
wiskott-aldrich syndrome
165
macrothrombocytopenia with giant platelets that do not aggregate to ristocetin (they do aggregate to adenosine diphosphate, epinephrine and collagen)
Bernard-soulier syndrome
166
how much does a RBC transfusion of 10mL/kg raise Hgb
2.5-3 g/dL (1 unit it 250-350 mL)
167
most likely diagnosis with orbital chroma and HSM
AML
168
classic histologic feature of Hodgkin lymphoma on lymph node biopsy
reed Sternberg cell
169
most common type oh lymphoma in kid
non-hodgkin's
170
most likely diagnosis with mass in ileocecal junction
burkitt lymphoma
171
common translocation in ewing sarcoma
t (11;22)
172
xray with stalks or broad based projections from the surface of the bone with an associated cartilage cap
osteochondroma
173
syndrome with gremlin mutations in p53 gene, CNS tumors including gliomas, ependymomas and choroid plexus tumors, sarcoma in children and maternal breast cancer
li-fraumeni syndrome
174
disease associated with hemgioblastomas in the cerebellum, medulla and spinal cord
von Hippel-lindau disease
175
syndrome with triad of impaired upward gaze, dilated pupils that accommodate but don't react to light, retraction nystagmus with lid retraction
parinaud syndrome (compression of midbrain tectum with pineal tumors)
176
most common malignant CNS tumor in childhood
medullloblastoma
177
most common CNS tumors in childhood
gliomas
178
most common posterior fossa tumor of childhood
cerebellar astrocytoma
179
most common benign liver tumor of childhood
hemangioma
180
histologic feature required for diagnosis of Langerhans cell histiocytosis
intra/extracellular staining with CD207 (lantern) or extracellular staining with CD1a
