Pediatric Cases Flashcards
How does the concentration of 2,3-DPG change with anemia?
It increases within the RBC
The oxygen curve shifts right or left in anemia?
To the right - oxygen is easily detached from hemoglobin to deposit into tissue
What is the first test you want to order if you suspect anemia?
Hemoglobin and hematocrit
What is the next test after the H/H to order/look at?
MCV, MCH, MCHC
After you look at MCV, what do you look at next?
Reticulocyte index (<2 is normal)
Less than normal would indicate bone marrow production problem
Greater than normal would indicate increased hemolysis
When is the physiologic nadir of H/H in infants?
2 months old
What is an important congenital infection that can cause hemolytic anemia?
Parvovirus B19
What is diamond blackfan syndrome?
Pure red cell aphasia - macrocytic anemia with low reticulocyte count
What it’s the most common inherited form of aplastic anemia?
Fanconi anemia
What can fanconi anemia progress to ?
Pancytopenia around age 10
What will the peripheral smear show for iron deficiency anemia?
Hypochromic microcytes
Target cells
What is the mentzer index used for?
To differentiate iron deficiency anemia from beta thalassemia
What does a mentzer index of >13 indicate?
Iron deficiency anemia
<13 - beta thalassemia is more likely
What does basophilic stippling on peripheral smear indicate?
Lead poisoning
Microcytic hypochromic
What is the inheritance of: G6PD HS Thalassemia SCD
X linked
AD
AD
AR
What does HUS present after?
Acute gastroenteritis
What is the classic triad for HUS?
MAHA
Thrombocytopenia
Acute renal failure
what is the most common cause of isolated thrombocytopenia in otherwise well children?
Acute immune thrombocytopenia (ITP)
What is the platelet count in ITP?
<20,000
Are the PT/PTT in ITP increased or decreased?
Normal !
What is the treatment of acute ITP?
Prednisone
What is kasabach-merritt syndrome?
Thrombocytopenia and hypofibrinogenemia secondary to giant hemangioma and associated intravascular coagulation
What are B symptoms?
Unexplained fever
Weight loss >10%
Drenching night sweats
What is the triad for wiscott Aldrich syndrome? (X linked recessive)
Recurrent sino-pulmonary and ear infections
Severe atopic dermatitis
Bleeding
What trisomy is found in AML and ALL ?
Trisomy 21
What is the absolute neutrophil count equation (ANC)?
((%neutrophils+%bands)x (WBC))/100
What happens if the ANC is <500?
The risk of severe infections is high
What is Kostmann syndrome?
Severe congenital neutropenia
What are the clinical manifestations of Kostmann syndrome?
Life threatening pyogenes infections in infancy
What causes Kostmann syndrome?
Impaired myeloid differentiation caused by maturational arrest of neutrophil precursors
What is the inheritance of Kostmann syndrome?
Autosomal recessive
What are the clinical manifestations of cyclic neutropenia?
Cyclic fever, oral ulcers, gingivitis, periodontal disease, recurrent bacterial infections
What disease is described by a stem cell regulatory defect resulting in defective maturation
Cyclic neutropenia
What is the inheritance pattern of cyclic neutropenia?
Sporadic or AD
What is the triad in Shwachman diamond syndrome?
Neutropenia
Skeletal abnormalities
Exocrine pancreas insufficiency
Which disease is caused by a defect in neutrophil mobility, migration and chemotaxis in addition to neutropenia?
Shwachman diamond syndrome
What is the inheritance pattern shwachman diamond syndrome?
AR
Scwachman diamond syndrome increases the risk of which malignancy?
Myelodysplastic syndrome or leukemia
What is fanconi anemia?
Autosomal recessive disorder in which there is a bone marrow failure that results in pancytopenia
What is leukocyte adhesion deficiency?
Delayed separation of umbilical cord >3 weeks, recurrent and severe bacterial and fungal injections without pus accumulation
What’s the triad of hyper IgE syndrome?
Eczema
Recurrent bacterial infections of the skin
Recurrent pulmonary infections
What is the inheritance of hyper IgE syndrome?
Autosomal dominant
Which disease results from defects in granule morphogenesis, chemotaxis and degranulation?
Chediak higashi syndrome
A defect in oxidative metabolism, absent generation of superoxide describes what disorder?
Chronic granulomatous disease
What is a virus that commonly causes neutropenia in chillens?
Parvovirus B19
