Pediatrics Flashcards
1
Q
Kostmann syndrome
A
- AR –> maturational arrest of neutrophil precursors
- ANC < 200 (severe) –> life-threatening pyogenic infection
- increased risk of AML
2
Q
cyclic neutropenia
A
- sporadic/AD –> stem cell regulatory defect –> defective maturation of neutrophils
- ANC < 200 (severe) for 3-7 days every 3 weeks
- cyclic fever, oral ulcers, gingivitis, periodontal disease, and bacterial infections
3
Q
Schwachman-Diamond syndrome
A
- AR –> neutropenia and defects in neutrophil mobility, migration, and chemotaxis
- triad of neutropenia, exocrine pancreas insufficiency, and skeletal abnormalities
- increased risk of myelodysplastic syndrome or leukemia
4
Q
Fanconi anemia
A
- AR –> bone marrow failure affecting all cell lines
- presents within the first 10 years of life
- GU and skeletal abnormalities
- increased risk of AML, brain tumors, and Wilms tumor
5
Q
leukocyte adhesion deficiency
A
- AR –> neutrophils with diminished adhesion to surfaces
- delayed separation of the umbilical cord
- recurrent, severe bacterial and fungal infections w/o pus accumulation
6
Q
hyper-immunoglobulin E syndrome (Job syndrome)
A
- sporadic/AD/AR –> defective chemotaxis of neutrophils, increased IgE, and eosinophilia
- triad of severe eczema, recurrent Staph infections of th skin, and recurrent bacterial/fungal pulmonary infections
- increased risk of Hodgkin lymphoma
7
Q
Chediak-Higashi syndrome
A
- AR –> defective granule morphogenesis, granulocyte chemotaxis/degranulation, and ineffective granulopoiesis
- partial oculocutaneous albinism
- peripheral and cranial neuropathies
- neutropenia –> recurrent pyogenic infections
8
Q
chronic granulomatous disease
A
- XR/AR –> defective oxidative metabolism –> absent generation of superoxide
- recurrent purulent infections with fungal or catalase (+) organisms
- chronic inflammatory granulomas
9
Q
absolute neturophil count (ANC)
A
(% n + % bands) x WBC / 100
10
Q
mentzer index
A
MCV / RBC count (million)
> 13, iron deficiency; < 13 B thalassemia
