Pediatric Disorders - cont. Flashcards
Acute and Chronic ITP - age of onset?
Acute - 2-6 years old
Chronic - 20-40 year old women usually
Acute and Chronic ITP - prior infection?
Acute - prior viral infection 1-3 weeks prior
Chronic - NONE
Acute and Chronic ITP - onset of bleeding?
Acute - rapid
Chronic - insidious
Acute and Chronic ITP - platelet levels?
Acute - < 20K
Chronic - 30K-80K
Acute and Chronic ITP - duration?
Acute - 2-6 weeks
Chronic - months/years
Acute and Chronic ITP - eosinophilia and lymphocytosis present?
Acute - Yes
Chronic - No
Acute and Chronic ITP - remission?
Acute - common spontaneous remission
Chronic - rare
How is Wiscott-Aldrich syndrome inherited and what does it predispose to development of?
X-linked recessive
- Increased risk for NON-Hodgkin lymphoma
Symptoms of Wiscott-Aldrich syndrome?
- Thrombocytopenia
- Atopic dermatitis
- Recurrent sino-pulmonary and ear infections
Thrombotypenia, atopic dermatitis, and recurrent sino-pulmonary and ear infections suggests?
Wiscott-Aldrich syndrome
Wiscott-Aldrich syndrome predisposes to development of?
NON-Hodgkin Lymphomas
Kostmann Syndrome ANC level?
ANC < 200
Kostmann Syndrome has an increased risk for?
AML due to maturation of neutrophil precursors
Cyclic Neutropenia ANC level?
ANC < 200 for 3-7 days every 15-35 days
ANC < 200 for 3-7 days every 15-35 days suggests?
Cyclic Neutropenia
Symptoms of Cyclic Neutropenia?
Cyclic fever, recurrent bacterial infections
Oral ulcers and gingivitis
How can Cyclic Neutropenia be inherited?
Autosomal Dominant or sporadic
3 symptoms for Schwachman-Diamond Syndrome?
Neutropenia
Exocrine pancreas insufficiency
Skeletal abnormalities
Schwachman-Diamond Syndrome has defects in?
Neutrophil mobility
How does cyclic neutropenia occur?
Stem cell regulatory defect that results in defective maturation
How is Leukocyte Adhesion Deficiency inherited?
Autosomal recessive
3 signs of Leukocyte Adhesion Deficiency?
Delayed separation of umbilical cord stump (>3 weeks)
Poor wound healing
Recurrent bacterial/fungal infection with pus
Delayed separation of umbilical cord stump, poor wound healing and recurrent bacterial/fungal infections with pus suggest?
Leukocyte Adhesion Deficiency
How is Hyper-Immunoglobin E syndrome (job syndrome) inherited?
Autosomal Dominat or sporadic
Symptoms of Hyper-immunoglobin E syndrome (job syndrome)?
Severe Eczema
Recurrent skin and pulmonary infections
Levels of IgE, eosinophils and neutrophil chemotaxis with Hyper-immunoglobin E syndrome (job syndrome)?
IgE = HIGH
Eosinophils = HIGH
Neutrophil Chemotaxis = LOW
Those with Hyper-immunoglobin E syndrome (job syndrome) are at an increased risk for?
Hodgkin lymphoma
How is Chronic Granulomatous Disease inherited?
X-linked recessive
Chronic Granulomatous Disease has a defect in?
Oxidative metabolism (no superoxide formation)
When does Chronic Granulomatous Disease start?
Infancy
Symptoms of Chronic Granulomatous Disease?
Recurrent purulent infections with fungal/catalase (+) bacteria
- chronic inflammatory granulomas
Recurrent purulent infections with fungal/catalase (+) bacteria is seen with?
Chronic granulomatous disease
What is Fanconi Anemia?
Inherited form of Aplastic Anemia
- autosomal recessive
What is an autosomal recessively inherited form of Aplastic Anemia?
Fanconi Anemia
Fanconi Anemia involves ______ in bone marrow
Increased apoptosis
GU and skeletal anomalies are seen with?
Fanconi Anemia
Symptoms of Fanconi Anemia?
Pancytopenia, Macrocytic anemia
GU and skeletal anomalies
Chromosome fragility
Symptoms of Fanconi Anemia?
Pancytopenia, Macrocytic Anemia
GU and skeletal anomalies
Chromosome fragility
When will Fanconi Anemia present?
May be up to 10 YEARS of age before it presents
When will Fanconi Anemia present?
May be up to 10 YEARS of age before it presents
Those with Fanconi Anemia are at an increased risk for?
AML, brain and wilms tumors
What is Diamond-Blackfan syndrome/anemia?
Congenital pure red blood cell aplasia that presents in infancy
What is a congenital pure red blood cell aplasia?
Diamond - Blackfan Syndrome/Anemia
When does Diamond-Blackfan syndrome/anemia present?
INFANCY
What occurs with Diamond-Blackfan syndrome/anemia?
Increased apoptosis in erythroid precursors
What occurs with Diamond-Blackfan syndrome/anemia?
Increased apoptosis in erythroid precursors
What type of anemia and reticulocyte count are present with Diamond-Blackfan syndrome/anemia?
Macrocytic anemia
LOW reticulocytes
What type of anemia and reticulocyte count are present with Diamond-Blackfan Syndrome/anemia?
Macrocytic anemia
LOW reticulocytes
Inherited forms of macrocytic anemia?
Diamond-Blackfan syndrome/anemia
Fanconi Anemia
