Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Liz's Hematology Module 2 > Other Alterations in Granulocytes and Monocytes > Flashcards

Other Alterations in Granulocytes and Monocytes Flashcards

1
Q

Genetic mutation where phagocytes are unable to produce superoxide and reactive oxygen series

A

Chronic Granulomatous Disease (CGD)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Chronic Granulomatous Disease

- 2 most common modes of inheritance

A
  • Sex-linked (X linked recessive; more common in males)

- Autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Chronic Granulomatous Disease

- Prognosis

A

Death usually around 5-7 years due to bacterial infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Chronic Granulomatous Disease

- Manifestations

A
  • Defective or absent respiratory burst
  • Reduced membrane NADH or NADPH
  • Absence of superoxide anion and H2O2
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Chronic Granulomatous Disease

- Physical manifestations

A
  • Chronic pyogenic infections of all systems
  • Abscess formation
  • Lymphadenopathy
  • Hepatosplenomegaly
  • Anemia of chronic inflammation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Chronic Granulomatous Disease

- PB findings

A
  • Toxic granulation
  • Hypogranulation
  • Vacuolization
  • Doehle bodies
  • Immature granulocytes
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Chronic Granulomatous Disease

- Testing

A
  • Nitroblue tetrazolium reduction (NBT test)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

In a NBT test, normally the dye is reduced by NADPH oxidase to form black formazan deposits. What happens in a cell w/ CGD?

A

There is no dye reduction in CGD, and no color change because NADPH oxidase is not functional

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Results in the inability of neutrophils and monocytes to exit the blood vessel and enter the tissues

A

Leukocyte Adhesion Deficiency (LAD)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Results in repeated infections despite leukocytosis

A

Leukocyte adhesion deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Leukocyte adhesion deficiency

- Inheritance mode

A

Rare autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Mutation resulting in reduced or defective beta2 integrin subunits (CD18) which are found on the leukocytes

A

Type 1 Leukocyte adhesion deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Mutation resulting in faulty selectins (CD62E) which are found on the endothelial cells

A

Type 2 Leukocyte adhesion deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Mutation resulting in a faulty binding mechanism between the b2 intern subunits and the selections on the endothelial cells

A

Type 3 Leukocyte adhesion deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Leukocyte adhesion deficiency

- Hallmark of the disease

A
  • 3 different mutations each resulting in a different defect in the leukocyte adhesion process
  • Patient has marked leukocytosis
  • Recurrent infections
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Leukocyte adhesion deficiency

- “Cure”

A

BM or stem cell transplantation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Caused by inborn errors of metabolism in which specific enzyme deficiencies allow the accumulation of products of cellular metabolism w/in lysosomes

A

Lysosomal storage disorders (LSD)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What are the two broad categories of lysosomal storage disorders?

A
  • Mucopolysaccharide storage disorders

- Lipid storage disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Membrane bound structures present in cytoplasm of most cells. They contain hydrolytic enzymes that usually digest complex macromolecules that are normal products of cell metabolism.

A

Lysosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What cells are rich in lysosomes?

A

Cells of monocyte/macrophage system

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Pathogenesis of lysosomal storage disorders

A
  • Enzyme deficiency leads to accumulation of cell metabolism and disrupts normal architecture
  • Spleen and liver are often enlarged
  • BM may be replace by macrophages
  • Pancytopenia
  • Vacuolated lymphocytes
  • CNS may be involved
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Lysosomal storage disorder

- Mode of inheritance

A

Autosomal recessive

23
Q

Lysosomal storage disorder

- Broad diagnosis

A
  • Hepatomegaly and/or splenomegaly
  • Slow physical and/or mental development
  • If CNS involved, seizures or blindness my occur
24
Q

This may be seen in many of the lysosomal storage disorders, but most characteristic in Tay Sachs

A

Cherry-red spot on back of the eye

25
Q

Lysosomal storage disorder

- Treatment

A
  • Enzyme replacement therapy

- BM transplant

26
Q

What are the 4 lysosomal storage disorders?

A
  • Mucopolysaccharidoses (MPS) (aka Alder-Reilly anomaly)
  • Gaucher disease
  • Neimann-Pick disease
  • Tay-Sachs disease
27
Q

Deficiency in the beta-glucocerebrosidase leading to an increase in glucocerebroside

A

Gaucher disease

28
Q

General pathogenesis of all 3 types of Gaucher disease

A
  • Spleen and liver enlargement
  • Anemia
  • Thrombocytopenia
  • Growth Retardation
  • May have effects on skeletal system and nervous system
29
Q

Most common form of Gaucher disease; reduced levels of glucocerebrosidase; involves liver, spleen, lymph nodes, BM; may have skeletal effects; slight decrease in life expectancy

A

Type 1 Gaucher disease

30
Q

Most severe form of Gaucher disease; acute neuronopathic; undetectable levels of glucocerebrosidase; involves ALL tissues, including brain; mortality in early childhood

A

Type 2 Gaucher disease

31
Q

Form of Gaucher disease w/ intermediate enzyme levels; subacute neuronopathic; gradual onset; life expentancy 20-40 years

A

Type 3 Gaucher disease

32
Q

Large, lipid filled macrophages; oval eccentric nuclei; faint blue cytoplasm; chicken-scratch or crumpled tissue paper appearance

A

Gaucher cells

33
Q

Where are Gaucher cells found?

A

Found in BM, spleen, liver, and LNs

34
Q

Type 1 Gaucher disease

- Treatment

A
  • Supportive care
  • BM transplant
  • Enzyme replacement
  • Splenectomy
    (treatment very successful)
35
Q

Enzyme replacement in Gaucher Disease are very expensive. What are two of them and what are they made from?

A

Cerezyme and Vpriv

made from Chinese Hamster ovary cells

36
Q

Type 2 Gaucher disease

- Treatment

A
  • Failure to thrive
  • Hepatomegaly
  • Life expectancy: < 2 years
37
Q

Type 3 Gaucher disease

- Treatment

A
  • Less rapid progressive than type 2

- Life expectancy: 20-40 years

38
Q

Deficiency of the enzyme sphingomyelinase leading to an incrase in spingomyelin

A

Type A and B Niemann-Pick disease

39
Q

Eccentric nucleus w/ foamy cytoplasm, filled w/ droplets of lipids; pale blue and also may contain sea-blue histiocytes

A

Niemann-Pick cells

40
Q

The body cannot properly breakdown or transport LDL and it accumulates in which type of Niemann-Pick disease?

A

Type C Niemann-Pick disease

41
Q

Type A Niemann-Pick disease

- Amount of sphingomyelinase

A

< 5% of normal levels (usually undetectable)

42
Q

Type A Niemann-Pick disease

- Treatment

A
  • No effective treatment

- Death < age 2

43
Q

Type B Niemann-Pick disease

  • Amount of sphingomyelinase
  • Survival
A
  • 27x as much sphingomyelinase

- Survival into adulthood

44
Q

Type C Niemann-Pick disease

  • Increase in what?
  • Survival
A
  • Increase in LDL

- Survival into 20s and 30s

45
Q

Niemann-Pick disease

- Treatment

A

No successful treatment

46
Q

Deficiency of hexoaminidase A leads to an increase in ganglioside GM2 in neurons

A

Tay-Sachs disease

47
Q

About 1 in 20 of these people carry the gene for the infantile and adult forms of Tay-Sachs

A

Ashkenzai Jews

48
Q

Three types of Tay-Sachs disease

A
  • Classic infantile
  • Juvenile
  • Adult
49
Q

Symptoms develop at 6 months and progressively worsen. Death usually occurs before 4. No cure.

A

Classic infantile Tay-Sachs disease

50
Q

Symptoms occur between 2 and 10 years old. Death occurs before the patient is 15

A

Juvenile Tay-Sachs disease

51
Q

Symptoms between 30 and 40. Progressive neurological deterioration, survive to ages of 60-70

A

Adult Tay-Sachs disease

52
Q

What disease?

  • 1 in 280 are carriers in Ashkenazi population
  • Deficiencies in both alpha and beta subunits of hexosaminidase
  • Presents similarly to classical infantile Tay-Sachs; however, there may be some organomegaly
  • No cure
A

Standoff disease

53
Q

Tay-Sachs disease

- Treatment

A
  • No cure
  • Supportive care
  • Little success w/ other modalities due to difficulty in delivering enzyme to nerve tissues

Liz's Hematology Module 2 (13 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions