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Genetics > Inherited Bone Marrow Disorders > Flashcards

Inherited Bone Marrow Disorders Flashcards

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Biology 101 flashcards
1
Q

What gene is affected in Diamond Blackfan Syndrome?

A

RPS19 gene

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2
Q

How is Diamond Blackfan Syndrome inherited?

A

Autosomal dominant (in 25%)

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3
Q

When do symptoms of Diamond Blackfan Syndrome typically develop?

A

Early infancy 2-6 months

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4
Q

What blood abnormalities are seen in Diamond Blackfan?

A
  1. Anemia
  2. Low retics
  3. Absent RBC precursors in an otherwise normal marrow
  4. Macrocytic RBCs
  5. Elevated ADA activity

(Bottom 2 are needed for dx)

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5
Q

Other anamolies are seen in 50% of those with Diamond Blackfan anemia. What are 3 typical craniofacial anamolies seen?

A
  1. Hypertelorism
  2. Snub nose
  3. High arched palate
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6
Q

Skeletal anomalies are seen in 30% of those with DB anemia, what 2 features are typical?

A
  1. Triphalangeal thumb

2. Flat thenar eminence

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7
Q

Name 3 other features associated with DB anemia?

A
  1. Short stature
  2. Cardiac - VSD, ASD, coarctation
  3. Eye features- glaucoma, strabismus, cataract
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8
Q

How do you tx DB anemia?

A
  1. Low dose steroids, (25% can resolve spontaneously by 25yrs)
  2. HSCT
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9
Q

How is Fanconi Anemia inherited? What does it cause?

A

AR, chromosomal fragility, all racial/ethnic grps

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10
Q

True or false: individuals with Fanconia anemia will ALL of physical features, or pancytopenia or BOTH of these features

A

True.

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11
Q

What 3 cancers are individuals with Fanconi Anemia at increased risk for at a young age?

A
  1. Myelodysplastic syndrome (MDS)
  2. AML
  3. Squamous cell carcinoma
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12
Q

Name 3 skin features that can be seen with Fanconi Anemia

A

Note skin is most common physical finding (56%)

  1. Hyperpigmentation of the trunk, neck and intertriginous areas
  2. Cafe au lait spots
  3. Vitiligo
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13
Q

Skeletal manifestations are seen in 46% cases of Fanconi anemia. What are 4 examples of these?

A
  1. Short stature
  2. Thumb and radial malformations (absent, hypoplastic)
  3. Congenital hip dysplasia
  4. Leg/foot abnomralities
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14
Q

True or false: GU abnormalities such as underdeveloped penis, undescended or atrophic testes, or malformations of the vagina and uterus can be seen in Fanconi Anemia

A

True

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15
Q

Name 4 facial features of Fanconi Anemia

A
  1. Microcephaly
  2. Small eyes
  3. Epicanthal folds
  4. Abnormal ears
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16
Q

How do you diagnose Fanconi Anemia?

A

Chromosomal breakage studies

Gene sequencing

17
Q

How do you tx Fanconi Anemia?

A

Monitoring

HSCT

18
Q

How is Schwachman-Diamond Syndrome inherited?

A

AR

affects all racial/ethnic groups

19
Q

What gene is affected in Schwachman-Diamond syndrome?

A

SBDS gene which is necessary for ribosomal biogenesis

20
Q

What cell lines are affected in Schwachman-Diamond?

A

Can affect all cell lines (pancytopenia), but commonly neutropenia>thrombocytopenia>anemia

21
Q

What cancers are individuals with Schwachman-Diamond predisposed to?

A
  1. MDS and leukemia
22
Q

Why does pancytopenia occur in Schwachman-Diamond?

A

Dysfunctional hematopoietic stem cells, accelerated apoptosis of marrow progenitors, and bad BM microenvironment, risk of infection

23
Q

Name one other common GI finding in Schwachman Diamond

A
  1. Pancreatic insufficiency causing fat malabsorption from birth, 50% improve w age
24
Q

What is the typical growth pattern of those with Schwachman Diamond?

A
  1. Short stature <3rd percentile

2. Normal growth velocity

25
Q

Name 4 skeletal manifestations of Schwachman Diamond

A
  1. Delayed bone maturation
  2. Metaphyseal dysplasia
  3. Flared ribs
  4. Thoracic dystrophy
26
Q

Name 4 other manifestations of Schwachman Diamond

A
  1. Hepatomegaly
  2. Elevated liver enzymes
  3. Dental abnormalities
  4. Cognitive impairment w delayed social skills
27
Q

How do you diagnose Schwachman Diamond

A
  1. Clinical or genetic testing (microarray)
28
Q

How do you tx Schwachman Diamond

A
  1. Pancreatic enzyme replacement

2. G-CSF for neutropenia

Genetics (22 decks)

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