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Step 2 Pediatrics > Pediatric Hematologic Disorders > Flashcards

Pediatric Hematologic Disorders Flashcards

1
Q

How is the etiopathogenesis of Diamond-Blackfan anemia different from Fanconi anemia?

A

Diamond-Blackfan anemia:
-pure RBC aplasia d/t intrinsic defect in erythroid progenitor cells.
-Autosomal dominant
-Lab: Macrocytic normochromic anemia WITHOUT cytopenia.
-BM: normal cellularity with markedly low/absent erythroid precursors.

Fanconi anemia:
-Chromosomal fragility d/t mutations of multiple DNA cross-link repair genes ->
-AR or X-linked.
-Lab: Macrocytic normochromic anemia WITH PANCYTOPENIA.
-BM: hypocellular.

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2
Q

True/False?

Reticulocytopenia is seen in both Diamond-Blackfan anemia and Fanconi anemia.

A

true.

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3
Q

The onset of illness caused by anemia in Diamond-Blackfan anemia is around _____ age, whereas in Fanconi anemia is around ___ age?

A

Diamond-Blackfan anemia:
Illness onset at age < 1 year;

Fanconi anemia:
Illness onset within first 8 yrs of life.

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4
Q

Congenital anomalies and increased risk of malignancies are associated with _____ anemia (? Diamond-Blackfan, Fanconi, both).

A

both

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5
Q

Increased risk of which malignancies is a/w Diamond-Blackfan anemia (as well as Fanconi anemia)?

A

-AML
-MDS
-Solid tumors (colon ca, others).

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6
Q

People of _____ descent have increased carrier frequency for Fanconi anemia.

A

Ashkenazi-Jewish descent

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7
Q

Approx. ___ % of patients with Diamond-Blackfan anemia have congenital anomalies such as ____ (list all).

A

-mainly of the head and upper limbs.
-Cranio-facial: low-set ears, micrognathia, cleft palate, broad nasal bridge.
-congenital cataracts or glaucoma.
-ASD, VSD
-UE: triphalangeal thumbs.
-Intellectual disability.
-hypogonadism.
-short stature.

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8
Q

Corticosteroids are the first-line treatment in ______ patients with Diamond-Blackfan anemia.

A

children ≥ 1 year old.

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9
Q

_____ is the mainstay management in infants < 1 year old, and steroid refractory patients with Diamond-Blackfan anemia.

A

RBC transfusions

*monitor for iron overload or hemosiderosis in patients.

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10
Q

____ is the curative treatment in patients with Diamond-Blackfan anemia.

A

Stem cell transplant.

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11
Q

Fanconi Anemia vs Fanconi syndrome?

A

Fanconi Anemia:
-AR/XLR defect in DNA cross-link repair -> ↑↑ chromosomal fragility.
-Anemia with pancytopenia.
-Congenital anomalies (VACTERL)
-↑↑ r/o hematologic malignancies and solid tumors.
-BM is hypocellular

Fanconi syndrome
-rare disorder of renal tubular function -> defective reabsorption
-excessive glucose, amino acids, HCO3-, phosphate in urine.
-Vit D-resistant rickets (d/t hypophosphatemia).

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12
Q

Congenital anomalies in Diamond-Blackfan anemia vs Fanconi anemia?

A

Diamond-Blackfan anemia:
-in ~ 50% of cases (head, upper limb)
-Cranio-facial: low-set ears, broad nasal bridge, micrognathia, cleft palate, cataracts, glaucoma.
-Cardiac: ASD, VSD
-TRIPHALANGEAL THUMBS
-Intellectual disabilities
-hypogonadism, short stature.

Fanconi anemia:
-Short stature, microcephaly
-developmental delays
-cafe au lait skin lesions
-VACTERL-H: vertebral anomalies, anal atresia, cardiac defects, TE fistula, esophageal atresia, renal, radial and limb anomalies, and hydrocephalus.
-Thumbs absent/hypoplastic

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13
Q

In addition to Diamond-Blackfan and Fanconi anemia, what are some other causes of inherited bone marrow failure?

A

-Shwachman-Diamond (exocrine pancreatic and bone marrow dysfunction, skeletal abnormalities).

-Thrombocytopenia absent radius (TAR) syndrome: bilateral radial bone aplasia in the presence of thumbs.

-Amegakaryocytic thrombocytopenia
-Severe congenital neutropenia.

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14
Q

List some acquired causes of bone marrow failure?

A
  1. Acquired aplastic anemia c/by
    -drugs, radiation, chemicals
    -Viral infections: esp. Parvovirus
    -immune disorders
  2. MDS
  3. PNH
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15
Q

The recurrence of neutropenia in children affected with cyclic neutropenia typically occurs every ____weeks.

A

every 3 weeks (21-day turnover frequency).

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16
Q

Patients with cyclic neutropenia usually have a periodic decrease in absolute neutrophil count, and p/w a clinical syndrome characterized by
_____ s/s.

A

p/w a clinical syndrome marked by
-recurrent fever,
-oral mucosal ulcers, gingivitis, tonsillitis, pharyngitis,
-skin infections,
-swollen lymph nodes,
-respiratory infections,
-periodontitis with alveolar bone loss during childhood.

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17
Q

True/ False?
The clinical course in cyclic neutropenia is usually benign compared to other conditions with neutropenia.

A

True;

The systemic s/s such as recurrent fevers usually diminish after adolescence; however, adult patients continue to experience oral ulcers, gingivitis, periodontitis, and other infections.

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18
Q

_____ complications (list all) are a/w high mortality in patients with cyclic neutropenia.

A

-NEC
-Peritonitis
-Sepsis

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19
Q

_____ syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia (hypo-megakaryocytic) that is generally transient.

A

Thrombocytopenia absent radius (TAR) syndrome

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20
Q

What is the inheritance pattern and cause of TAR syndrome?

A

autosomal recessive deletion and/or mutation of RBM8A gene.

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21
Q

What is the specific distinguishing feature between TAR syndrome and Fanconi anemia, both of which can present with upper limb (specifically radial bone) defects?

A

both thumbs are present in the absence of both radii in TAR syndrome;

whereas thumbs are usually absent or hypoplastic in Fanconi anemia.

22
Q

Patients with TAR syndrome present with ____ s/s.

A
  1. Thrombocytopenia induced s/s
    -frequent nose or GI bleed
    -bruising
    -life-threatening hemorrhages
  2. Congenital Anomalies
    -radial aplasia (see attached image)
    -cardiac: ASD, VSD, TOF
    -facial: micrognathia, tall, broad forehead, hypertelorism
    -LL: hip dislocation, femoral and tibial torsion.
23
Q

True or false?
Thrombocytopenia in TAR syndrome may be congenital, or develop within the first few weeks to months of life.

A

True

24
Q

Patients with TAR syndrome frequently exhibit allergy to ____.

A

cow’s milk

*vomiting, bloody diarrhea, FTT.

25
Q

_____ may exacerbate thrombocytopenia in TAR syndrome.

A

cow’s milk

26
Q

TAR syndrome may be precipitated by ___, ___ and ____.

A

-stress
-infection, and
-cow’s milk

27
Q

____ is a/w increased mortality in patients with TAR syndrome.

A

intracranial hemorrhage

28
Q

____ pharmaceutical agents must be avoided or used with caution in patients with TAR syndrome d/t somewhat impaired platelet function.

A

NSAIDs or aspirin

29
Q

In addition to the characteristic thrombocytopenia, lab tests may reveal _____ results in TAR syndrome.

A

-↑ WBC;
-↑↑ Eosinophils (~ 50% of cases)
-Low Hb

30
Q

____ is an autosomal recessive disorder caused by a mutation in the beta-globin chain of the adult hemoglobin (HbA), where amino acid glutamine is replaced by valine leading to the formation of hemoglobin S (HbS) with an increased tendency to deform into a sickled shape under stress.

A

Sickle cell disease (SCD).

31
Q

HbS homozygotes (HbSS) usually p/with _____ (disease), whereas HbS heterozygotes (HbAS) p/with ____ manifestation.

A

HbSS -> p/w sickle cell anemia

HbAS -> p/w sickle cell trait.

32
Q

True/false?
Heterozygotes for the abnormal hemoglobin gene (HbAS) are relatively protected against P. falciparum malaria.

A

true.

33
Q

Sickling and eventual vaso-occlusive crises can be triggered by _____ factors or conditions.

A

MN: HIDe in the COLD!

(H) Hypoxia: e.g. at high altitude, pneumonia/respiratory illness.
(I): Infection/Illness
(D): Dehydration

COLD temperature.

34
Q

____ and ____ may be the initial presenting s/s of underlying sickling in SCD patients in response to the precipitating triggers such as deoxygenation, dehydration, and/or exposure to cold.

A

polyuria and/or nocturia

*develops due to sickling in the vasa recta in the renal medulla compromising the capacity of the medulla to concentrate the urine.

35
Q

_____ is the classic presentation and most distinguishing clinical feature of SCD.

A

Pain crisis aka vaso-occlusive crises (VOC):
sudden onset severe chest, back or thigh pain with (or without) fever.

36
Q

For the first 6 months of life, infants with abnormal HbSS (homozygous) are protected largely by _____ Hb.

A

fetal hemoglobin (Hb F).

37
Q

____ is/are the most common clinical manifestation (s) of SCD.

A

Acute (aka pain crisis) and chronic pain;

*pain crises aka vaso-occlusive crises (VOC) are the most distinguishing clinical feature of SCD.

38
Q

The chief causes of pulmonary infiltrations in patients with acute chest syndrome include _____ (list all).

A

-fat embolism triggered by vaso-occlusion in the bone marrow.

-pulmonary infection with S. pneumoniae, Mycoplasma, Chlamydia, or viruses.

39
Q

SCD patients might first p/w _____ and/or ____ during early childhood.

A

-dactylitis and/or
-bilateral hand or foot swelling.

40
Q

Other than the distinguishing pain crises, SCD patients may present with _____ s/s during childhood.

A
  1. Lifelong Hemolysis
    -chronic hemolytic anemia,
    -jaundice
    -pigmented cholelithiasis
  2. Bone:
    -life-long acute/chronic bone pains (esp. long bones d/t marrow infarcts,
    -Osteomyelitis
    -AVN of the femoral/humeral head.
  3. Aplastic crisis: triggered by parvovirus B19 (↓RC & ↓ Hct).
  4. Splenic sequestration: sudden pooling of blood in the spleen -> life-threatening hypovolemia with anemia (↑↑ RC & ↓ Hct).
  5. Infections with encapsulated bacteria esp. S. pneumoniae;
    adult infections predominantly with GNB esp. Salmonella.
  6. Growth retardation, delayed sexual maturation, underweight.
  7. Hand-foot syndrome: bilateral dactylitis presenting as swollen, painful hands and/or feet in children.
  8. Pulm. hypertension: serious complication of SCD.
  9. CNS infarcts: stroke, cognitive deficits, seizures.
  10. Ophthalmologic: Ptosis, retinal vascular changes, proliferative retinitis.
  11. Cardiac: RV/LV and LA dilation.
  12. GI: pigmented cholelithiasis, liver disease.
  13. GU: priapism, inability to concentrate urine, SC nephropathy.
  14. Skin: Chronic painful leg ulcers.
  15. Acute abdomen (mesenteric ischemia).
41
Q

____ pathogen is the most common cause of osteomyelitis in patients with SCD; ___ is the second most common cause.

A

Staph. aureus is the mcc;

Salmonella is the second mcc.

42
Q

Approximately ____ % of individuals with homozygous HbS disease experience vaso-occlusive crises.

A

50%

43
Q

What are the main treatment goals in patients with SCD?

A
  1. M/m of vaso-occlusive crisis
  2. M/m of chronic pain syndromes
  3. M/m of chronic hemolytic anemia
  4. Prevention and t/t of infections
  5. M/m t of the complications and the various organ damage syndromes associated with the disease
  6. Prevention of stroke
  7. Detection and t/t of pulmonary hypertension.
44
Q

Patients with sickle cell trait have normal Hb and RBC morphology, and are mostly asymptomatic. However, over a long time, they may experience ____ s/s.

A

hematuria (d/t renal papillary necrosis),
-hyposthenuria
-high r/o UTIs
-asymptomatic bacteriuria,
-splenic infarction,
-rhabdomyolysis,
-exercise-induced death.

45
Q

_____ and ____ are types of SCD other than HBSS.

A

HBSC (Hb S from one parent and Hb C from the other), and
HB S beta-thalassemia (very rare).

46
Q

Hb C is caused by the replacement of amino acid _____ with ______.

A

replacement of glutamic acid with lysine.

47
Q

What is the MOA of hydroxyurea in the m/m of chronic SCD?

A

hydroxyurea
-stimulates the production of HbF
-helps prevent the recurrence of VOCs.

48
Q

____ must be regularly monitored in SCD patients undergoing m/m with hydroxyurea.

A

WBCs d/t the r/o myelosuppression (mild) with hydroxyurea.

49
Q

When is chronic blood transfusion therapy indicated in the m/m of patients with SCD?

A

when m/m with hydroxyurea is ineffective.

50
Q

___ supplementation is often required in patients with SCD d/t ___.

A

Folic acid;

d/t frequent RBC turnover.

51
Q

___ strategies are indicated to prevent infections with encapsulated bacteria in SCD patients who have/may experience autosplenectomy.

A

-pneumococcal vaccination
-prophylactic penicillin in children aged < 5 years old.

52
Q

VOCs in SCD patients is/are managed with _____ strategies.

A

-Adequate analgesia
-O2 therapy
-Aggressive hydration
-Antibiotics if infection is suspected to be the trigger.

Step 2 Pediatrics (15 decks)

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