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YR5 Specialties > Paeds HAEM > Flashcards

Paeds HAEM Flashcards

1
Q

In general, which haematological disorders are autosomal dominant vs recessive?

A

Dominant = generally structural disorders
Recessive = generally metabolic disorders

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2
Q

Which genetic abnormality predisposes women to haemophilia?

A

Turner’s syndrome

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3
Q

When is haemophilia most likely to present, and with what symptoms?

A

At ~ 1y, as this is when walking (+ therefore falling) begins
Haemarthrosis
Suspicions of NAI (if no FH)

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4
Q

How does haemophilia present if it presents at neonatal age?

A

Intracranial haemorrhage
Bleeding circumcision
Prolonged bleeding from venepuncture

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5
Q

Which measures of clotting time are normal vs prolonged in haemophilia?

A

PT normal
APTT prolonged
(PT is extrinsic, APTT is intrinsic)

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6
Q

In girls, what is the top alternative differential for the same signs and symptoms as haemophilia?

A

vWD

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7
Q

How should mild haemophilia be managed?

A

Desmopressin: this stimulates f8 + vWF release

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8
Q

How should severe haemophilia be managed?

A

Prophylactic factor replacement via Hickman line

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9
Q

How should minor bleeds be managed in haemophilia?

A

IV infusion of f8/9 concentrate: raise to 30% normal

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10
Q

How should major bleeds be managed in haemophilia?

A

IV infusion of f8/9 concentrate: raise to 100%, then maintain at 30% for 2w

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11
Q

What is the other name for idiopathic thrombocytopaenic purpura?

A

Immune TP

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12
Q

In what age group is ITP seen?

A

2-6y

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13
Q

What is the most common cause of ITP?

A

Viral infection: ITP presents about 1-2w later

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14
Q

Recall the aetiology of ITP

A

Immune destruction of platelets by IgG autoantibodies
Directed against glycoprotein IIb/IIIa

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15
Q

Give 3 signs of ITP

A

Bruising
Petechial or purpuric rash
Bleeding less common- typically presents as epistaxis or gingival bleeding

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16
Q

How should ITP be investigated?

A

Diagnosis of exclusion: do an FBC + blood smear

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17
Q

How should ITP be managed?

A

In 80% of children it is acute, benign + self-limiting: will resolve spontaneously within 6-8w

Only treat if evidence of major bleeding or persistent minor bleeding

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18
Q

What advice should be given in ITP management?

A

Avoid contact sport
Avoid Aspirin + NSAIDs

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19
Q

How should major bleeding in ITP be managed?

A

IVIG
Corticosteroids: Red
Anti-RhD (if +ve)

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20
Q

What is second line management in ITP for major bleeding?

A

Rituximab
High dose dexamethasone

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21
Q

How should life-threatening haemorrhage be treated in ITP?

A

Platelet transfusion (temporary)
Splenectomy

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22
Q

When is ITP considered chronic?

A

after 6 months persistence

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23
Q

How should chronic ITP be managed?

A

Mycophenalate mofetil
Rituximab
Eltrombopag (thrombopoeitin agonist)
2nd line = splenectomy

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24
Q

Recall the symptoms of IDA In children

A

May be asymptomatic
Feeding slowly, tiring quickly, “pica” (eating soil, dirt, etc)

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25
Q

What iron supplement dose is appropriate for children?

A

Ferrous sulphate 200mg TDS

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26
Q

Upon which chromosome is the beta globin gene found?

A

Chromosome 11

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27
Q

When does HbA synthesis become predominant?

A

4-6m

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28
Q

What is the defect in sickle cell anaemia?

A

Defective beta globin chain
Glutamine to valine on codon 6 on C11

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29
Q

What is the inheritance pattern of SCA?

A

Autosomal recessive

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30
Q

Recall the genotype that encodes for sickle cell trait?

A

BB^s

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31
Q

Recall the genotype that encodes for sickle cell anaemia?

A

B^s B^s

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32
Q

Recall the genotype that encodes for HbC disease

A

B^c B^s

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33
Q

What is beta thalassaemia?

A

Redcuced beta globin synthesis

34
Q

What is the inheritance pattern of beta thalassaemia?

A

Autosomal recessive

35
Q

What are the 3 phenotypes of alpha thalassaemia and genotypes?

A

4 alpha globin deletions = alpha thalassaemia major/ Hb Barts

3 alpha globin deletions = HbH disease

1/2 alpha globin deletions = alpha thalassaemia trait

36
Q

What is the prognosis of each of the phenotypes of alpha thalassaemia?

A

Hb Barts = fatal in utero via hydrops fetalis

HbH disease = mild/ mod anaemia

Trait = asymptomatic with mild/ no anaemia

37
Q

What is the gold standard diagnostic method for both SCD/ thalassaemia?

A

Electrophoresis

38
Q

What is the most common early sign of SCD?

A

Hand + foot syndrome (swollen hands + feet + dactylitis)

39
Q

What 2 infections are people with SCD particularly at risk of getting?

A

Pneumococcus + parvovirus

40
Q

What symptom of SCD only presents in children (not adults)?

A

Splenomegaly

41
Q

What screening test should be done in suspected SCD?

A

Solubility test

42
Q

What is the gold standard diagnostic method for SCD?

A

Haemoglobin electrophoresis

43
Q

What would a blood smear show in SCD?

A

Sickle cells, Howell-Jolly bodies, nucleated RBCs

44
Q

What prophylactic medications should be given to people with SCD?

A

OD oral penicillin
OD oral folic acid

45
Q

Why is folic acid given in SCD?

A

Hyperplastic erythropoiesis, growth spurts, increased turnover

46
Q

How should acute crises be treated in sickle cell disease?

A

Analgesia
Hydration
Abx
O2
Exchange transfusion

47
Q

How should the chronic problems of SCD be treated?

A

Hydroxycarbamide
HSCT in severe cases

48
Q

Recall the 3 key signs and symptoms of beta thalassaemia major

A

Extramedullary haematopoiesis
Anaemia
Iron overload

49
Q

Recall 3 signs of extramedulllary haematopoiesis

A

Bone expansion
Hepatosplenomegaly
Frontal bossing

50
Q

Recall the signs of beta thalassaemia trait

A

Microcytosis: otherwise asymptomatic

51
Q

What would a blood smear show in thalassaemia?

A

Microcytic red cells
Tear drop cellls
Microspherocytes
Target cells
Schistocytes
Nucleated RBCs

52
Q

How should beta thalassaemia major be managed?

A

Blood transfusion +/-Iron chelation (desferrioxamine/ deferiprone)

53
Q

Recall 4 signs and symptoms of HDN in the newborn?

A

Yellow amniotic fluid
Pallor
Jaundice 24-36 hours after birth
Hydrops fetalis (hepatosplenocardiomegaly)

54
Q

How can HDN be investigated?

A

Coombe’s test pos
Haemolysis –> raised uBR and reticulocytes
Amniocentesis/ USS (shows organomegaly)

55
Q

How can HDN be prevented?

A

Prophylaxis within 72h of a sensitising event
Kleiheur test can determine need for more
If before 20w: 250IU
If after 20w: 500IU
Routine antenatal anti-D prophylaxis is done if necessary, following antibody screen at 28w
Prophylaxis = 2 doses of anti-D

56
Q

How can HDN be treated?

A

Phototherapy (uBR)
IV Ig (if BR is rising fast)
If severe or in utero –> transfusion into umbilical vein

57
Q

Which 6 inborn errors of metabolism are tested for at the newborn blood test screen?

A

PKU
MCADD
Glutaric Aciduria T1
Isovaleric acidaemia
Homocysteinuria
MSUD

58
Q

What is the inheritance pattern of those inborn errors of metabolism?

A

Autosomal recessive

59
Q

What is the deficiency in PKU?

A

Phenylalanine hydroxylase

60
Q

Recall the typical appearance of a child with PKU

A

Blonde hair, blue eyes, eczema, microcephaly

61
Q

What are the symptoms of PKU (unmanaged)?

A

Learning difficulties and seizures

62
Q

How is PKU managed?

A

Low phenylalanine diet

63
Q

Recall the signs and symptoms of MCADD

A

Encephalopathy within 1w + SIDS
Hypoglycaemia and hypoketonuria

64
Q

What investigation is done to diagnose MCADD?

A

Urinalysis: shows absent ketones and medium-chain dicarboxylic aciduria

65
Q

What is G6PD’s role?

A

Rate limiting enzyme in the pentose phosphate shunt

66
Q

What is the inheritance pattern of G6PDD?

A

X - linked

67
Q

What are the main signs and symptoms of G6PDD?

A

Neonatal jaundice
Acute intravascular haemolysis (–> fever, malaise, abdo pain and dark urine)

68
Q

What type of disease is Gaucher’s disease?

A

Lysosomal storage disease

69
Q

What is Gaucher’s disease a deficiency of?

A

Beta-glucosidase

70
Q

Which group of people are particularly at risk of getting Gaucher’s?

A

Ashkenazi Jews

71
Q

What are the 2 forms of Gaucher’s disease, and their symptoms?

A

Acute infantile form: hepatosplenomegaly, neurological degeneration with seizures
Chronic childhood form: hepatosplenomegaly and BM suppression (with anaemia)

72
Q

Which form of Gaucher’s disease is most common?

A

The chronic childhood form

73
Q

What would be seen on BM aspirate in Gaucher’s disease?

A

Gaucher cells

74
Q

How is Gaucher’s disease managed?

A

Splenectomy, bisphosphonates (because of BM suppresion), enzyme replacement, treat anaemia

75
Q

What is the most common form of galactosaemia?

A

Gal-1-PUT deficiency

76
Q

Recall the signs and symptoms of galactosaemia

A

High cBR
Hepatomegaly
Hypoglycaemia
Sepsis (gal-1-phos inhibits the immune response)

77
Q

How does galactosaemia present if not picked up in infancy?

A

BL cataracts

78
Q

How is galactosaemia managed?

A

Avoidance of galactose

79
Q

How many types of glycogen storage disease are there?

A

5

80
Q

What symptoms are specific to McArdle’s GSD?

A

Muscle cramps/ weakness after first few mins of exercise, followed by a second ‘wind’ of energy

81
Q

Recall the symptoms of GSD with the reason behind each one

A

Hypoglycaemia (G6P cannot leave cells)
Lactic acidosis (G6P builds up as lactate)
Neutropaenia (G6P suppresses the immune system)

82
Q

How should glycogen storage disease be managed?

A

Manage intake of CHO carefully to avoid storage

YR5 Specialties (27 decks)

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