Paediatrics - Haematology, oncology and immunology Flashcards
1
Q
what are causes of anaemia in infancy
A
physiologic anaemia of infancy
anaemia of prematurity
blood loss
haemolysis
twin twin transfusion
haemolytic disease of the newborn
hereditary spherocytosis
G6PD deficiency
2
Q
what is physiological anaemia of infancy
A
there is a normal dip in a hemoglobin around 6 to 9 weeks of age in healthy term babies
this is caused by high oxygen delivery due to high haemoglobin at birth causing negative feedback and reduced production of EPO by the kidneys, reducing haemoglobin production
3
Q
what are causes of anaemia of prematurity
A
less time in utero receiving iron from the mother
red blood cell creation cannot keep up with rapid growth in the first few weeks
reduced erythropoietin levels
blood tests remove a significant portion of their circulating volume
4
Q
what is haemolytic disease of the newborn
A
haemolysis and jaundice in the neonate due to incompatibility between the rhesus antigens on the surface of the red blood cells of the mother and fetus
5
Q
what test can be done to check for immune haemolytic anaemia
A
a direct Coombs test - will be positive
6
Q
what are key causes of anaemia in older children
A
iron deficiency anemia - normally secondary to dietary insufficiency
blood loss - mentruation in older girls
7
Q
what are rarer causes on anaemia in children
A
sickle cell anaemia
thalassemia
leukaemia
hereditary spherocytosis
hereditary elliptocytosis
sideroblastic anaemia
8
Q
what is a common cause of blood loss causing chronic anaemia particularly in developing countries
A
helminth infection - roundworms, hookworms and whipworms
9
Q
what are causes of microcytic anaemia
A
TAILS
thalassemia
anaemia of chronic disease
iron deficiency anemia
lead poisoning
sideroblastic anaemia
10
Q
what are causes of normocytic anaemia
A
3 As and 2 Hs
Acute blood loss
Anaemia of chronic disease
aplastic anaemia
Haemolytic anaemia
hypothyroidism
11
Q
what are causes of megaloblastic macrocytic anaemia
A
B12 deficiency
folate deficiency
12
Q
what are causes of normoblastic macrocytic anaemia
A
alcohol
reticulocytosis
hypothyroidism
liver disease
drugs such as azathioprine
13
Q
what are symptoms of anaemia
A
tiredness
shortness of breath
headaches
dizziness
palpitations
worsening of other conditions
14
Q
what are symptoms specific of iron deficiency anemia
A
Pica - dietary craving of non food items
hair loss
15
Q
what are signs of anaemia
A
pale skin
conjunctival pallor
tachycardia
raised respiratory rate
16
Q
what are signs specific to iron deficiency anaemia
A
koilonychia - spoon shaped nails
angular chelitis
atrophic glossitis - atrophy of papillae
brittle hair and nails
17
Q
what investigations are done for anaemia
A
full blood count
blood film
reticulocyte count - high level indicates active production of RBC w
ferritin
B12 and folate
bilirubin
direct coombs test
haemoglobin electrophoresis
18
Q
what does a high reticulocyte count infer about the type of anaemia present
A
if there is a high reticulocyte count it shows that there is active production of red blood cells to replace lost cells, which normally indicates the anaemia is due to haemolysis or blood loss
19
Q
what type of leukaemia is most common in children
A
acute lymphoblastic leukaemia
20
Q
what age is the peak of ALL development
A
2-3 years
21
Q
what are risk factors for developing leukaemia in childhood
A
radiation exposure
downs syndrome
kleinfelter syndrome
nonnan syndrome
fanconis anaemia
22
Q
how does leukaemia present
A
persistent fatigue
unexplained fever
failure to thrive
weight loss
night sweats
pallor
petechiae and abnormal bruising
unexplained bleeding
abdominal pain
generalised lymphadenopathy
unexplained or persistent bone or joint pain
hepatosplenomegaly
23
Q
how is leukaemia diagnosed in children
A
NICE recommends referral of any child with unexplained petechiae or hepatomegaly
urgent full blood count within 48 hours
blood film - shows blast cells
bone marrow biopsy
lymph node biopsy
chest XR
CT
genetic analysis and immunophenotyping
24
Q
how is leukaemia managed in childhood
A
paediatric oncology and MDT
- chemotherapy
- radiotherapy
- bone marrow transplant
- surgery
25
what are complications of chemotherapy
failure to treat the leukaemia
stunted growth and development
immunodeficiency and infections
neurotoxicity
infertility
secondary malignancy
cardiotoxicity
26
what is the prognosis of ALL in children
overall cure rate is around 80%
27
what is immune thrombocytopenia (ITP)
condition characterised by spontaneous low platelet count causing a purpuric rash due to immune dysregulation
28
what type of immune reaction is ITP
type II hypersensitivity reaction - production of antibodies that target and destroy platelets
29
how does ITP present
usually presents in children under 10
often there is history of a recent viral illness
bleeding - from gums, epistaxis or menorrhagia
bruising
petechial or purpuric rash caused by bleeding under the skin (non blanching)
30
how is ITP diagnosed
condition is diagnosed by doing an urgent full blood count for the platelet count
exclude other causes of low platelet count
31
what is the management of ITP
dependent on how low the platelet count is
usually no treatment is required and patients are monitored until platelets return to normal
if severe thrombocytopenia or the patient is actively bleeding then give: prednisolone, IV immunoglobulins, blood transfusions and platelet transfusions (temporary)
32
why do platelet transfusions only work temporarily in ITP
because the antibodies against platelets will begin destroying the transfused platelets as soon as they are infused
33
what advice should be given to someone with a diagnoses of ITP
Avoid contact sports
Avoid intramuscular injections and procedures such as lumbar punctures
Avoid NSAIDs, aspirin and blood thinning medications
Advice on managing nosebleeds
Seek help after any injury that may cause internal bleeding, for example car accidents or head injuries
34
what are complications of ITP
Chronic ITP
Anaemia
Intracranial and subarachnoid haemorrhage
Gastrointestinal bleeding
35
what is the pathophysiology of sickle cell anaemia
during foetal development fetal haemoglobin production decreases around 32-36 weeks and adult haemoglobin increases. There is a transition from HbF to HbA, and by 6 months of age there is very little HbF.
Patients with sickle cell disease have an abnormal variant called HbS which results in the sickling of red blood cells
36
what is the inheritance pattern of sickle cell disease and the genetic mutation that causes it
autosomal recessive
caused by a point mutation in the beta haemoglobin gene on chromosome 11
37
what is the link between sickle cell and malaria
sickle cell disease is more common in areas traditionally affected by malaria such as Africa, India, the Middle east and the Caribbean.
having sickle cell trait reduces the severity of malaria
38
when is sickle cell screened for in the UK
newborn spot test at around 5 days old
pregnant women at a higher risk of being carriers are offered testing
39
what are complications of sickle cell disease
anaemia
increased risk of infection
chronic kidney disease
sickle cell crisis
stroke
avascular necrosis in large joints
pulmonary hypertension
gall stones
priapism (painful and persistent penile erections)
40
what is sickle cell crisis
refers to a spectrum of acute exacerbations caused by sickle cell disease which range from mild to life threatening
they can occur spontaneously or triggered by dehydration, infection, stress or cold weather
41
what is a vaso-occlusive crisis
known as a painful crisis - caused by the sickle shaped red cells blocking capillaries causing distal ischaemia
41
how is sickle cell crisis managed
low threshold for admission to hospital
treating infections that may have triggered the crisis
keep warm
good hydration (IV fluids may be required)
analgesia (NSAIDS should be avoided if there is renal impairment)
42
how does vaso-occlusive crisis present
pain and swelling in the hands and feet
can affect the chest, back or other areas
fever
can causing priapism in men
43
what is splenic sequestration crisis
caused by red blood cells blocking blood flow within the spleen. It causes an acutely enlarged and painful spleen
blood pooling in the spleen can lead to severe anaemia and hypovolaemic shock
44
what is the management of splenic sequestration crisis
considered an emergency
management is supportive with blood transfusions, and fluid resuscitation to treat anaemia and shock
45
what can splenic sequestration crisis lead to
splenic infarction - leads to hyposplenism and susceptibility to infections particularly to encapsulated bacteria (strep. pneumoniae and Haem. influenzae
46
what can be done to prevent sequestration crises
splenectomy - used in recurrent cases
47
what is aplastic crisis
it is a temporary absence in the creation of new red blood cells in sickle cell
48
what can trigger aplastic crisis in sickle cell disease
parvovirus B19
49
what are affects of aplastic crisis
significant anaemia
50
what is the treatment of aplastic crisis
blood transfusions
supportive management
51
how long does it take aplastic crisis to resolve
usually resolves spontaneously within a week
52
what is acute chest syndrome
this is when vessels supplying the lungs become clogged with red blood cells
53
what can trigger an acute chest syndrome
vaso-occlusive crisis
fat embolism
infection
54
how does acute chest syndrome present
presents with fever
shortness of breath
chest pain
cough
hypoxia
55
what will a chest Xray show in acute chest syndrome
pulmonary infiltrates
56
how is acute chest syndrome managed
medical emergency
analgesia
good hydration - IV fluids
antibiotics or antivirals for infection
blood transfusions
incentive spirometry using a machine that encourages effective and deep breathing
respiratory support with oxygen, non invasive ventilation or mechanical ventilation
57
what is the general management for sickle cell disease
specialist MDT
avoid triggers or crisis such as dehydration
up to date vaccines
antibiotic prophylaxis typically with penicillin V
hydroxycarbamide - stimulates HbF
crizanlizumab
blood transfusions
bone marrow transplant
58
how does hydroxycarbamide work
works by stimulating the production of fetal haemoglobin which doesnt lead to sickling of red blood cells
- reduces frequency of vaso-occlusive crises improves anaemia and may extend lifespan
59
what is crizanlizumab
it is a monoclonal antibody that targets P-selectin
P-selectin is an adhesion molecule found on endothelial cells on the inside walls of blood vessels and platelets
it prevents red blood cells from sticking to the blood vessel wall
60
what is thalassaemia
it is a genetic defect in the protein chains that make up haemoglobin
- defects in the alpha globin chains leads to alpha thalasaemia
- defects in the beta globin chains leads to beta thalassaemia
61
what is the inheritance pattern of thalassaemia
autosomal recessive
62
why does thalassaemia cause splenomegaly
because in thalassaemia the red blood cells are more fragile and broken down easier, the spleen filters and removes the broken down red blood cells at a more rapid rate leading the splenomegaly
63
why does thalassaemia lead to prominent features such as a pronounced forehead and cheekbones
because the bone marrow expands to produce extra red blood cells to compensate for the chronic anaemia
this causes susceptibility to fractures and prominent features
64
what are potential signs and symptoms of thalassaemia
microcytic anaemia
fatigue
pallor
jaundice
gallstones
splenomegaly
poor growth and development
pronounced forehead and malar eminences
65
how is thalassaemia diagnosed
full blood count shows microcytic anaemia
haemoglobin electrophoresis is used to diagnose globin abnormalities
DNA testing
pregnant women in the UK are offered a screening test for thalassaemia at booking
66
why does iron overload happen in thalassaemia
it happens as a result of the faulty creation of ref blood cells, recurrent transfusions and increased absorption of irion in the gut in response to anaemia
67
how is iron overload managed in thalassaemia
patients have serum ferritin levels monitored to check for iron overload
limiting of transfusions
performing iron chelation
68
what are the symptoms of iron overload in thalassaemia
fatigue
liver cirrhosis
infertility
impotence
heart failure
arthritis
diabetes
osteoporosis and joint pain
69
what is the chromosomal abnormality in alpha thalassaemia
mutation on chromosome 16
70
what is the management of alpha thalassaemia
monitoring of full blood count
monitoring of complications
blood transfusions
splenectomy may be performed
bone marrow transplant may be curative
71
what is the genetic defect in beta thalassaemia
caused by mutation on chromosome 11
72
what are the different types of beta thalassemia
thalassaemia minor
thalassaemia intermedia
thalassaemia major
73
what is thalassaemia minor
this is when patients are carriers of an abnomally functioning beta globin gene
- one normal one abnormal
- causes a mind microcytic anaemia
74
what is thalassaemia intermedia
patients have two abnormal copies of the beta globin gene which can be either two defective or one defective and one deletion
- causes more significant microcytic anaemia
- require monitoring and some transfusions
- may require iron chelation
75
what is thaassaemia major
homozygous for the deletion genes meaning they have no functioning beta globin genes at all
the most severe form usually presents with severe aneamia and failure to thrive in early childhood
76
what are complications of thalassemia major
severe microcytic anaemia
splenomegaly
bone deformities
77
what is the management of thalassaemia major
regular transfusions
iron chelation
splenectomy
bine marrow transplant
78
what is hereditary spherocytosis
a condition where the red blood cells are sphere shaped making them fragile and easily destroyed when passing through the spleen
79
what is the inheritance pattern of hereditary spherocytosis
autosomal dominant
80
how does hereditary spherocytosis present
jaundice
anaemia
gallstones
splenomegaly
episodes of haemolytic crisis
aplastic crisis
81
what can cause haemlytic crisis in hereditary spherocytosis
infections
82
what can cause aplastic crisis in hereditary spherocytosis
infection with parvovirus
- presents with anaemia, haemolysis and jaundice
83
how is hereditary spherocytosis diagnosed
family history
clinical features
spherocytes on blood film
MCHC will be raised
reticulocytes will be raised
84
what is the management if hereditary spherocytosis
folate supplementation
splenectomy
removal of the gallbladder may be required
transfusions during acute crisis
85
what is G6PD deficiency
it is a defect in the G6PD enzyme in cells which is responsible for protecting cells from ROS damage
86
what is the inheritance pattern of G6PD deficiency
X linked recessive
87
what are triggers of G6PD crisis
infections
medications
fava beans
88
what is the pathophysiology of G6PD deficiency
G6PD prevents cell damage due to ROS, which are reactive molecules produced during normal cell metabolism and in higher quantities during cell stress
G6PD enzyme is particularly important in red blood cells and a deficiency in G6PD makes cells more vulnerable to ROS leading to haemolysis of red blood cells
89
what is the presentation of G6PD
neonatal jaundice
anaemia
intermittent jaundice - in response to triggers
gall stones
splenomegaly
90
what can be seen on a blood film in G6PD deficiency
Heinz bodies - denatured haemoglobin seen within red blood cells
91
how is G6PD deficiency diagnosed
by doing a G6PD enzyme assay
92
what is the management of G6PD deficiency
people should avoid triggers where possible
93
what medications should be avoided in G6PD deficiency
primaquine
ciprofloxacin
nitrofurantoin
trimethoprim
sulfonylureas
sulfasalazine and other sulphonamide drugs
94
what is haemolytic disease of the newborn
due to incompatibility between mother and babies resus group or ABO group causing the babies red blood cells to break up more quickly that usual
95
how does haemolytic disease of the newborn occur
when a small amount of babies blood is exposed to the mothers blood circulation during pregnancy, the mother produces antibodies to the babies blood. these antibodies are able to cross the placenta and enter the babies circulation causing red cell haemolysis
96
how is haemolytic disease of the newborn diagnosed
direct antibody test - DAT
either on the cord blood or directly on babies blood
97
what are signs of haemolytic disease of the newborn in babies
high bilirubin levels causing jaundice
anaemia
respiratory distress
lethargy
increased effort of breathing
breathlessness
98
how is haemolytic disease of the newborn treated
jaundice - phototherapy
blood transfusions
folic acid
monitoring of baby - follow up clinic checking babies haemoglobin levels
99
what is fanconi anaemia
inherited disease caused by mutations in the FA genes (23 different genes) causing bone marrow failure, where the bone marrow doesnt create healthy blood cells and platelets
100
how many children born with fanconi anaemia have physical abnormalities
about 75%
101
how many people with fanconi anaemia have bone marrow failure or lack of function
about 90%
102
how many people with fanconi anaemia develop certain cancers such as leukaemia
between 10-30%
103
what are common cancers people with fanconi anaemia develop
acute myeloid leukaemia
skin cancer
cancer of the head and neck
104
what are common fanconi anaemia symptoms
anaemia - fatigue, pallor, work of breathing, tachycardia, headaches
bone marrow failure - increased infections, excessive bleeding
cancer - common cancer sx
physical abnormalities
105
what physical abnormalities are common in people with fanconi anaemia
odd shaped thumbs - two on one hand or none
microcephaly
hydrocephaly
hearing loss or difficulty
skin that has large light brown coloured patches called cafe-au-lait spots
scoliosis
106
how is fanconi anaemia diagnosed
physical abnormalities
progressive bone marrow failure
cancer
bloods - complete blood count, reticulocyte count, basic metabolic panel
bone marrow biopsy
MRI
ultrasound
107
by what age do most children with fanconi anaemia develop bone marrow failure symptoms
10
108
what genetic tests may be used to diagnose fanconi anaemia
chromosome breakage test
genetic screening
in pregnancy may perform amniocentesis and chorionic villus sampling
109
what is the management for fanconi anaemia
bone marrow transplant
androgen therapy - helps stimulate your red blood cell production
synthetic growth factors - stimulates bone marrow
surgery - correct physical abnormalities or repair damaged organs
110
what causes haemophilia A
deficiency of factor 8
111
what causes haemophilia B
deficiency in factor 9
112
what is the inheritance pattern of haemophilia
both are X linked recessive diseases
113
what are the features of haemophilia A/B
bleeding excessively in response to minor trauma
spontaneous bleeding without any trauma
in neonates can present with intercranial haemorrhage, haematomas and cord bleeding
haemarthrosis - ankle, knee, elbow
compartment syndrome
bleeding into the oral mucosa
epistaxis
GI bleeding
haematuria
114
how is haemophilia diagnosed
bleeding scores
coagulation factor assays
genetic testing
115
what is the management of haemophilia
IV replacement of affected clotting factors
- need to monitor this as there can be formation of antibodies against treatment
116
what is von willebrand disease
bleeding disorder that keeps blood from clotting
117
what are symptoms of von willebrand disease
epistaxis
prolonged bleeding from minor injury
unexplained bruising
iron deficiency anaemia
post surgical bleeding
heavy menstrual bleeding
post partum haemorrhage
blood in stool haematuria
118
what causes von willebrand disease
deficiency of the pro-von willebrand factor which is a part of haemostasis
119
what is the pathophysiology of von willebrand disease
normally pro-vWF undergoes cleavage and the propeptide and mature von willebrand factor are secreted into the lumen
it functions as a carrier for factor 8 to maintain its levels and help in platelet adhesion and binding to endothelial components post injury
with a deficiency in von willebrand factor will lead to increased bleeding tendency
120
what are the types of von willebrand disease
type 1: autosomal dominant caused by a partial deficiency in von willebrand factor
type 2: autosomal dominant disease caused by a defect in von willebrand factor
type 3: autosomal recessive caused by a complete defect
121
how is von willebrand disease diagnosed
complete blood count
platelet aggregation tests
activated partial thromboplastin time test (APTT)
prothrombin time
fibrinogen test
von villebrand factor antigen
ristocetin cofactor - evaluates von willebrand factor activity
122
how is von willebrand disease treated
desmopressin - used to boost von willebrand levels
von willebrand factor infusions
antifibrinolytics
birth control pills - helps with menstrual bleeding
123
what is microcytic anaemia
this happens with red blood cells are smaller than usual because they dont have enough haemoglobin
124
what conditions can cause microcytic anaemia
iron deficiency
thalassaemia
sideroblastic anaemia
anaemia of chronic disease
lead poisoning
125
what are symptoms of microcytic anaemia
fatigue and dizziness
pallor
tachycardia
shortness of breath
dry skin
skin that bruises easily
126
how do healthcare providers diagnose microcytic anaemia
complete blood count
peripheral blood smear
reticulocyte count
127
what is the most common type of leukaemia in children
ALL
128
what can increase the chance of leukaemia in childhood
inherited disorders such as Li-fraumeni syndrome, down syndrome, klinefelter
inherited immune system issues
first generation family member with leukaemia
history of exposure to high levels of radiation, chemotherapy or chemicals
history of immune system suppression
129
what are the types of childhood leukaemia
ALL - most common
AML - second most common
hybrid/mixed leukaemia
CML - rare in children
CLL - very rare in children
juvenile myelomonocytic leukaemia
130
what are symptoms of leukaemia in children
fatigue
pallor
easy bruising or bleeding
extreme fatigue or weakness
shortness of breath
coughing
bone swelling or pain
swelling in the abdomen, face, arms, groin etc
swelling above collarbone
loss of appetite or weight loss
headaches, seizures
vomiting
rashes
gum recession
131
how do you diagnose leukaemia
bloods - look at cell counts
bone marrow aspiration and biopsy
lumbar puncture
blood smear
132
how is leukaemia treated in children
antibiotics if the child has any infections, blood transfusions
chemotherapy
targeted therapy - monoclonal antibodies
stem cell transplant
CAR-T
133
what are the most common solid tumours affecting children and adolescents
brain tumours
134
what are symptoms of brain tumours in children
signs of increased intercranial pressure
- headaches
- seizures
- nausea and vomiting
- irritability
- lethargy and drowsiness
- personality and mental activity changes
- brain tissue dysfunction depending on where the tumour is located
- macrocephaly in infants whos skull bones havent fully fused yet
- coma and death if left untreated
135
how are brain tumours diagnosed in children
child experiencing brain tumour symptoms should be thoroughly evaluated by a paediatrician, paediatric neurologist
MRI
biopsy
136
what are the types of brain tumours in children
primary
metastatic
benign
malignant
137
what cancer accounts for about half a=of all childhood brain tumours
astrocytomas - most common in children between 5-8
138
what are astrocytomas
they are tumours which develop from glial cells called astrocytes
139
what are the four main types of astrocytomas in children
pilocytic astrocytoma (grade 1): slow growing, most common, Often cystic
diffuse astrocytoma (grade 2): infiltrates surrounding brain tissue making complete removal more difficult
anaplastic astrocytoma (grade 3): malignant
glioblastoma multiforme (grade 4): most malignant, grows rapidly and causes pressure
140
what are other paediatric brain tumours
brain stem gliomas
choroid plexus tumours
craniopharyngiomas - benign near pituitary
ependymomas - brain and spinal cord in CSF
germ cell tumours
medulloblastomas - form in cerebellum, account for 15% of brain tumours in children
optic nerve gliomas
141
what is the treatment for paediatric brain tumours
surgery - biopsy and removal
follow up care post surgery - physio, SALT
radiation therapy
chemotherapy
142
what are signs of brain tumours in children
pronounced or swollen fontanelle in babies
changes in eye movement
confusion and irritability
balance issues
hearing issues
seizures
slurring of speech
walking issues
swallowing issues
weakness or drooping of one side of the face
weakness or sensation change in arm or leg
143
what are risk factors for pardiatric brain tumours
younger age - younger than 5
exposure to radiation
weakened immune system
genetic syndromes that run in the family - neurofibromatosis 1 and 2, tuberous sclerosis, gorlin syndrome, turcot syndrome, cowden syndrome
144
what is Wilms tumour
it is a specific type of tumour affecting the kidney in children, typically under the age of 5
145
how does Wilms tumour present
mass in the abdomen
abdominal pain
haematuria
lethargy
fever
hypertension
weight loss
146
how is wilms tumour diagnosed
ultrasound of the abdomen to visualise the kidneys
CT or MRI can be used to stage the tumour
biopsy to identify the histology
147
how is Wilms tumour managed
surgical excision of the tumour along with the affected kidney - nephrectomy
adjuvant treatment - chemotherapy and radiotherapy
148
what is neuroblastoma
it is a cancer that develops from immature nerve cells - commonly arise in and around the adrenal glands, however they can also develop in other areas of the abdomen and in the chest, neck and near the spine
149
what age group do neuroblastomas commonly affect
children 5 or under
150
what are symptoms of neuroblastoma in the abdomen
abdominal pain
a mass under the skin which isnt tender
changes in bowel habits such as diarrhoea and constipation
151
what are symptoms of neuroblastoma in the chest
wheeze
chest pain
changes in the eyes - ptosis and unequal pupil size
152
what are non specific signs of neuroblastoma
lumps of tissue under the skin
eyeballs that seem to protrude from the sockets - proptosis
dark circles similar to bruises around the eyes
back pain
fever
unexplained weight loss
bone pain
153
what is the cause of neurofibromas
mutation in neuroblasts (immature nerve cells) causing a neuroblastoma
154
what are complications of neuroblastomas
metastasis of the disease
spinal cord compression
signs and symptoms caused by tumour secretions - paraneoplastic syndrome
155
how is neuroblastoma diagnosed
physical examination and history
urine and blood tests
imaging tests - X ray, CT, ultrasound, MRI
biopsy
bone marrow aspiration
156
how is neuroblastoma staged
using CT/MRI (can also be done with other imaging tests)
stages range from 0-IV
157
how is neuroblastoma treated
surgery
chemotherapy
radiation therapy
bone marrow transplant - autologous
immunotherapy
MIBG radiation therapy
158
what is retinoblastoma
eye cancer that starts off as a growth of the cells in the retina
159
what are symptoms of retinoblastoma
white colour in the centre of the eye when light is shone in the eye
eye redness
eye swelling
eyes that seem to be looking in different directions
vision loss
160
what are risk factors for developing retinoblastoma
young age - typically diagnosed by 2
DNA mutations that run in families - tend to get retinoblastoma younger and tend to get it in both eyes
161
what are complications of retinoblastoma
cancer returns - need good follow up
increased risk of other cancers - bone, bladder, breast, hodgkin, lung, melanoma, pineoblastoma, soft tissue sarcoma
162
can retinoblastoma be prevented
no but in those with an increased risk care can be planned to manage risk
- eye exams from birth
- regular screening
163
how is retinoblastoma diagnosed
eye exam - testing vision and using an ophthalmoscope to look inside the eye
imaging tests - ultrasound and MRI
genetic testing - look at the RB1 gene
164
how is retinoblastoma treated
chemotherapy - whole body, into an artery near the eye or injected into the eye
cryotherapy
laser therapy - transpupillary thermotherapy
radiation
surgery to remove the eye
165
what is hepatoblastoma
it is a rare tumour that originates in cells in the liver. It is the most common cancerous liver tumour in early childhood (around 5)
166
what is the most common side for hepatoblastoma metastasis
lungs
167
what group of children in hepatoblastoma the most common in
caucasian
boys
under 5
in children who were born very prematurely with low birth weight
168
what genetic conditions are associated with hepatoblastoma
Beckwith-wiedemann syndrome - Wilms, kidney failure, genitourinary malformations and gonad abnormalities
familial adenomatous polyposis
hemihypertrophy - where one limb on one side grows faster than on the other
169
what are signs and symptoms of hepatoblastoma
A large mass in the abdomen
Swollen abdomen
Weight loss
Decreased appetite
Vomiting
Jaundice (yellowing of eyes and skin)
Itchy skin
Anemia
Back pain
170
how is hepatoblastoma diagnosed
Alpha-fetoprotein test
CT or CAT scan
MRI
bloods - evaluate liver function
biopsy
bone scan
171
how is hepatoblastoma treated
resection of the tumour
chemotherapy prior to surgery
continuous follow up care
172
what is the most common type of bone cancer in children
osteosarcoma
173
where do osteosarcomas occur most commonly
bones on either side of the knee (tibia or femur)
upper arm
174
what age group is osteosarcoma most common in
2/3 of cases occur between the ages of 10-14
male excess emerges at around 15-16
175
what is the survival rate of osteosarcoma
65% of children will survive of 5 years or more after the diagnosis
patients with localised disease have a higher survival rate at 60-78% (much lover in metastatic disease)
176
what are the symptoms of osteosarcoma
bone pain - may come and go initially and then becomes persistent (unresponsive to NSAIDS)
pain that is worse at night
tenderness
redness
swelling
pathological fractures
palpation may reveal soft tissue mass
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how is osteosarcoma diagnosed
initial X ray
referral to oncologist
biopsy
bloods
scans - bone scan, CT, MRI
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what is the staging system of osteosarcoma
staged 1A, B, 2A, B or 3 depending on size, whether the tumour has spread from the starting site
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how is osteosarcoma treated
chemotherapy before and after therapy
radiotherapy
surgery - amputation, or limb sparing dependent on size and where it is
biological therapy - mifamurtide
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what are the short term side effects of treatment for osteosarcoma
pain
tenderness
nausea
vomiting
infections
hair loss
bruising
tenderness
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what are the long term side effects of treatment for osteosarcoma
abnormal bone growth
heart or lung effects
infertility
increased risk of developing another cancer
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what are different types of paediatric bone tumours
osteosarcoma
ewing sarcoma
nonossifying fibroma
osteochondroma
langerhans cell histiocytosis
unicameral bone cyst
aneurysmal bone cyst
osteoid osteoma
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what is Ewing sarcoma
second most common bone cancer in children and mainly affects the legs, pelvis, arms and ribs
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what are the different types of Ewings sarcoma
it is a group of 4 different types of cancer
- ewing sarcoma of the bone
- extraosseous ewing sarcoma (soft tissue round bone)
- peripheral primitive neuroectodermal tumour
- askin tumour (chest wall)
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what age group is Ewings sarcoma most common in
is it more common in males or females
10-14 yrs
more common in boys
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what are the symptoms of Ewing sarcoma
bone pain - initially comes and goes and then becomes persistent
tenderness
redness
swelling
pathological fractures
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what genetic disorders are sarcomas associated with
Li-Fraumeni syndrome (familial mutation of P53)
patients cured of familial retinoblastoma
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where does osteosarcoma commonly metastasise to
lung
bones
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how is Ewing sarcoma diagnosed
X ray
biopsy
lactate dehydrogenase and alkaline phosphatase
MRI
CT chest
isotope bone scan
bone marrow aspirates
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how is Ewing sarcoma managed
chemotherapy followed by surgery followed by chemotherapy
limb preserving therapy were possible
radiotherapy as an adjuvant
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what is an adverse outlook with Ewings sarcoma associated with
large primaries
axial sites
poor response to chemotherapy
metastatic disease
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what is rhabdomyosarcoma
it is the most common soft tissue sarcoma in childhood
- most are either embryonic or alveolar
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what are the presenting features of rhabdomyosarcoma
mass, pain and obstruction of:
bladder
pelvis
nasopharynx
parameningeal
paratestis
extremity
orbit
intrathoracic
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how is rhabdomyosarcoma diagnosed and staged
imaging of the primary site: CT or MRI
biopsy
CT scan of the chest
bone marrow aspirates
isotope bone scan
lumbar puncture
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what is the treatment for rhabdomyosarcoma
chemotherapy - 6-9 courses
surgery reserved for accessible sites after 3-6 courses of chemotherapy
radiotherapy after surgery
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what is the definition of atopy
predisposition to having hypersensitivity reactions to allergens
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what is the skin sensitisation theory regarding allergies
1. break in the infants skin (eczema or skin infection) that allows allergens to cross the skin and react with the immune system
2. the child doesn't have contact with the allergen from the GI tract and there is an absence of GI exposure to the allergen
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what is a type 1 hypersensitivity reaction
IgE antibodies to a specific allergen trigger mast cell and basophils to release histamines and other cytokines - immediate reaction
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what is a type 2 hypersensitivity reaction
IgG and IgM antibodies react to an allergen and activate the complement system leading to direct damage to the local cells.
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what is a type 3 sensitivity reaction
immune complexes accumulate and cause damage to local tissues
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what is a type 4 hypersentivity reaction
T lymphocyte mediated reaction where t cells are inappropriately activated causing local inflammation and damage
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what is an example of a type 2 hypersensitivity reaction
haemolytic disease of the newborn
transfusion reactions
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what is an example of a type 3 hypersensitivity reaction
SLE
rheumatoid arthritis
Henoch-Scholein purpura
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what is an example of a type 4 hypersensitivity reaction
organ transplant rejection
contact dermatitis
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what are three main ways to test for allergy
skin prick testing
RAST testing - blood tests for total and specific IgE antibodies
food challenge testing - gold standard
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how will anaphylaxis present
urticaria
itching
angio-oedema
abdominal pain
SOB
wheeze
swelling of larynx
tachycardia
lightheadedness
collapse
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what blood test can be done to confirm anaphylaxis
serum mast cell tryptase within 6 hours of the event
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what is allergic rhinitis
it is a condition caused by IgE mediated type 1 hypersensitivity reaction, due to environmental allergens causing an allergic inflammatory response in the nasal mucosa
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how does allergic rhinitis present
runny, blocked and itchy nose
sneezing
itchy, red and swollen eyes
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how is allergic rhinitis diagnosed
history
skin prick testing
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what are some triggers for allergic rhinitis
tree pollen or grass
house dust mites
pets
mould
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what advice would you give to a parent of a child suffering with allergic rhinitis to help ease the symptoms
avoid trigger - hoover, change pillows, good ventilation, staying inside with high pollen count, showering after youve been outside
minimise contact with pets which are a known trigger
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How is allergic rhinitis treated
oral antihistamines - taken prior to allergen exposure
- non sedating: cetirizine, loratadine, fexofenadine
- sedating - chlorphenamine and promethazine
nasal corticosteroid sprays - fluticasone
nasal antihistamines
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what is cows milk protein allergy
it is a condition typically affecting infants under 3, involving hypersensitivity to the protein in cows milk
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what are the two types of cows milk protein allergy
IgE mediated - rapid reaction occurring within 2 hours of ingestion
non IgE mediated - reactions occurring slowly over several days
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how does cows milk protein allergy present
bloating and wind
abdominal pain
diarrhoea
vomiting
urticarial rash
angio-oedema
cough or wheeze
sneezing
watery eyes
eczema
rarely in severe cases anaphylaxis can occur
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how is cows milk protein allergy diagnosed
full history and examination
skin prick testing can help support the diagnosis
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how is cows milk protein allergy managed
avoiding cows milk:
breast feeding mothers should avoid dairy products
replace formula with special hydrolysed formulas
every 6 months or so infants are tried on the first step of the 'milk ladder' and slowly progress up to gradually progress towards a diet containing milk
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what is hydrolysed cows milk formula
Hydrolysed formulas contain cow’s milk, however the proteins have been broken down so that they no longer trigger an immune response.
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what is the difference between cows milk intolerance and cows milk allergy
intolerance will present with similar GI symptoms as cows milk allergy however it does not give the allergic features
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how is cows milk intolerance managed
they can be fed with breast milk, hydrolysed formular and weaned to foods not containing cow milk
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what features would make you refer a child with recurrent infections to a specialist for further investigations
chronic diarrhoea since infancy
failure to thrive
appearing unusually well for quite a severe infection
significantly more infections than expected particularly bacterial lower respiratory tract infections
unusual of persistent infections such as CMV, candida and pneumocystis jiroveci
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what investigations should be done in a child referred with recurrent infections
full blood count
immunoglobulins - b cell disorders
complement proteins
antibody responses to vaccines specifically pneumococcal and haemophilus vaccines
HIV test if clinically relevant
Chest Xray
sweat test
CT chest
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what is severe combined immunodeficiency (SCID)
most severe condition causing immunodeficiency, with children with SCID having almost no immunity to infections, due to a lack of or dysfunctioning of T and B cells
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how does SCID present
persistent severe diarrhoea
failure to thrive
opportunistic infections that are more frequent or severe than in healthy children
unwell after live vaccines such as BCG, MMR
Omenn syndrome
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what are causes of SCID
over 50% caused by mutations in the common gamma chain on the X chromosome which codes for interleukin receptors on T and B cells
- other mutations that can cause SCID are JAC3 mutations and mutations leading to adenosine deaminase deficiency
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what is omenn syndrome
it is a rare cause of SCID as a result of a mutation in the recombination-activating gene that codes for important proteins in T and B cells
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what are the features of Omenn syndrome
red scaly dry scalp
hair loss
diarrhoea
failure to thrive
lymphadenopathy
hepatosplenomegaly
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what causes the features of omenn syndrome
caused by the abnormally functioning and dysregulated T cells attacking the tissues i the fetus or neonate
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how is SCID treated
it is fatal unless treated
MTD approach
treat underlying infections
immunoglobulin therapy
sterile environment to minimise risk of new infections
avoid live vaccines
haematopoietic stem cell transplantation
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what is hypogammaglobulinemia
a deficiency in immunoglobulins
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what is the most common immunoglobulin deficiency
selective immunoglobulin A deficiency
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what is selective immunoglobulin A deficiency
where patients have low levels of IgA and normal levels of IgG and IgM
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what other condition are you likely to come across IgA deficiency
in coeliac disease
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what is common variable immunodeficiency
a deficiency in IgG and IgA with or without a deficiency in IgM, due to a genetic mutation in the genes coding for components of B cells
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what is the management of common variable immunodeficiency
regular immunoglobulin infusions
treating infections and complications as they occur
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what are symptoms of common variable immunodeficiency
recurrent respiratory tract infections
chronic lung disease
unable to develop immunity to infections or vaccinations
prone to immune disorders such as RA
prone to cancers such as non-Hodgkins lymphoma
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what is X linked agammaglobulinaemia
it is an X linked recessive condition that results in abnormal B cell development and deficiency in all classes of immunoglobulins
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what is DiGeorge syndrome
condition caused by a microdeletion on chromosome 22 resulting in a developmental defect in the third pharyngeal pouch and third brachial cleft
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what is one of the consequences of incomplete development in DiGeorge syndrome
an incomplete thymus gland resulting in the inability to create functional T cells
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what are the features of DiGeorge syndrome
CATCH-22
congenital heart disease
abnormal facies (characteristic facial appearance)
thymus gland incompletely developed
cleft palate
hypothyroidism and resulting hypocalcaemia
22 chromosome affected
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what is purine nucleoside phosphorylase deficiency
autosomal recessive condition where there is a deficiency in PNPase leading to a metabolite called dGTP builds up, which is toxic to T cells resulting in low levels of T lymphocytes
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what is the role of PNPase
it is an enzyme which helps to break down purines
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what is the presentation of purine nucleoside phosphorylase deficiency
immunity to infection gradually gets worse
increasingly susceptible to infections particularly viruses and live vaccines
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what is Wiskott-aldrich syndrome
it is an X linked condition with a mutation on the WAS gene causing abnormally functioning T cells
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what are features of Wiskott-aldrich syndrome
thrombocytopenia
immunodeficiency
neutropenia
eczema
recurrent infections
chronic bloody diarrhoea
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what is ataxic telangiectasia
an autosomal recessive condition affecting the genes coding for the ATM serine/threonine kinase protein on chromosome 11, required for several functions in DNA coding
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what are features of ataxic telangiectasia
low numbers of T cells and immunoglobulins, causing immunodeficiency and recurrent infections
ataxia
telangiectasia particularly in the sclera and damaged areas of the skin
predisposition to cancers
slow growth and delayed puberty
accelerated aging
liver failure
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what is the microscopic appearance of osteosarcoma
Poorly formed trabecular bone is seen with (in the typical high-grade conventional subtype) cellular pleomorphism and mitoses. Variable amounts of fibrocystic and chondroblastic appearing cells may also be encountered.
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what is seen on an X ray in osteosarcoma
medullary and cortical bone destruction
wide zone of transition, permeative or moth eaten appearance
sunburst look
soft tissue mass
fluffy or cloud like
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what is seen on Xray in Ewing sarcoma
large with wide zone or transition or poorly defined margins
80% extend into adjacent soft tissue
lamellated/onion skin appearance
sclerosis
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what type of organisms are complement proteins important in dealing with
encapsulated organisms
- haemophilus influenza B
- streptococcus pneumonia
- neisseria meningitidis
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