B PAEDS PART 2 TO DO Flashcards
1
Q
MENINGITIS
What are the most common causes of bacterial meningitis?
A
- Neonates = GBS or listeria monocytogenes
- 1m–6y = N. meningitidis (gram -ve diplococci), S. pneumoniae (gram + ve cocci chain), H. influenzae
- > 6y = meningococcus + pneumococcus, rarely TB
2
Q
MENINGITIS
What is the management of bacterial meningitis?
A
- Supportive = correct shock with fluids, oxygen if needed
- <3m = IV cefotaxime + amoxicillin (cover listeria from ?pregnancy)
- > 3m = IV ceftriaxone + IV dexamethasone to reduce frequency + severity of hearing loss + neuro damage (NOT before 3m)
3
Q
MENINGITIS
What are the drawbacks with giving ciprofloxacin to a close contact?
A
- Do not give in myasthenia gravis or previous sensitivity,
- can cause tendinitis
- can trigger seizures
4
Q
SEPTICAEMIA
What are the causes of septicaemia?
A
- Most common = N. meningitidis
- Neonates = GBS or gram -ve organisms from birth canal
5
Q
MEASLES
What are some important complications of measles?
A
- Otitis media (commonest complication)
- Pneumonia (commonest cause of death)
- Diarrhoea
- Febrile convulsions, encephalitis
- Subacute sclerosing panencephalitis rare where 5-10y after primary measles > loss of neuro function, dementia + death
6
Q
RUBELLA
What are some complications of rubella?
How can it be reduced?
A
- Rare but > encephalitis, arthritis, myocarditis + thrombocytopenia
- Congenital rubella syndrome > cataracts, CHD + sensorineural deafness
- Avoid pregnant women, school exclusion 4d from rash, ensure vaccinated
7
Q
MUMPS
What are some complications of mumps?
A
- Viral meningitis + encephalitis
- Orchitis (usually unilateral, may reduce sperm count + lead to infertility)
- Pancreatitis
8
Q
SLAPPED CHEEK
What are some complications of slapped cheek syndrome?
A
- Aplastic crisis (most serious) more common in chronic haemolytic anaemias like sickle cell, thalassaemia + in immunocompromised
- Vertical transmission can lead to foetal hydrops + death due to severe anaemia
9
Q
IMPETIGO
What is the management of impetigo?
A
- Swab vesicles, avoid sharing towels, cutlery, try not to scratch
- Hydrogen peroxide 1% cream (or mupirocin)
- PO flucloxacillin if severe + systemically unwell
- School exclusion until lesions crusted + healed or 48h after Abx
10
Q
STAPH SCALDED SKIN
What is the management of SSSS?
A
- Most need admission for IV flucloxacillin, fluid balance + analgesia
11
Q
TOXIC SHOCK SYNDROME
Give some examples of multi-organ dysfunction in toxic shock syndrome
A
- GI = D+V
- CNS = confusion
- Thrombocytopenia
- Renal failure
- Hepatitis
- Clotting abnormalities
12
Q
HIV
When should HIV be suspected?
A
- Persistent lymphadenopathy
- Hepatosplenomegaly
- Recurrent fever
- Parotitis
- Serious, persistent, unusual, recurrent (SPUR) infections
13
Q
HIV
How is HIV investigated?
A
- <18m cannot use antibody (transplacental HIV IgG if exposed anyway)
- 2x HIV DNA PCR blood test (double negative to exclude) for viral load
– Within first 3m + at least 2w after completion of postnatal antiretroviral
14
Q
HIV
How should HIV be managed?
A
- Antiretrovirals based on viral load + CD4 count
- Co-trimoxazole prophylaxis (PCP)
- ?Additional vaccines but not BCG as live
- Regular follow up, check development, psychological support
- Safe sex education when older
15
Q
TUBERCULOSIS
What is the pathophysiology of tuberculosis (TB)?
A
- Lung lesion + (mediastinal) lymph nodes = Ghon or primary complex
- Primary infection > caseating granulomas followed by period of dormancy with ?reactivation (secondary TB)
- If immune system unable to cope it disseminates > miliary TB
16
Q
TUBERCULOSIS
What are some investigations for TB?
A
- Mantoux ‘tuberculin’ test
- Interferon gamma release assays
- 3x samples of sputum MC&S = gold standard
- CXR
17
Q
TUBERCULOSIS
What are some complications of TB?
A
- Pleural + pericardial effusions
- Lung collapse
- Lung consolidation
18
Q
VACCINATIONS
What vaccines are attenuated?
A
- MMR, BCG, nasal flu, rotavirus + Men B
19
Q
VACCINATIONS
What vaccines are given at…
i) 2m?
ii) 3m?
iii) 4m?
A
i) 6-in-one, rotavirus + men B
ii) 6-in-one, rotavirus + PCV
iii) 6-in-one, men B
20
Q
VACCINATIONS
What vaccines are given at…
i) 1y?
ii) 3y + 4m?
iii) 12-13y?
iv) 14y?
A
i) Men B, PCV, Hib/Men C + MMR
ii) MMR, 4-in-one preschool booster (diptheria, tetanus, whooping cough + polio)
iii) HPV
iv) men ACWY, 3-in-1 teenage booster (diptheria, tetanus + polio)
21
Q
ALLERGY
What is an allergy?
Give examples
A
- Hypersensitivity reaction initiated by specific immunoglobulins
- Food allergy, eczema, allergic rhinitis, asthma, urticaria, insect sting, drugs, latex + anaphylaxis
22
Q
ALLERGY
Define hypersensitivity
A
Objectively reproducible symptoms/signs following a defined stimulus at a dose tolerated by a normal person
23
Q
ALLERGY
What is the Gell and Coombs hypersensitivity classification?
A
- Type 1 = IgE trigger mast cells + basophils to release histamines + cytokines
- Type 2 = IgG/M bind to cell-surface antigens which is a host cell but activates immune system as considers foreign > cytotoxic
- Type 3 = immune complex mediated with activation of complement/IgG
- Type 4 = T-cell mediated delayed type hypersensitivity
24
Q
ALLERGY
Give an example of a type 1hypersensitivity reaction
A
- acute anaphylaxis,
- hayfever
25
ALLERGIC RHINITIS
What are the different types of antihistamines that can be taken for allergic rhinitis?
- Non-sedating = cetirizine, loratadine
- Sedating = chlorphenamine (Piriton) + promethazine
- Nasal may be good option for rapid onset Sx in response to trigger
26
ANAPHYLAXIS
What investigation confirms anaphylaxis?
- Serum mast cell tryptase within 6h of event = mast cell degranulation
27
IMMUNE DEFICIENCY
What are the 6 types of immune deficiency?
- T-cell defects
- B-cell defects
- Combined B- + T-cell defects
- Neutrophil defect
- Leucocyte function defect
- Complement defects
28
IMMUNE DEFICIENCY
What are T-cell defects?
- Severe/unusual viral + fungal infections + failure to thrive in first 2m
29
IMMUNE DEFICIENCY
What are B-cell defects?
Give some examples
- Present beyond infancy as passively acquired maternal antibodies, severe bacterial infections, esp. (lower) RTIs.
- Selective IgA deficiency (#1)
- X-linked (Bruton) agammaglobulinaemia
- Common variable immune deficiency
30
IMMUNE DEFICIENCY
Give some examples of combined B- and T-cell disorders
- Severe combined immunodeficiency = group of inherited disorders of profound defective cellular + humoral immunity
- Hyper IgM syndrome = B cells produce IgM but prevented from IgG/A
31
IMMUNE DEFICIENCY
What do neutrophil defects lead to?
Give an example
- Recurrent bacterial infections
- Chronic granulomatous disease = X-linked recessive, defect in phagocytosis as fail to produce superoxide after ingestion
32
IMMUNE DEFICIENCY
What are leucocyte function defects?
Give an example
- Delayed separation of umbilical cord, wound healing, chronic skin ulcers
- Leucocyte adhesion deficiency = deficiency of neutrophil surface adhesion molecules so inability to migrate to sites of infection
33
IMMUNE DEFICIENCY
What are complement defects?
Examples
- Recurrent bacterial infections (meningococcal, HiB, pneumococcus), SLE-like illness
- Hereditary angioedema (measure C4 levels)
- Mannose-binding lectin deficiency
34
IMMUNE DEFICIENCY
What are some investigations for immune deficiency?
- FBC (WCC, lymphocytes, neutrophils)
- Blood film
- Complement
- Immunoglobulins
35
IMMUNE DEFICIENCY
What prophylaxis should be given in immune deficiency?
- T-cell + neutrophil = co-trimoxazole for PCP, fluconazole for fungal
- B-cell = azithromycin for recurrent bacterial infections
36
IMMUNE DEFICIENCY
What is the management of immune deficiency?
- Prompt, appropriate + longer Abx courses
- Screen for end-organ disease (CT scan)
- Ig replacement therapy if antibody deficient
- Bone marrow transplantation for SCID, chronic granulomatous disease
37
WHOOPING COUGH
What are some complications of pertussis?
- Pneumonia
- Convulsions
- Bronchiectasis
38
POLIO
what is the clinical presentation?
90-95% of cases are asymptomatic
fatigue
fever
nausea and vomiting
diarrhoea
sore throat
headache
photophobia
39
POLIO
what are the clinical features of a more serious polio infection?
acute flaccid paralysis (AFP)
- initially fatigue, fever N+V
- asymmetrical lower limb weakness and flaccidity
can progress to life-threatening bulbar paralysis and respiratory compromise
40
POLIO
what are the investigations?
- virus culture from stool, CSF or pharynx
- CSF analysis
- serum antibodies to poliovirus
- MRI of spinal cord
- EMG of affected limb(s)
41
DIPHTHERIA
what is the cause?
Corynebacterium diphtheriae
42
DIPHTHERIA
what is the management?
- hospitalisation, isolation
- diphtheria anti-toxin
- antibiotic (procaine benzylpenicillin)
43
DIPHTHERIA
what is the management for close-contacts?
prophylactic antibiotics - erythromycin
diphtheria toxoid immunisation
44
GLANDULAR FEVER
What are the complications of glandular fever?
- Splenic rupture,
- haemolytic anaemia,
- chronic fatigue,
- EBV associated with Burkitt's lymphoma
45
TUBERCULOSIS
When diagnosing TB, what would you see on CXR?
- Patchy consolidation,
- pleural effusions,
- hilar lymphadenopathy
46
ALLERGY
Define atopy
Personal/familial tendency to produce IgE in response to ordinary exposures to allergens (triad = eczema, asthma + rhinitis)
47
ALLERGY
Give an example of a type 2 hypersensitivity reaction
- autoimmune disease,
- haemolytic disease of newborn,
- transfusion reaction
48
ALLERGY
Give an example of a type 3 hypersensitivity reaction
- SLE,
- RA,
- HSP,
- post-strep glomerulonephritis
49
ALLERGY
Give an example for of a type 4 hypersensitivity reaction
- TB,
- contact dermatitis
50
IMMUNE DEFICIENCY
Give some examples of T-cell defects
- DiGeorge syndrome
- HIV
- Duncan syndrome (X-linked lymphoproliferative disease)
- Ataxic telangiectasia
- Wiskott-Aldrich
51
VACCINATIONS
Which vaccines are included in the 6-in-1 injection?
- diphtheria
- tetanus
- pertussis DTaP (whooping cough)
- polio IPV
- Haemophilus influenza B (HiB)
- Hepatitis B
52
SCHOOL EXCLUSION
what are the rules for scarlet fever?
24hrs after commencing antibiotics
53
SCHOOL EXCLUSION
what are the rules for measles?
4 days from onset of rash
54
SCHOOL EXCLUSION
what are the rules for whooping cough?
2 days after commencing antibiotics (or 21days from onset of symptoms if no antibiotics)
55
SCHOOL EXCLUSION
what are the rules for rubella?
5 days from onset of rash
56
SCHOOL EXCLUSION
what are the rules for mumps?
5 days from onset of swollen glands
57
OSTEOMYELITIS
What is the management of osteomyelitis?
- IV empirical Abx (flucloxacillin or clindamycin if allergy) until sensitivities back
- Amoxicillin, cefotaxime or ceftriaxone if <4y + suspect H. influenzae
- ?Surgical drainage or debridement of infected bone
58
PERTHE'S DISEASE
What are some risk factors for Perthe's disease?
- Social deprivation
- LBW
- Passive smoking
59
PERTHE'S DISEASE
What are the complications of Perthe's disease?
- Premature fusion of the growth plates
- Soft + deformed femoral head can lead to early hip OA
60
JIA
What is the criteria for a clinical diagnosis of JIA?
- Onset before 16y with no underlying cause
- Joint swelling/stiffness
- >6w in duration to exclude other causes (i.e. reactive)
61
JIA
What are the investigations for systemic JIA?
- Antinuclear antibodies (ANA) + rheumatoid factor = NEGATIVE
- Raised inflammatory markers = CRP/ESR, platelets + serum ferritin
62
JIA
What is the main complication of systemic JIA?
- Macrophage activation syndrome = severe activation of immune system with massive inflammatory response
63
JIA
How might enthesitis-related arthritis present?
- Sx of psoriasis (psoriatic plaques, nail pitting, dactylitis) or IBD
64
JIA
What are the XR features of JIA?
Same as RA (LESS) –
- Loss of joint space
- Erosions (causing joint deformity)
- Soft tissue swelling
- Soft bones (osteopenia)
65
JIA
What are some complications from JIA?
- Chronic anterior uveitis > severe visual impairment
- Flexion contractures of joints
- Growth failure + constitutional problems like delayed puberty
- Osteoporosis
66
OSTEOPOROSIS
What are the causes of osteoporosis?
- Inherited = osteogenesis imperfecta, haematological issues
- Acquired:
– Drug induced (Steroids)
– Endocrinopathies (hypoparathyroidism)
– Malabsorption
– Immobilisation (disabilities)
– Inflammatory disorders
67
OSTEOGENESIS IMPERFECTA
What are some associations with osteogenesis imperfecta?
- Conductive hearing loss (otosclerosis)
- Blue/grey tinted sclera due to scleral thinness
- Valvular prolapse, aortic dissection > aortic incompetence
- Hernias
- 'Wormian bones' = skull feels like bubble wrap (wiggly black lines on skull XR)
68
OSTEOGENESIS IMPERFECTA
What are the investigations for osteogenesis imperfecta?
- Clinical Dx with XR to diagnose fractures + bone deformities
- DEXA scan to look at bone mineral density (osteoporosis)
- 7 types under the sillence classification
69
OSTEOGENESIS IMPERFECTA
In the Sillence classification, what is...
i) type 1?
ii) type 2?
iii) types 3–4?
i) Mildest form, common with blue sclera
ii) Lethal form, chest too small to allow breathing, lots of rib # + lungs do not function
iii) Normal sclera
70
RICKETS
What are some risk factors for rickets?
- Darker skin (need more sunlight)
- Lack of exposure to sun
- Poor diet or malabsorption
- CKD as kidneys metabolise vitamin D to active form
71
RICKETS
What are the symptoms of rickets?
- Bone pain, swelling + deformities
- Muscle weakness + poor growth (gross motor delay)
- Pathological or abnormal #
- May have hypocalcaemic convulsions or carpopedal spasm
72
RICKETS
What are some bone deformities seen in rickets?
- Bowing of legs, knock knees
- Harrison sulcus = indentation of softened lower ribcage at site of attachment of diaphragm
- Rachitic rosary = ends of ribs expand at costochondral junctions causing lumps along chest
- Craniotabes = soft skull with delayed closure of sutures + frontal bossing
- Expansion of metaphyses (esp. wrist)
73
RICKETS
What are some investigations for rickets?
- Serum biochemistry
- FBC + ferritin (Fe anaemia), inflammatory markers
- Kidney, liver + TFTs, malabsorption screen (anti-TTG)
- Autoimmune + rheumatoid tests
- XR required to diagnose
74
RICKETS
What would serum biochemistry show in rickets?
- Low = calcium + phosphate
- High = ALP + PTH
- 25-hydroxyvitamin D levels deficient (<25nmol/L)
75
RICKETS
What might an XR show in rickets?
- Osteopenia (radiolucent bones)
- Cupping
- Fraying of metaphyses
- Widened epiphyseal plate
76
PSORIASIS
What is the pathophysiology of psoriasis?
- Chronic autoimmune condition where abnormal T-cell activation > hyperproliferation of keratinocytes + so psoriatic skin lesions
77
PSORIASIS
What is the clinical presentation of psoarisis?
- Koebner phenomenon = new plaques of psoriasis at sites of skin trauma
- Residual pigmentation of skin after lesions resolve
- Auspitz sign = small points of bleeding when plaques scraped off
- Nail changes (pitting + onycholysis)
78
PSORIASIS
What is the management of psoriasis?
- 1st line = topical steroids, topical vitamin d analogues (calcipotriol)
- 2nd line = UV phototherapy
- 3rd line = immunosuppression with methotrexate or biologics
79
STEVEN-JOHNSON
What are some potential causes of Steven-Johnson syndrome?
- Meds = AEDs, Abx, allopurinol, NSAIDs
- Infections = herpes simplex, mycoplasma pneumonia, CMV, HIV
80
SCOLIOSIS
what are the causes?
- idiopathic = most common
- congenital = usually from congenital structural defect of the spine e.g. spina bifida
- secondary = neuromuscular imbalance (cerebral palsy, muscular dystrophy), disorders of bone or connective tissues
81
SCOLIOSIS
what conditions can cause scoliosis?
cerebral palsy
muscular dystrophy
birth defects
infections
tumours
marfan syndrome
down syndrome
82
TORTICOLLIS
what are the causes of congenital torticollis?
- congenital muscular torticollis (CMT) = usually noticed in 1st month after birth. It causes shortening + fibrosis of sternocleidomastoid (can have palpable mass)
- malformed cervical spine
- spina bifida
83
TORTICOLLIS
what are the causes of acquired torticollis?
- MSK = muscle spasm
- infection = URTI, otitis media, dental infection, pharyngeal infection
- atlantoaxial rotatory fixation
- inflammation = juvenile idiopathic arthritis
- neoplasm = CNS tumours
84
OSGOOD SCHLATTERS
what are the risk factors?
- male gender
- age - 12-15 in boys, 8-12 in girls
- sudden skeletal growth
- repetitive activities such as jumping and sprinting
85
SEPTIC ARTHRITIS
What are common causes in...
i) infants?
ii) <4y?
iii) >4y?
i) GBS, S. aureus, coliforms
ii) S. aureus, pneumococcus, haemophilus
iii) S. aureus, gonococcus (adolescents)
86
SEPTIC ARTHRITIS
what is the criteria for diagnosing septic arthritis?
Kocher's modified criteria /5, ≥3 is likely
–Temp>38.5
– Raised CRP/ESR/WCC
– Non-weight bearing
87
JIA
What is the immunology of polyarticular JIA?
If rheumatoid factor +ve = seropositive (tend to be older children)
88
JIA
what is the immunology of oligoarticular JIA?
ANA +ve but RF -ve
89
JIA
What is it associated with?
- HLA-B27 gene
- Prone to anterior uveitis = ophthalmology referral
90
JIA
What causes reactive arthritis?
Post STI (chlamydia) in older children or Salmonella, Campylobacter
91
RICKETS
What are some sources of vitamin D?
Sunlight, fortified cereals, eggs, oily fish
92
JIA
How does macrophage activation syndrome present?
- Acutely unwell with DIC,
- febrile,
- anaemia,
- thrombocytopenia,
- bleeding,
- non-blanching rash,
- low ESR
93
JIA
What is the management of macrophage activation syndrome?
Life-threatening = supportive + steroids
94
BONE TUMOURS
What are some investigations for bone tumours?
- Raised ALP on bloods
- Plain XR followed by MRI + bone scan, ?PET scan + bone biopsy
- CT chest for lung mets + bone marrow sampling to exclude involvement
95
RETINOBLASTOMA
What is a genetic cause of retinoblastoma?
How might it present?
- Retinoblastoma susceptibility gene on chromosome 13 = AD but incomplete penetrance > offer genetic screening
- All bilateral tumours are hereditary, 20% of unilateral are
96
RETINOBLASTOMA
What are some complications of retinoblastoma?
- Significant risk of second malignancy (especially sarcoma) amongst survivors of hereditary retinoblastoma
97
FANCONI SYNDROME
What is fanconi syndrome?
- Generalised reabsorptive disorder of renal tubular transport in the PCT resulting in...
– Type 2 (proximal) renal tubular acidosis
– Polydipsia, polyuria, aminoaciduria + glycosuria
– Osteomalacia/rickets
98
FANCONI SYNDROME
What are some causes of fanconi syndrome?
- Usually secondary to inborn errors of metabolism
– Cystinosis (AR > intracellular accumulation of cysteine, most common)
– Wilson's disease, galactosaemia, glycogen storage disorders
99
ANAEMIA OVERVIEW
What is anaemia?
How is it defined in paeds?
- Hb level below the normal range
- Neonate = <14g/dL
- 1–12m = <10g/dL
- 1–12y = <11g/dL
100
ANAEMIA OVERVIEW
What are some causes of decreased red cell production?
What are some clues?
- Ineffective erythropoiesis (Fe, folate deficiency, CKD)
- Red cell aplasia
- Normal reticulocytes, abnormal MCV in nutrient deficiencies
101
ANAEMIA OVERVIEW
What are some causes of haemolysis?
What are some clues?
- G6PD deficiency, haemoglobinopathies, hereditary spherocytosis
- Raised reticulocytes, abnormal appearance on blood films, +ve direct antiglobulin test if immune cause
102
ANAEMIA OVERVIEW
List 4 features of haemolytic anaemias
- Anaemia
- Hepatosplenomegaly
- Unconjugated bilirubinaemia
- Excess urinary urobilinogen
103
ANAEMIA OVERVIEW
What are some causes of anaemia in the neonate?
- Reduced RBC production = congenital red cell aplasia + congenital parvovirus infection > red cell aplasia
- Haemolytic anaemia = immune (haemolytic disease of newborn) or hereditary (G6PD etc)
104
ANAEMIA OVERVIEW
What are the main causes of anaemia of prematurity?
- Inadequate erythropoietin production
- Reduced red cell lifespan
- Frequent blood sampling whilst in hospital
- Iron + folic acid deficiency after 2-3m.
105
IRON DEF ANAEMIA
What are some causes of iron deficiency anaemia?
- Inadequate intake = common as infants require additional iron for increasing blood volume
- Malabsorption = Crohn's + coeliac
- Blood loss = common in menstruating females
106
IRON DEF ANAEMIA
What are some sources of iron?
What can affect iron absorption?
- Breast milk, formula, cow's milk or weaning (cereals)
- Markedly increased when eaten with food rich in vitamin C + inhibited by tannin in tea
107
IRON DEF ANAEMIA
What are some signs of iron deficiency anaemia?
- Generic = pallor (inc. conjunctival), tachycardia, tachypnoea
- Pica = consumption of non-food materials
- Koilonychia, angular cheilitis, brittle hair + nails
108
IRON DEF ANAEMIA
What are some investigations for iron deficiency anaemia and what would you see?
- FBC = low Hb, microcytic (low MCV + MCH), normal reticulocytes
- Blood film = hypochromic microcytic red cells
- Iron studies:
– Low = serum ferritin, iron + transferrin saturation
– High = total iron binding capacity
109
IRON DEF ANAEMIA
What is...
i) transferrin saturation?
ii) total iron binding capacity?
i) Proportion of transferrin bound to iron
ii) Total space on transferrin for Fe to bind
110
IRON DEF ANAEMIA
What are some side effects of treatment with oral iron supplementation?
- Constipation
- Black coloured stools
- Nausea
111
SICKLE CELL DISEASE
What is the genetics behind sickle cell disease?
- Autosomal recessive
- Abnormal gene for beta-globin on C11
- Heterozygous = sickle-cell trait
- Homozygous = sickle cell disease (HbSS)
112
SICKLE CELL DISEASE
What is a severe, classic feature of sickle cell disease?
Common location?
Presentation?
Most severe?
- Vaso-occlusive (painful) crises
- Bones of limbs + spine common (may lead to avascular necrosis e.g. femoral heads)
- Pain, fever + often those of triggering infection
- Acute chest syndrome
113
SICKLE CELL DISEASE
What is acute chest syndrome?
What can cause it?
Management?
- Fever or resp Sx (CP, tachypnoea) with new infiltrates on CXR
- Can be due to infection (pneumonia, bronchiolitis) or non-infective (pulmonary vaso-occlusion or fat emboli)
- Emergency > Abx or antivirals, blood transfusions for anaemia, may need NIV or intubation
114
SICKLE CELL DISEASE
Name 2 other vaso-occlusive crises
- 'Hand-foot syndrome' common leading to dactylitis
- Priapism in men > urological emergency, aspiration
115
SICKLE CELL DISEASE
Sickle cell disease may present with acute anaemia (sudden drop in Hb).
What can cause this?
- Haemolytic crises (sometimes with associated infection)
- Aplastic crises (parvovirus causes cessation of RBC production)
- Sequestration crises
116
SICKLE CELL DISEASE
What is a sequestration crisis?
What is the management?
- Sudden hepatic or splenic enlargement, abdo pain + circulatory collapse from accumulation of sickled cells blocking blood flow
- Supportive = blood transfusions, fluid resus, splenectomy can prevent this + used in recurrent crises as can lead to splenic infarction > increased infection susceptibility
117
SICKLE CELL DISEASE
What are some investigations for sickle cell disease?
- Prenatal Dx via CVS
- Detection via Guthrie test
- FBC = low Hb, high reticulocytes
- Blood film = sickled RBCs
- Dx with Hb electrophoresis showing high amounts of HbSS + absent HbA
118
SICKLE CELL DISEASE
What are some complications of sickle cell disease?
- Short stature + delayed puberty
- Stroke + cognitive issues
- Pulmonary HTN
- Chronic renal failure
- Psychosocial issues
119
SICKLE CELL DISEASE
What is the general management for sickle cell disease?
- Fully immunised (PCV, HiB, meningococcus)
- Avoid vaso-occlusive crisis triggers
- PO phenoxymethylpenicillin prophylaxis
- PO folic acid as increased demands due to haemolysis
- Hydroxycarbamide + hydroxyurea can stimulate HbF production to prevent painful crises
- Bone marrow transplant curative + offered if failed response
120
SICKLE CELL DISEASE
What are some potential triggers of vaso-occlusive crises?
How might these be prevented?
- Cold, dehydration, excessive exercise, stress + hypoxia
- Dress warmly, plenty of drinks
121
SICKLE CELL DISEASE
What is the management of an acute crisis?
- PO or IV analgesia according to need (?opiates)
- IV fluids, oxygen
- Infection treated with Abx, blood transfusion for severe anaemia
- Exchange transfusion if severe (e.g. neuro complications)
122
THALASSAEMIA
What is thalassaemia?
Consequence?
What are the 2 types?
- AR disorder arising from ≥1 gene defects, resulting in a reduced rate of production of ≥1 globin chains
- RBCs more fragile + breakdown easily
- Alpha = defect in alpha globin chains
- Beta = defect in beta globin chains
123
THALASSAEMIA
What happens if there is deletion of 1 or 2 alpha globin chains?
- Alpha thalassaemia trait
- Often asymptomatic with mild or absent anaemia
- Red cells hypochromic + microcytic
124
THALASSAEMIA
What happens if there is deletion of 3 alpha globin chains?
- Mild-moderate hypochromic microcytic anaemia + splenomegaly
- Few patients are transfusion dependent
125
THALASSAEMIA
What happens if there is deletion of all 4 alpha globin chains?
- Alpha thalassaemia major
- Death in utero with foetal hydrops from foetal anaemia
- Occurs in families of South-East Asian origin, homozygotes
126
THALASSAEMIA
What is the epidemiology of beta thalassaemia?
What are the three types?
- Indian subcontinent, Mediterranean + Middle East
- Beta thalassaemia minor (1 abnormal + 1 normal gene)
- Beta thalassaemia intermedia (2 defective or 1 defective + 1 deletion genes)
- Beta thalassaemia major (homozygous for deletion genes)
127
THALASSAEMIA
What is beta thalassaemia minor?
How does it present?
Differentiate?
- Carriers of abnormally functioning beta-globin gene
- Mild microcytic + hypochromic anaemia (monitor)
- Differentiate from Fe deficiency by measuring serum ferritin (normal)
128
THALASSAEMIA
What is beta thalassaemia intermedia?
Management?
- More severe microcytic anaemia, beta-globin mutation allow a small amount of HbA and/or a large amount of HbF to be produced
- Monitor + occasional blood transfusion
129
THALASSAEMIA
What is beta thalassaemia major?
How does it present?
- Most severe form with no HbA as abnormal beta globin gene
- - Severe transfusion-dependent anaemia from 3-6m, jaundice, failure to thrive
130
THALASSAEMIA
What is a complication of beta-thalassaemia major which isn't common in developed countries?
- Extramedullary haematopoiesis can occur if no regular blood transfusions
- Leads to hepatosplenomegaly + bone marrow expansion leading to maxillary overgrowth + skull bossing
131
THALASSAEMIA
What are some investigations for beta thalassaemia?
- FBC + blood film = hypochromic microcytic anaemia
- HbA2 raised in beta-thalassaemia trait, HbA2 + HbF raised in major
- Serum ferritin to differ between Fe anaemia + check iron overload
- Hb electrophoresis for Dx
- DNA testing via CVS before birth
132
THALASSAEMIA
What is the main complication of thalassaemia?
How might this present?
- Repeated + Regular blood transfusions can cause chronic iron overload
- Heart (cardiomyopathy, heart failure)
- Liver (cirrhosis)
- Pancreas (diabetes)
- Pituitary (delayed growth + sexual maturation)
- Skin (hyperpigmentation)
- Arthritis + joint pain
133
THALASSAEMIA
What is the management of thalassaemia?
- Lifelong monthly blood transfusions for the most severe cases
- Desferrioxamine for iron chelation to prevent overload
- Bone marrow transplant can be curative, reserved for beta thalassaemia major
134
HAEMOPHILIA
What are the 2 types of haemophilia?
What causes it?
- Haemophilia A = factor VIII deficiency
- Haemophilia B = factor IX deficiency
- X-linked recessive (M>F), A>B, girls with Turner's increased risk as 1 X
135
HAEMOPHILIA
What are some investigations for haemophilia?
- FBC + blood film
- Prothrombin time (factors 2, 5, 7, 10, extrinsic) normal
- Activated partial thromboplastin time (intrinsic) = greatly increased
- Severity dependent on amount of FVIII:C or FIX:C levels
- Prenatal Dx with CVS
136
HAEMOPHILIA
What is the management of haemophilia?
- IV infusion of recombinant FVIII or FIX concentrate if active bleeding (or prophylactic to reduce arthropathy risk)
- Desmopressin stimulates vWF release for bleeding/prevention, TXA
- AVOID aspirin, NSAIDs + IM injections (can worsen bleeding)
137
HAEMOPHILIA
What is a complication of the treatment for haemophilia?
- Formation of antibodies against the clotting factor can render it ineffective
138
VON WILLEBRAND DISEASE
What is the physiological role of von Willebrand factor?
- Facilitates platelet adhesion to damaged endothelium
- Acts as carrier protein for FVIII:C, protecting it from inactivation + clearance
139
VON WILLEBRAND DISEASE
What is von Willebrand disease (vWD)?
What causes it?
Types?
- Deficiency of vWF leading to defective platelet plug formation + deficient FVIII:C > most common inherited bleeding disorder
- AD, type 1 most common + mildest
- Severity increases with type 2, type 3 has very low or no vWF (AR)
140
VON WILLEBRAND DISEASE
What is the clinical presentation of vWD?
- Bruising, excessive + prolonged bleeding after surgery, mucosal bleeding (epistaxis, menorrhagia, bleeding gums)
- In contrast to haemophilia = spontaneous soft tissue bleeding like large haematomas uncommon
141
VON WILLEBRAND DISEASE
What are some investigations for vWD?
- FBC (normal platelets) + blood film, biochemical screen including renal + liver function
- Prolonged bleeding time
- Prothrombin time normal
- APTT = elevated or normal
- vWF antigen decreased, vWF multimers variable
142
VON WILLEBRAND DISEASE
What is the management of vWD?
- Pressure applied if active bleeding
- Minimise bleeding with desmopressin or TXA
- Severe = plasma derived FVIII concentrate or vWF infusion
- AVOID aspirin, NSAIDs + IM injections as can worsen bleeding
143
VON WILLEBRAND DISEASE
How is desmopressin given?
What does it do?
- Nasal or s/c
- Release of vWF + FVIII concentrate
144
COAGULATION DISORDERS
What are acquired disorders of coagulation?
Secondary to
- Haemorrhagic disease of the newborn due to vitamin K deficiency
- Liver disease as location of clotting factor production
- ITP + DIC
145
COAGULATION DISORDERS
What can cause vitamin K deficiency?
- Inadequate intake = neonates, long-term chronic illness
- Malabsorption = coeliac, cystic fibrosis
- Vitamin K antagonists = warfarin
146
ITP
What are the investigations for ITP?
- FBC shows marked thrombocytopenia
- May have compensatory megakaryocyte increase in bone marrow
147
ITP
What is the management of ITP?
- Often acute + self-limiting
- Severe bleeding may need prednisolone, IVIg, blood/platelet transfusions
148
HAEMOLYTIC DISEASE OF THE NEWBORN
what is the clinical presentation?
- anti-D antibodies in mother detected by Coombe's test that all women have at 1st antenatal appointment
- routine USS may detect hydrops fetalis or polyhydramnios
- mild cases = jaundice, pallor + hepatosplenomegaly, hypoglycaemia
- severe cases = oedema, petechiae + ascites
149
HAEMOLYTIC DISEASE OF THE NEWBORN
what are the investigations?
- indirect coombe's test show antibodies
- antenatal USS shows hydrops fetalis
- fetal blood sample
150
HAEMOLYTIC DISEASE OF THE NEWBORN
what is the management in utero?
- transfusion of O negative packed cells cross-matched with maternal blood at 16-18 weeks
151
HAEMOLYTIC DISEASE OF THE NEWBORN
what is the management after delivery?
50% = normal haemoglobin + bilirubin but should be monitored for anaemia for 6-8 weeks
25% = require transfusion + may require phototherapy to avoid kernicterus
25% = stillborn or have hydrops fetalis
152
HAEMOLYTIC DISEASE OF THE NEWBORN
what are the complications?
- kernicterus which can cause extrapyramidal, auditory and visual abnormalities and cognitive deficit
- late-onset anaemia
- graft-versus-host disease
- portal vein thrombosis + portal hypertension
153
HODGKINS LYMPHOMA
What blood results may you see in someone with Hodgkin's lymphoma?
- high ESR
- FBC = anaemia (normochromic normocytic)
- reed sternberg cells
- low Hb
- high serum lactase dehydrogenase
154
AML
What are the risk factors for AML?
Preceding haematological disorders
Prior chemotherapy
Exposure to ionising radiation
Down’s syndrome
155
AML
what are the clinical features of AML?
Anaemia -> breathlessness, fatigue, pallor
Infection
Hepatosplenomegaly
Peripheral lymphadenopathy
Gum hypertrophy
Bone marrow failure and bone pain
156
AML
What would you expect to see on an FBC and bone marrow biopsy in someone you suspect to have AML?
FBC = anaemia and thrombocytopenia and neutropenia
BM biopsy = leukaemic blast cells (with Auer rods)
157
CML
what are the clinical features of CML?
Insidious onset
Symptomatic anaemia
Abdominal pain - splenomegaly
Weight loss, tiredness, palor
Gout - due to purine breakdown
Bleeding - due to platelet dysfunction
158
CML
what are the investigations for CML?
FBC - anaemia, raised myeloid cells, high WCC (eosinophilia, basophilia, neutrophilia)
Increased B12
Blood film - left shirt, basophilia
Bone marrow biopsy - increased cellularity
Philadelphia chromosome seen in 80+% of cases t(9;2) - Stimulates cell division
159
CML
What is the treatment for CML?
Chemotherapy
Tyrosine kinase inhibitors, e.g. Imatinib - Given orally
Stem cell transplant
160
CML
Why does the Philadelphia chromosome cause CML?
FORMS fusion gene BCR/ABL on chromosome 22 –> tyrosine kinase activity –> stimulates cell division
161
CLL
what are the investigations for CLL?
● Normal or low Hb
● Raised WCC with very high lymphocytes
● Blood film – smudge cells may be seen in vitro
162
CLL
What is the treatment for CLL?
Watch and wait
Chemotherapy
Monoclonal antibodies, e.g. rituximab
Targeted therapy, e.g. bruton kinase inhibitors (ibrutinib)
163
GENETICS OVERVIEW
What is genomic imprinting + uniparental disomy?
Give an example
- Most genes both copies are expressed, some genes are only maternally or paternally expressed (imprinting)
- Prader-Willi + Angelman's syndrome both caused by either cytogenic deletions of the same region of chromosome 15q or by uniparental disomy of chromosome 15
164
GENETICS OVERVIEW
Explain the process of gonadal mosaicism
- Father = mosaic sperm (some sperm with mutated gene, some sperm normal)
- Mother = all eggs with normal gene
- Offspring = fertilised egg > union of male DNA (sperm) with mutated gene + female DNA (egg) with normal gene
- Every cell of embryo has one copy of mutated + one copy of normal
165
TURNER'S SYNDROME
What are some complications of Turner's syndrome?
- Coarctation or bicuspid aortic valve
- Increased risk of CHD > HTN, obesity
- DM, osteoporosis, hypothyroidism
- Recurrent otitis media + UTIs
- Horseshoe kidney, susceptible to x-linked recessive conditions
166
DUCHENNE'S
What is Duchenne's muscular dystrophy?
- X-linked recessive chromosome 21 = gene deletion for dystrophin (connects muscle fibres to ECM)
167
DUCHENNE'S
What is the clinical presentation of Duchenne's muscular dystrophy?
- Proximal muscle weakness from 5y
- Delayed milestones
- Waddling gait
- Gower sign +ve
- Calf pseudohypertrophy (replaced by fat + fibrous tissue)
168
KLINEFELTER SYNDROME
What is the clinical presentation of Klinefelter syndrome?
- Often appear normal until puberty
- Taller height + wider hips
- Delayed puberty (lack of pubic hair, poor beard growth)
- Gynaecomastia, small testicles/penis, infertility
- Weaker muscles, shyness, subtle learning difficulties (esp. speech + language)
169
KLINEFELTER SYNDROME
What are some complications of Klinefelter syndrome?
- Increased risk of breast cancer compared to other males
- Osteoporosis
- Diabetes
- Anxiety + depression
170
ANGELMAN'S SYNDROME
What is Angelman's syndrome?
What is it caused by?
- Genetic imprinting disorder due to deletion of maternal chromosome 15 or paternal uniparental disomy
- Loss of function of maternal UBE3A gene
171
ANGELMAN'S SYNDROME
What is the clinical presentation of Angelman's syndrome?
- "Happy puppet" = unprovoked laughing, clapping, hand flapping, ADHD
- Fascination with water
- Epilepsy, ataxia, broad based gait
- Severe LD, delayed development
- Widely spaced teeth, microcephaly
172
NOONAN'S SYNDROME
What is Noonan's syndrome?
- Autosomal dominant condition with defect on chromosome 12, normal karyotype
173
NOONAN'S SYNDROME
What is the clinical presentation of Noonan's syndrome?
- Short stature, webbed neck, widely spaced nipples (Male Turner's)
- Pectus excavatum, low set ears
- Hypertelorism (wide space between eyes)
- Downward sloping eyes with ptosis
- Curly/woolly hair
174
NOONAN'S SYNDROME
What are some complications of Noonan's syndrome?
- CHD = pulmonary valve stenosis
- Cryptorchidism which can lead to infertility (fertility in women normal)
- LDs, bleeding disorders (XI deficient)
175
WILLIAM'S SYNDROME
What is William's syndrome?
- Random deletion of genetic material on one copy of chromosome 7 resulting in only single copy of genes from other chromosome 7
176
WILLIAM'S SYNDROME
What is the clinical presentation of William's syndrome?
- Very friendly + sociable
- Starburst eyes (star-pattern on iris)
- Wide mouth, big smile + widely spaced teeth
- Broad forehead, short nose + small chin
- Mild LD, short stature
177
WILLIAM'S SYNDROME
What are some complications of William's syndrome?
- Supravalvular aortic stenosis
- ADHD
- HTN + hypercalcaemia
178
PRADER-WILLI SYNDROME
What is Prader-Willi syndrome?
- Genetic imprinting disorder due to deletion of paternal chromosome 15 or maternal uniparental disomy
179
CONGENITAL HYPOTHYROIDISM
What is the clinical presentation of congenital hypothyroidism?
- Prolonged neonatal jaundice
- Delayed mental + physical milestones
- Puffy face, macroglossia + hypotonia
- Failure to thrive + feeding problems
- Coarse facies + hoarse cry
180
PUBERTY
Explain the tanner stages for...
i) breast?
ii) pubic hair?
iii) genitalia?
i) BI = pre-pubertal, BII = breast bud, BIII = juvenile smooth contour, BIV = areola + papilla project above breast, BV = adult
ii) PHI = none, PHII = sparse, PHIII = dark, coarser, curlier, PHIV = filling out, PHV = adult
iii) GI = pre-adolescent, GII = lengthens, GIII = growth in length + circumference, GIV = glans penis develops, GV = adult
181
PRECOCIOUS PUBERTY
What is the pathophysiology and potential causes of central precocious puberty?
Pathophysiology: LH++, FSH+ > oestrogen from ovary ++ or testosterone from testis ++ & adrenal +
Causes:
- Familial,
- hypothyroidism,
- CNS (neurofibroma, tuberous sclerosis)
182
PRECOCIOUS PUBERTY
What causes premature pubarche (adrenarche)?
How can you tell?
- Accentuation of normal maturation of androgen production by adrenal gland (adrenarche), can be late-onset CAH or adrenal tumour
- Urinary steroid profile to help differentiate
183
PRECOCIOUS PUBERTY
What are the risk factors with premature pubarche (adrenarche)?
- More common in Asian + Afro-Caribbean, increased risk of PCOS later in life
184
CAH
What is the clinical presentation of CAH in females?
- Tall for age, facial hair, absent periods, deep voice + precocious puberty
- Severe = virilised genitalia (ambiguous), labial fusion + enlarged clitoris
185
CAH
What are some investigations for CAH?
- Monitor growth, skeletal maturity, plasma androgens
- High metabolic precursor levels of 17alpha-hydroxyprogesterone (used to monitor disease too)
186
CAH
What is the general management of CAH?
- Lifelong glucocorticoids (hydrocortisone) to suppress ACTH > normal growth
- Lifelong mineralocorticoids (fludrocortisone) if there's salt loss, infants may need NaCl
- Additional hydrocortisone to cover illness/surgery
- Antenatal dexamethasone controversial treatment, risks>benefits currently
187
SEXUAL DIFFERENTIATION
What are some causes of sexual differentiation disorders?
- CAH (#1)
- Congenital hypopituitarism (Prader-Willi)
- Ovotesticular disorder of sex development (true hermaphroditism) leading to both testicular + ovarian tissues as XX + XY containing cells present
188
DELAYED PUBERTY
What are some causes of hypogonadotropic hypogonadism?
- Constitutional delay in growth + puberty (FHx)
- Chronic diseases (IBD, CF, coeliac)
- Excess stress (anorexia, intense exercise, low weight)
- Hypothalamo-pituitary disorders (panhypopituitarism, Kallman's + anosmia, GH deficiency)
189
DELAYED PUBERTY
What are some causes of hypergonadotropic hypogonadism?
- Chromosomal abnormalities (Turner's XO, Klinefelter's 47XXY)
- Acquired gonadal damage (post-surgery, chemo/radio, torsion)
- Congenital absence of the testes or ovaries
190
DELAYED PUBERTY
In delayed puberty, what are some causes of...
i) short stature (delayed + short)?
ii) normal stature (delayed + normal)?
i) Turner's, Prader-Willi + Noonan's
ii) PCOS, androgen insensitivity, Kallmann's + Klinefelter's
191
DELAYED PUBERTY
What are some investigations for delayed puberty?
- FBC + ferritin (anaemia), U+E (CKD), coeliac antibodies
- Hormonal testing
- Genetic testing/karyotyping
- XR wrist to assess bone age (low in constitutional delay)
- Pelvic USS to assess ovaries + other pelvic organs
- MRI head if ?pituitary pathology + assess olfactory bulbs (Kallmann)
192
DELAYED PUBERTY
What are the hormonal tests you would do in delayed puberty?
- Early morning serum gonadotropins (FSH/LH)
- TFTs
- GH provocation testing (insulin, glucagon)
- IGF-1 levels
- Serum prolactin
193
PICA
what health problems can be caused?
- iron deficiency anaemia
- lead poisoning
- constipation or diarrhoea
- infections
- intestinal obstruction
- mouth or teeth injuries
194
PICA
what are the causes?
- developmental problems e.g. autism
- mental health problems e.g. OCD, schizophrenia
- malnutrition or hunger
- stress
195
PICA
how is it diagnosed?
eating non-food items and:
- doing so for 1 month
- behaviour is not normal for child's age
- has risk factors for pica
196
PICA
what are the investigations?
- blood tests - anaemia, lead levels
- stool tests - parasites
- x-rays
197
KALLMAN SYNDROME
what are the clinical features?
- hypogonadotropic hypogonadism
- anosmia
- synkinesia (mirror-image movements)
- renal agenesis
- visual problems
- craniofacial anomalies
198
ANDROGEN INSENSITIVITY SYNDROME
what is the inheritance pattern?
x-linked recessive
199
ANDROGEN INSENSITIVITY SYNDROME
what are the results of hormone tests?
- raised LH
- normal/raised FSH
- normal/raised testosterone
- raised oestrogen
200
ANDROGEN INSENSITIVITY SYNDROME
what is the management?
- bilateral orchidectomy to avoid testicular tumours
- oestrogen therapy
- vaginal dilators or vaginal surgery
- generally patients are raised as female
- offered support and counselling
201
FRAGILE X SYNDROME
What causes it?
Trinucleotide expansion repeat of CGG caused by slipped mispairing = ≤44 normal, 60–200 = premutation carriers, >200 = fragile X
202
PRECOCIOUS PUBERTY
What is the pathophysiology of pseudo precocious puberty?
Low LH + FSH as gonadal or extra-gonadal source leads to increased testosterone or oestrogen
203
PRECOCIOUS PUBERTY
What are the causes in females?
More common in girls, usually idiopathic or familial, occasionally late presenting CAH
204
PRECOCIOUS PUBERTY
What are the causes in males?
Less common, more worrying
– Pituitary adenoma (bilateral testicular enlargement suggests gonadotropin release)
– CAH or adrenal tumour (small testes)
– Gonadal tumour (unilateral testicular enlargement)
205
PRECOCIOUS PUBERTY
What is a genetic cause of precocious puberty?
McCune Albright syndrome (café-au-lait, short stature)
206
GONADOTROPIN DEFICIENCY
Give 2 causes of primary hypogonadism
Hypergonadotropic hypogonadism
Klinefelter’s Syndrome (47XXY)
Tuner’s Syndrome (45X)
207
GONADOTROPIN DEFICIENCY
What is Hypogonadotropic hypogonadism?
Secondary gonadal failure = problem with pituitary
OR
Tertiary gonadal failure = Problem with hypothalamus
208
GONADOTROPIN DEFICIENCY
Give 2 causes of Hypogonadotropic hypogonadism
1. Kallmann’s Syndrome
2. Tumours - craniopharyngiomas, germinomas
209
HYPOTHALAMIC TUMOURS
what are the risk factors for developing hypothalamic tumours?
neurofibromatosis
undergone radiation therapy
210
HYPOTHALAMIC TUMOUR
what is the clinical presentation?
- euphoric 'high' sensations
- failure to thrive
- headache
- hyperactivity
- loss of body fat and appetite
- vision loss
- precocious puberty
211
HYPOTHALAMIC TUMOUR
what are the investigations?
- full neurological examination
- blood tests for CRH, GH, GnRH, TRH, dopamine and somatostatin
- CT/MRI scan
- visual field testing
212
PRECOCIOUS PUBERTY
What are the causes of pseudo precocious puberty?
Causes:
– Adrenal (tumours, CAH)
– Granulosa cell tumour (ovary)
– Leydig cell tumour (testicular)
213
PRECOCIOUS PUBERTY
What is the management for premature pubarche (adrenarche)?
USS of ovaries + uterus with bone age to exclude central precocious puberty
214
CAH
How does salt-losing crisis present?
– Vomiting, weight loss, floppiness + circulatory collapse
– Hyponatraemic, hyperkalaemic, metabolic acidosis, hypoglycaemic
215
CAH
What is the management of salt-losing crisis?
IV 0.9% NaCl + dextrose,
IV hydrocortisone
216
OBESITY
what are the causes of obesity in children other than lifestyle factors?
- growth hormone deficiency
- hypothyroidism
- Down's syndrome
- Cushing's syndrome
- Prader-Willi syndrome
217
TYPE 1 DIABETES
what are the investigations for a new diagnosis?
- FBC, U+Es, glucose
- blood cultures
- HbA1c
- TFTs + TPO
- anti-TTG
- insulin antibodies, anti-GAD + islet cell antibodies
218
TYPE 1 DIABETES
what are the pros and cons of insulin pumps?
pros - better blood glucose control, more flexibility eating and less injections
cons - difficulties learning how to use, blockages in infusion set, having it attached at all times, infection risk
219
DKA
what is the clinical presentation?
Polyuria
Polydipsia
Nausea and vomiting
Weight loss
Acetone smell to their breath
Dehydration and subsequent hypotension
Altered consciousness
Symptoms of an underlying trigger (i.e. sepsis)
220
DKA
what is required to diagnose DKA?
Hyperglycaemia (i.e. blood glucose > 11 mmol/l)
Ketosis (i.e. blood ketones > 3 mmol/l)
Acidosis (i.e. pH < 7.3)
221
DKA
what are the principles of DKA management in children?
- correct dehydration evenly over 48hrs
- give an initial bolus followed by ongoing fluids
- insulin should be delayed by 1-2hrs to reduce chance of cerebral oedema
- 0.05-0.1 units/kg/hr of insulin
222
DKA
what are the different classifications of DKA?
Mild - pH 7.2-7.29 or bicarb <15mmol/L, dehydration = 5%
moderate - pH 7.1-7.19 or bicarb <10mmol/L, dehydration = 7%
severe - pH <7.1 or bicarb <5mmol/L, dehydration = 10%
223
DKA
what fluids are given to children not in shock?
initial bolus - 10ml/kg 0.9% NaCl over 1 hour
ongoing fluids - 0.9% NaCl with 20mmol KCl in each 500ml bag
1. calculate fluid deficit based on % dehydration
2. subtract initial 10ml/kg bolus from this
3. add maintenance fluids
224
DKA
what are the complications?
cerebral oedema
hypokalaemia
aspiration pneumonia
hypoglycaemia
225
CAH
what is a clue in exams that the diagnosis is CAH?
skin hyperpigmentation
caused by anterior pituitary producing more ACTH. A by-product of this is melanocyte stimulating hormone which causes more melanin.
226
CAH
what is the presentation of a salt-losing crisis?
hyponatraemia
hyperkalaemia
metabolic acidosis
