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B TO REVISE - PHASE 3A > B PAEDS PART 2 TO DO > Flashcards

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
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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)
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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
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4
Q

SEPTICAEMIA
What are the causes of septicaemia?

A
  • Most common = N. meningitidis
  • Neonates = GBS or gram -ve organisms from birth canal
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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
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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
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7
Q

MUMPS
What are some complications of mumps?

A
  • Viral meningitis + encephalitis
  • Orchitis (usually unilateral, may reduce sperm count + lead to infertility)
  • Pancreatitis
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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
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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
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10
Q

STAPH SCALDED SKIN
What is the management of SSSS?

A
  • Most need admission for IV flucloxacillin, fluid balance + analgesia
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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
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12
Q

HIV
When should HIV be suspected?

A
  • Persistent lymphadenopathy
  • Hepatosplenomegaly
  • Recurrent fever
  • Parotitis
  • Serious, persistent, unusual, recurrent (SPUR) infections
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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
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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
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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
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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
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17
Q

TUBERCULOSIS
What are some complications of TB?

A
  • Pleural + pericardial effusions
  • Lung collapse
  • Lung consolidation
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18
Q

VACCINATIONS
What vaccines are attenuated?

A
  • MMR, BCG, nasal flu, rotavirus + Men B
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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

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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)

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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
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22
Q

ALLERGY
Define hypersensitivity

A

Objectively reproducible symptoms/signs following a defined stimulus at a dose tolerated by a normal person

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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
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24
Q

ALLERGY
Give an example of a type 1hypersensitivity reaction

A
  • acute anaphylaxis,
  • hayfever
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25
Q

ALLERGIC RHINITIS
What are the different types of antihistamines that can be taken for allergic rhinitis?

A
  • Non-sedating = cetirizine, loratadine
  • Sedating = chlorphenamine (Piriton) + promethazine
  • Nasal may be good option for rapid onset Sx in response to trigger
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26
Q

ANAPHYLAXIS
What investigation confirms anaphylaxis?

A
  • Serum mast cell tryptase within 6h of event = mast cell degranulation
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27
Q

IMMUNE DEFICIENCY
What are the 6 types of immune deficiency?

A
  • T-cell defects
  • B-cell defects
  • Combined B- + T-cell defects
  • Neutrophil defect
  • Leucocyte function defect
  • Complement defects
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28
Q

IMMUNE DEFICIENCY
What are T-cell defects?

A
  • Severe/unusual viral + fungal infections + failure to thrive in first 2m
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29
Q

IMMUNE DEFICIENCY
What are B-cell defects?
Give some examples

A
  • 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
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30
Q

IMMUNE DEFICIENCY
Give some examples of combined B- and T-cell disorders

A
  • 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
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31
Q

IMMUNE DEFICIENCY
What do neutrophil defects lead to?
Give an example

A
  • Recurrent bacterial infections
  • Chronic granulomatous disease = X-linked recessive, defect in phagocytosis as fail to produce superoxide after ingestion
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32
Q

IMMUNE DEFICIENCY
What are leucocyte function defects?
Give an example

A
  • 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
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33
Q

IMMUNE DEFICIENCY
What are complement defects?
Examples

A
  • Recurrent bacterial infections (meningococcal, HiB, pneumococcus), SLE-like illness
  • Hereditary angioedema (measure C4 levels)
  • Mannose-binding lectin deficiency
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34
Q

IMMUNE DEFICIENCY
What are some investigations for immune deficiency?

A
  • FBC (WCC, lymphocytes, neutrophils)
  • Blood film
  • Complement
  • Immunoglobulins
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35
Q

IMMUNE DEFICIENCY
What prophylaxis should be given in immune deficiency?

A
  • T-cell + neutrophil = co-trimoxazole for PCP, fluconazole for fungal
  • B-cell = azithromycin for recurrent bacterial infections
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36
Q

IMMUNE DEFICIENCY
What is the management of immune deficiency?

A
  • 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
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37
Q

WHOOPING COUGH
What are some complications of pertussis?

A
  • Pneumonia
  • Convulsions
  • Bronchiectasis
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38
Q

POLIO
what is the clinical presentation?

A

90-95% of cases are asymptomatic
fatigue
fever
nausea and vomiting
diarrhoea
sore throat
headache
photophobia

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39
Q

POLIO
what are the clinical features of a more serious polio infection?

A

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

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40
Q

POLIO
what are the investigations?

A
  • virus culture from stool, CSF or pharynx
  • CSF analysis
  • serum antibodies to poliovirus
  • MRI of spinal cord
  • EMG of affected limb(s)
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41
Q

DIPHTHERIA
what is the cause?

A

Corynebacterium diphtheriae

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42
Q

DIPHTHERIA
what is the management?

A
  • hospitalisation, isolation
  • diphtheria anti-toxin
  • antibiotic (procaine benzylpenicillin)
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43
Q

DIPHTHERIA
what is the management for close-contacts?

A

prophylactic antibiotics - erythromycin

diphtheria toxoid immunisation

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44
Q

GLANDULAR FEVER
What are the complications of glandular fever?

A
  • Splenic rupture,
  • haemolytic anaemia,
  • chronic fatigue,
  • EBV associated with Burkitt’s lymphoma
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45
Q

TUBERCULOSIS
When diagnosing TB, what would you see on CXR?

A
  • Patchy consolidation,
  • pleural effusions,
  • hilar lymphadenopathy
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46
Q

ALLERGY
Define atopy

A

Personal/familial tendency to produce IgE in response to ordinary exposures to allergens (triad = eczema, asthma + rhinitis)

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47
Q

ALLERGY
Give an example of a type 2 hypersensitivity reaction

A
  • autoimmune disease,
  • haemolytic disease of newborn,
  • transfusion reaction
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48
Q

ALLERGY
Give an example of a type 3 hypersensitivity reaction

A
  • SLE,
  • RA,
  • HSP,
  • post-strep glomerulonephritis
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49
Q

ALLERGY
Give an example for of a type 4 hypersensitivity reaction

A
  • TB,
  • contact dermatitis
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50
Q

IMMUNE DEFICIENCY
Give some examples of T-cell defects

A
  • DiGeorge syndrome
  • HIV
  • Duncan syndrome (X-linked lymphoproliferative disease)
  • Ataxic telangiectasia
  • Wiskott-Aldrich
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51
Q

VACCINATIONS
Which vaccines are included in the 6-in-1 injection?

A
  • diphtheria
  • tetanus
  • pertussis DTaP (whooping cough)
  • polio IPV
  • Haemophilus influenza B (HiB)
  • Hepatitis B
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52
Q

SCHOOL EXCLUSION
what are the rules for scarlet fever?

A

24hrs after commencing antibiotics

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53
Q

SCHOOL EXCLUSION
what are the rules for measles?

A

4 days from onset of rash

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54
Q

SCHOOL EXCLUSION
what are the rules for whooping cough?

A

2 days after commencing antibiotics (or 21days from onset of symptoms if no antibiotics)

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55
Q

SCHOOL EXCLUSION
what are the rules for rubella?

A

5 days from onset of rash

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56
Q

SCHOOL EXCLUSION
what are the rules for mumps?

A

5 days from onset of swollen glands

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57
Q

OSTEOMYELITIS
What is the management of osteomyelitis?

A
  • 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
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58
Q

PERTHE’S DISEASE
What are some risk factors for Perthe’s disease?

A
  • Social deprivation
  • LBW
  • Passive smoking
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59
Q

PERTHE’S DISEASE
What are the complications of Perthe’s disease?

A
  • Premature fusion of the growth plates
  • Soft + deformed femoral head can lead to early hip OA
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60
Q

JIA
What is the criteria for a clinical diagnosis of JIA?

A
  • Onset before 16y with no underlying cause
  • Joint swelling/stiffness
  • > 6w in duration to exclude other causes (i.e. reactive)
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61
Q

JIA
What are the investigations for systemic JIA?

A
  • Antinuclear antibodies (ANA) + rheumatoid factor = NEGATIVE
  • Raised inflammatory markers = CRP/ESR, platelets + serum ferritin
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62
Q

JIA
What is the main complication of systemic JIA?

A
  • Macrophage activation syndrome = severe activation of immune system with massive inflammatory response
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63
Q

JIA
How might enthesitis-related arthritis present?

A
  • Sx of psoriasis (psoriatic plaques, nail pitting, dactylitis) or IBD
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64
Q

JIA
What are the XR features of JIA?

A

Same as RA (LESS) –

  • Loss of joint space
  • Erosions (causing joint deformity)
  • Soft tissue swelling
  • Soft bones (osteopenia)
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65
Q

JIA
What are some complications from JIA?

A
  • Chronic anterior uveitis > severe visual impairment
  • Flexion contractures of joints
  • Growth failure + constitutional problems like delayed puberty
  • Osteoporosis
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66
Q

OSTEOPOROSIS
What are the causes of osteoporosis?

A
  • Inherited = osteogenesis imperfecta, haematological issues
  • Acquired:
    – Drug induced (Steroids)
    – Endocrinopathies (hypoparathyroidism)
    – Malabsorption
    – Immobilisation (disabilities)
    – Inflammatory disorders
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67
Q

OSTEOGENESIS IMPERFECTA
What are some associations with osteogenesis imperfecta?

A
  • 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)
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68
Q

OSTEOGENESIS IMPERFECTA
What are the investigations for osteogenesis imperfecta?

A
  • Clinical Dx with XR to diagnose fractures + bone deformities
  • DEXA scan to look at bone mineral density (osteoporosis)
  • 7 types under the sillence classification
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69
Q

OSTEOGENESIS IMPERFECTA
In the Sillence classification, what is…

i) type 1?
ii) type 2?
iii) types 3–4?

A

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

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70
Q

RICKETS
What are some risk factors for rickets?

A
  • Darker skin (need more sunlight)
  • Lack of exposure to sun
  • Poor diet or malabsorption
  • CKD as kidneys metabolise vitamin D to active form
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71
Q

RICKETS
What are the symptoms of rickets?

A
  • Bone pain, swelling + deformities
  • Muscle weakness + poor growth (gross motor delay)
  • Pathological or abnormal #
  • May have hypocalcaemic convulsions or carpopedal spasm
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72
Q

RICKETS
What are some bone deformities seen in rickets?

A
  • 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)
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73
Q

RICKETS
What are some investigations for rickets?

A
  • Serum biochemistry
  • FBC + ferritin (Fe anaemia), inflammatory markers
  • Kidney, liver + TFTs, malabsorption screen (anti-TTG)
  • Autoimmune + rheumatoid tests
  • XR required to diagnose
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74
Q

RICKETS
What would serum biochemistry show in rickets?

A
  • Low = calcium + phosphate
  • High = ALP + PTH
  • 25-hydroxyvitamin D levels deficient (<25nmol/L)
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75
Q

RICKETS
What might an XR show in rickets?

A
  • Osteopenia (radiolucent bones)
  • Cupping
  • Fraying of metaphyses
  • Widened epiphyseal plate
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76
Q

PSORIASIS
What is the pathophysiology of psoriasis?

A
  • Chronic autoimmune condition where abnormal T-cell activation > hyperproliferation of keratinocytes + so psoriatic skin lesions
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77
Q

PSORIASIS
What is the clinical presentation of psoarisis?

A
  • 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)
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78
Q

PSORIASIS
What is the management of psoriasis?

A
  • 1st line = topical steroids, topical vitamin d analogues (calcipotriol)
  • 2nd line = UV phototherapy
  • 3rd line = immunosuppression with methotrexate or biologics
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79
Q

STEVEN-JOHNSON
What are some potential causes of Steven-Johnson syndrome?

A
  • Meds = AEDs, Abx, allopurinol, NSAIDs
  • Infections = herpes simplex, mycoplasma pneumonia, CMV, HIV
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80
Q

SCOLIOSIS
what are the causes?

A
  • 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
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81
Q

SCOLIOSIS
what conditions can cause scoliosis?

A

cerebral palsy
muscular dystrophy
birth defects
infections
tumours
marfan syndrome
down syndrome

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82
Q

TORTICOLLIS
what are the causes of congenital torticollis?

A
  • 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
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83
Q

TORTICOLLIS
what are the causes of acquired torticollis?

A
  • MSK = muscle spasm
  • infection = URTI, otitis media, dental infection, pharyngeal infection
  • atlantoaxial rotatory fixation
  • inflammation = juvenile idiopathic arthritis
  • neoplasm = CNS tumours
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84
Q

OSGOOD SCHLATTERS
what are the risk factors?

A
  • male gender
  • age - 12-15 in boys, 8-12 in girls
  • sudden skeletal growth
  • repetitive activities such as jumping and sprinting
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85
Q

SEPTIC ARTHRITIS
What are common causes in…
i) infants?
ii) <4y?
iii) >4y?

A

i) GBS, S. aureus, coliforms
ii) S. aureus, pneumococcus, haemophilus
iii) S. aureus, gonococcus (adolescents)

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86
Q

SEPTIC ARTHRITIS
what is the criteria for diagnosing septic arthritis?

A

Kocher’s modified criteria /5, ≥3 is likely
–Temp>38.5
– Raised CRP/ESR/WCC
– Non-weight bearing

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87
Q

JIA
What is the immunology of polyarticular JIA?

A

If rheumatoid factor +ve = seropositive (tend to be older children)

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88
Q

JIA
what is the immunology of oligoarticular JIA?

A

ANA +ve but RF -ve

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89
Q

JIA
What is it associated with?

A
  • HLA-B27 gene
  • Prone to anterior uveitis = ophthalmology referral
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90
Q

JIA
What causes reactive arthritis?

A

Post STI (chlamydia) in older children or Salmonella, Campylobacter

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91
Q

RICKETS
What are some sources of vitamin D?

A

Sunlight, fortified cereals, eggs, oily fish

92
Q

JIA
How does macrophage activation syndrome present?

A
  • Acutely unwell with DIC,
  • febrile,
  • anaemia,
  • thrombocytopenia,
  • bleeding,
  • non-blanching rash,
  • low ESR
93
Q

JIA
What is the management of macrophage activation syndrome?

A

Life-threatening = supportive + steroids

94
Q

BONE TUMOURS
What are some investigations for bone tumours?

A
  • 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
Q

RETINOBLASTOMA
What is a genetic cause of retinoblastoma?
How might it present?

A
  • Retinoblastoma susceptibility gene on chromosome 13 = AD but incomplete penetrance > offer genetic screening
  • All bilateral tumours are hereditary, 20% of unilateral are
96
Q

RETINOBLASTOMA
What are some complications of retinoblastoma?

A
  • Significant risk of second malignancy (especially sarcoma) amongst survivors of hereditary retinoblastoma
97
Q

FANCONI SYNDROME
What is fanconi syndrome?

A
  • 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
Q

FANCONI SYNDROME
What are some causes of fanconi syndrome?

A
  • Usually secondary to inborn errors of metabolism
    – Cystinosis (AR > intracellular accumulation of cysteine, most common)
    – Wilson’s disease, galactosaemia, glycogen storage disorders
99
Q

ANAEMIA OVERVIEW
What is anaemia?
How is it defined in paeds?

A
  • Hb level below the normal range
  • Neonate = <14g/dL
  • 1–12m = <10g/dL
  • 1–12y = <11g/dL
100
Q

ANAEMIA OVERVIEW
What are some causes of decreased red cell production?
What are some clues?

A
  • Ineffective erythropoiesis (Fe, folate deficiency, CKD)
  • Red cell aplasia
  • Normal reticulocytes, abnormal MCV in nutrient deficiencies
101
Q

ANAEMIA OVERVIEW
What are some causes of haemolysis?
What are some clues?

A
  • G6PD deficiency, haemoglobinopathies, hereditary spherocytosis
  • Raised reticulocytes, abnormal appearance on blood films, +ve direct antiglobulin test if immune cause
102
Q

ANAEMIA OVERVIEW
List 4 features of haemolytic anaemias

A
  • Anaemia
  • Hepatosplenomegaly
  • Unconjugated bilirubinaemia
  • Excess urinary urobilinogen
103
Q

ANAEMIA OVERVIEW
What are some causes of anaemia in the neonate?

A
  • 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
Q

ANAEMIA OVERVIEW
What are the main causes of anaemia of prematurity?

A
  • Inadequate erythropoietin production
  • Reduced red cell lifespan
  • Frequent blood sampling whilst in hospital
  • Iron + folic acid deficiency after 2-3m.
105
Q

IRON DEF ANAEMIA
What are some causes of iron deficiency anaemia?

A
  • Inadequate intake = common as infants require additional iron for increasing blood volume
  • Malabsorption = Crohn’s + coeliac
  • Blood loss = common in menstruating females
106
Q

IRON DEF ANAEMIA
What are some sources of iron?
What can affect iron absorption?

A
  • 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
Q

IRON DEF ANAEMIA
What are some signs of iron deficiency anaemia?

A
  • Generic = pallor (inc. conjunctival), tachycardia, tachypnoea
  • Pica = consumption of non-food materials
  • Koilonychia, angular cheilitis, brittle hair + nails
108
Q

IRON DEF ANAEMIA
What are some investigations for iron deficiency anaemia and what would you see?

A
  • 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
Q

IRON DEF ANAEMIA
What is…

i) transferrin saturation?
ii) total iron binding capacity?

A

i) Proportion of transferrin bound to iron
ii) Total space on transferrin for Fe to bind

110
Q

IRON DEF ANAEMIA
What are some side effects of treatment with oral iron supplementation?

A
  • Constipation
  • Black coloured stools
  • Nausea
111
Q

SICKLE CELL DISEASE
What is the genetics behind sickle cell disease?

A
  • Autosomal recessive
  • Abnormal gene for beta-globin on C11
  • Heterozygous = sickle-cell trait
  • Homozygous = sickle cell disease (HbSS)
112
Q

SICKLE CELL DISEASE
What is a severe, classic feature of sickle cell disease?
Common location?
Presentation?
Most severe?

A
  • 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
Q

SICKLE CELL DISEASE
What is acute chest syndrome?
What can cause it?
Management?

A
  • 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
Q

SICKLE CELL DISEASE
Name 2 other vaso-occlusive crises

A
  • ‘Hand-foot syndrome’ common leading to dactylitis
  • Priapism in men > urological emergency, aspiration
115
Q

SICKLE CELL DISEASE
Sickle cell disease may present with acute anaemia (sudden drop in Hb).
What can cause this?

A
  • Haemolytic crises (sometimes with associated infection)
  • Aplastic crises (parvovirus causes cessation of RBC production)
  • Sequestration crises
116
Q

SICKLE CELL DISEASE
What is a sequestration crisis?
What is the management?

A
  • 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
Q

SICKLE CELL DISEASE
What are some investigations for sickle cell disease?

A
  • 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
Q

SICKLE CELL DISEASE
What are some complications of sickle cell disease?

A
  • Short stature + delayed puberty
  • Stroke + cognitive issues
  • Pulmonary HTN
  • Chronic renal failure
  • Psychosocial issues
119
Q

SICKLE CELL DISEASE
What is the general management for sickle cell disease?

A
  • 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
Q

SICKLE CELL DISEASE
What are some potential triggers of vaso-occlusive crises?
How might these be prevented?

A
  • Cold, dehydration, excessive exercise, stress + hypoxia
  • Dress warmly, plenty of drinks
121
Q

SICKLE CELL DISEASE
What is the management of an acute crisis?

A
  • 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
Q

THALASSAEMIA
What is thalassaemia?
Consequence?
What are the 2 types?

A
  • 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
Q

THALASSAEMIA
What happens if there is deletion of 1 or 2 alpha globin chains?

A
  • Alpha thalassaemia trait
  • Often asymptomatic with mild or absent anaemia
  • Red cells hypochromic + microcytic
124
Q

THALASSAEMIA
What happens if there is deletion of 3 alpha globin chains?

A
  • Mild-moderate hypochromic microcytic anaemia + splenomegaly
  • Few patients are transfusion dependent
125
Q

THALASSAEMIA
What happens if there is deletion of all 4 alpha globin chains?

A
  • Alpha thalassaemia major
  • Death in utero with foetal hydrops from foetal anaemia
  • Occurs in families of South-East Asian origin, homozygotes
126
Q

THALASSAEMIA
What is the epidemiology of beta thalassaemia?
What are the three types?

A
  • 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
Q

THALASSAEMIA
What is beta thalassaemia minor?
How does it present?
Differentiate?

A
  • Carriers of abnormally functioning beta-globin gene
  • Mild microcytic + hypochromic anaemia (monitor)
  • Differentiate from Fe deficiency by measuring serum ferritin (normal)
128
Q

THALASSAEMIA
What is beta thalassaemia intermedia?
Management?

A
  • 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
Q

THALASSAEMIA
What is beta thalassaemia major?
How does it present?

A
  • Most severe form with no HbA as abnormal beta globin gene
    • Severe transfusion-dependent anaemia from 3-6m, jaundice, failure to thrive
130
Q

THALASSAEMIA
What is a complication of beta-thalassaemia major which isn’t common in developed countries?

A
  • Extramedullary haematopoiesis can occur if no regular blood transfusions
  • Leads to hepatosplenomegaly + bone marrow expansion leading to maxillary overgrowth + skull bossing
131
Q

THALASSAEMIA
What are some investigations for beta thalassaemia?

A
  • 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
Q

THALASSAEMIA
What is the main complication of thalassaemia?
How might this present?

A
  • 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
Q

THALASSAEMIA
What is the management of thalassaemia?

A
  • 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
Q

HAEMOPHILIA
What are the 2 types of haemophilia?
What causes it?

A
  • 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
Q

HAEMOPHILIA
What are some investigations for haemophilia?

A
  • 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
Q

HAEMOPHILIA
What is the management of haemophilia?

A
  • 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
Q

HAEMOPHILIA
What is a complication of the treatment for haemophilia?

A
  • Formation of antibodies against the clotting factor can render it ineffective
138
Q

VON WILLEBRAND DISEASE
What is the physiological role of von Willebrand factor?

A
  • Facilitates platelet adhesion to damaged endothelium
  • Acts as carrier protein for FVIII:C, protecting it from inactivation + clearance
139
Q

VON WILLEBRAND DISEASE
What is von Willebrand disease (vWD)?
What causes it?
Types?

A
  • 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
Q

VON WILLEBRAND DISEASE
What is the clinical presentation of vWD?

A
  • 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
Q

VON WILLEBRAND DISEASE
What are some investigations for vWD?

A
  • 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
Q

VON WILLEBRAND DISEASE
What is the management of vWD?

A
  • 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
Q

VON WILLEBRAND DISEASE
How is desmopressin given?
What does it do?

A
  • Nasal or s/c
  • Release of vWF + FVIII concentrate
144
Q

COAGULATION DISORDERS
What are acquired disorders of coagulation?

A

Secondary to

  • Haemorrhagic disease of the newborn due to vitamin K deficiency
  • Liver disease as location of clotting factor production
  • ITP + DIC
145
Q

COAGULATION DISORDERS
What can cause vitamin K deficiency?

A
  • Inadequate intake = neonates, long-term chronic illness
  • Malabsorption = coeliac, cystic fibrosis
  • Vitamin K antagonists = warfarin
146
Q

ITP
What are the investigations for ITP?

A
  • FBC shows marked thrombocytopenia
  • May have compensatory megakaryocyte increase in bone marrow
147
Q

ITP
What is the management of ITP?

A
  • Often acute + self-limiting
  • Severe bleeding may need prednisolone, IVIg, blood/platelet transfusions
148
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
what is the clinical presentation?

A
  • 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
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
what are the investigations?

A
  • indirect coombe’s test show antibodies
  • antenatal USS shows hydrops fetalis
  • fetal blood sample
150
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
what is the management in utero?

A
  • transfusion of O negative packed cells cross-matched with maternal blood at 16-18 weeks
151
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
what is the management after delivery?

A

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
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
what are the complications?

A
  • 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
Q

HODGKINS LYMPHOMA
What blood results may you see in someone with Hodgkin’s lymphoma?

A
  • high ESR
  • FBC = anaemia (normochromic normocytic)
  • reed sternberg cells
  • low Hb
  • high serum lactase dehydrogenase
154
Q

AML
What are the risk factors for AML?

A

Preceding haematological disorders
Prior chemotherapy
Exposure to ionising radiation
Down’s syndrome

155
Q

AML
what are the clinical features of AML?

A

Anaemia -> breathlessness, fatigue, pallor
Infection
Hepatosplenomegaly
Peripheral lymphadenopathy
Gum hypertrophy
Bone marrow failure and bone pain

156
Q

AML
What would you expect to see on an FBC and bone marrow biopsy in someone you suspect to have AML?

A

FBC = anaemia and thrombocytopenia and neutropenia

BM biopsy = leukaemic blast cells (with Auer rods)

157
Q

CML
what are the clinical features of CML?

A

Insidious onset

Symptomatic anaemia
Abdominal pain - splenomegaly
Weight loss, tiredness, palor
Gout - due to purine breakdown
Bleeding - due to platelet dysfunction

158
Q

CML
what are the investigations for CML?

A

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
Q

CML
What is the treatment for CML?

A

Chemotherapy
Tyrosine kinase inhibitors, e.g. Imatinib - Given orally
Stem cell transplant

160
Q

CML
Why does the Philadelphia chromosome cause CML?

A

FORMS fusion gene BCR/ABL on chromosome 22 –> tyrosine kinase activity –> stimulates cell division

161
Q

CLL
what are the investigations for CLL?

A

● Normal or low Hb
● Raised WCC with very high lymphocytes
● Blood film – smudge cells may be seen in vitro

162
Q

CLL
What is the treatment for CLL?

A

Watch and wait
Chemotherapy
Monoclonal antibodies, e.g. rituximab
Targeted therapy, e.g. bruton kinase inhibitors (ibrutinib)

163
Q

GENETICS OVERVIEW
What is genomic imprinting + uniparental disomy?
Give an example

A
  • 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
Q

GENETICS OVERVIEW
Explain the process of gonadal mosaicism

A
  • 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
Q

TURNER’S SYNDROME
What are some complications of Turner’s syndrome?

A
  • 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
Q

DUCHENNE’S
What is Duchenne’s muscular dystrophy?

A
  • X-linked recessive chromosome 21 = gene deletion for dystrophin (connects muscle fibres to ECM)
167
Q

DUCHENNE’S
What is the clinical presentation of Duchenne’s muscular dystrophy?

A
  • Proximal muscle weakness from 5y
  • Delayed milestones
  • Waddling gait
  • Gower sign +ve
  • Calf pseudohypertrophy (replaced by fat + fibrous tissue)
168
Q

KLINEFELTER SYNDROME
What is the clinical presentation of Klinefelter syndrome?

A
  • 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
Q

KLINEFELTER SYNDROME
What are some complications of Klinefelter syndrome?

A
  • Increased risk of breast cancer compared to other males
  • Osteoporosis
  • Diabetes
  • Anxiety + depression
170
Q

ANGELMAN’S SYNDROME
What is Angelman’s syndrome?
What is it caused by?

A
  • Genetic imprinting disorder due to deletion of maternal chromosome 15 or paternal uniparental disomy
  • Loss of function of maternal UBE3A gene
171
Q

ANGELMAN’S SYNDROME
What is the clinical presentation of Angelman’s syndrome?

A
  • “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
Q

NOONAN’S SYNDROME
What is Noonan’s syndrome?

A
  • Autosomal dominant condition with defect on chromosome 12, normal karyotype
173
Q

NOONAN’S SYNDROME
What is the clinical presentation of Noonan’s syndrome?

A
  • 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
Q

NOONAN’S SYNDROME
What are some complications of Noonan’s syndrome?

A
  • CHD = pulmonary valve stenosis
  • Cryptorchidism which can lead to infertility (fertility in women normal)
  • LDs, bleeding disorders (XI deficient)
175
Q

WILLIAM’S SYNDROME
What is William’s syndrome?

A
  • Random deletion of genetic material on one copy of chromosome 7 resulting in only single copy of genes from other chromosome 7
176
Q

WILLIAM’S SYNDROME
What is the clinical presentation of William’s syndrome?

A
  • 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
Q

WILLIAM’S SYNDROME
What are some complications of William’s syndrome?

A
  • Supravalvular aortic stenosis
  • ADHD
  • HTN + hypercalcaemia
178
Q

PRADER-WILLI SYNDROME
What is Prader-Willi syndrome?

A
  • Genetic imprinting disorder due to deletion of paternal chromosome 15 or maternal uniparental disomy
179
Q

CONGENITAL HYPOTHYROIDISM
What is the clinical presentation of congenital hypothyroidism?

A
  • Prolonged neonatal jaundice
  • Delayed mental + physical milestones
  • Puffy face, macroglossia + hypotonia
  • Failure to thrive + feeding problems
  • Coarse facies + hoarse cry
180
Q

PUBERTY
Explain the tanner stages for…

i) breast?
ii) pubic hair?
iii) genitalia?

A

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
Q

PRECOCIOUS PUBERTY
What is the pathophysiology and potential causes of central precocious puberty?

A

Pathophysiology: LH++, FSH+ > oestrogen from ovary ++ or testosterone from testis ++ & adrenal +

Causes:
- Familial,
- hypothyroidism,
- CNS (neurofibroma, tuberous sclerosis)

182
Q

PRECOCIOUS PUBERTY
What causes premature pubarche (adrenarche)?
How can you tell?

A
  • 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
Q

PRECOCIOUS PUBERTY
What are the risk factors with premature pubarche (adrenarche)?

A
  • More common in Asian + Afro-Caribbean, increased risk of PCOS later in life
184
Q

CAH
What is the clinical presentation of CAH in females?

A
  • Tall for age, facial hair, absent periods, deep voice + precocious puberty
  • Severe = virilised genitalia (ambiguous), labial fusion + enlarged clitoris
185
Q

CAH
What are some investigations for CAH?

A
  • Monitor growth, skeletal maturity, plasma androgens
  • High metabolic precursor levels of 17alpha-hydroxyprogesterone (used to monitor disease too)
186
Q

CAH
What is the general management of CAH?

A
  • 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
Q

SEXUAL DIFFERENTIATION
What are some causes of sexual differentiation disorders?

A
  • 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
Q

DELAYED PUBERTY
What are some causes of hypogonadotropic hypogonadism?

A
  • 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
Q

DELAYED PUBERTY
What are some causes of hypergonadotropic hypogonadism?

A
  • Chromosomal abnormalities (Turner’s XO, Klinefelter’s 47XXY)
  • Acquired gonadal damage (post-surgery, chemo/radio, torsion)
  • Congenital absence of the testes or ovaries
190
Q

DELAYED PUBERTY
In delayed puberty, what are some causes of…

i) short stature (delayed + short)?
ii) normal stature (delayed + normal)?

A

i) Turner’s, Prader-Willi + Noonan’s
ii) PCOS, androgen insensitivity, Kallmann’s + Klinefelter’s

191
Q

DELAYED PUBERTY
What are some investigations for delayed puberty?

A
  • 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
Q

DELAYED PUBERTY
What are the hormonal tests you would do in delayed puberty?

A
  • Early morning serum gonadotropins (FSH/LH)
  • TFTs
  • GH provocation testing (insulin, glucagon)
  • IGF-1 levels
  • Serum prolactin
193
Q

PICA
what health problems can be caused?

A
  • iron deficiency anaemia
  • lead poisoning
  • constipation or diarrhoea
  • infections
  • intestinal obstruction
  • mouth or teeth injuries
194
Q

PICA
what are the causes?

A
  • developmental problems e.g. autism
  • mental health problems e.g. OCD, schizophrenia
  • malnutrition or hunger
  • stress
195
Q

PICA
how is it diagnosed?

A

eating non-food items and:
- doing so for 1 month
- behaviour is not normal for child’s age
- has risk factors for pica

196
Q

PICA
what are the investigations?

A
  • blood tests - anaemia, lead levels
  • stool tests - parasites
  • x-rays
197
Q

KALLMAN SYNDROME
what are the clinical features?

A
  • hypogonadotropic hypogonadism
  • anosmia
  • synkinesia (mirror-image movements)
  • renal agenesis
  • visual problems
  • craniofacial anomalies
198
Q

ANDROGEN INSENSITIVITY SYNDROME
what is the inheritance pattern?

A

x-linked recessive

199
Q

ANDROGEN INSENSITIVITY SYNDROME
what are the results of hormone tests?

A
  • raised LH
  • normal/raised FSH
  • normal/raised testosterone
  • raised oestrogen
200
Q

ANDROGEN INSENSITIVITY SYNDROME
what is the management?

A
  • bilateral orchidectomy to avoid testicular tumours
  • oestrogen therapy
  • vaginal dilators or vaginal surgery
  • generally patients are raised as female
  • offered support and counselling
201
Q

FRAGILE X SYNDROME
What causes it?

A

Trinucleotide expansion repeat of CGG caused by slipped mispairing = ≤44 normal, 60–200 = premutation carriers, >200 = fragile X

202
Q

PRECOCIOUS PUBERTY
What is the pathophysiology of pseudo precocious puberty?

A

Low LH + FSH as gonadal or extra-gonadal source leads to increased testosterone or oestrogen

203
Q

PRECOCIOUS PUBERTY
What are the causes in females?

A

More common in girls, usually idiopathic or familial, occasionally late presenting CAH

204
Q

PRECOCIOUS PUBERTY
What are the causes in males?

A

Less common, more worrying
– Pituitary adenoma (bilateral testicular enlargement suggests gonadotropin release)
– CAH or adrenal tumour (small testes)
– Gonadal tumour (unilateral testicular enlargement)

205
Q

PRECOCIOUS PUBERTY
What is a genetic cause of precocious puberty?

A

McCune Albright syndrome (café-au-lait, short stature)

206
Q

GONADOTROPIN DEFICIENCY
Give 2 causes of primary hypogonadism

A

Hypergonadotropic hypogonadism

Klinefelter’s Syndrome (47XXY)
Tuner’s Syndrome (45X)

207
Q

GONADOTROPIN DEFICIENCY
What is Hypogonadotropic hypogonadism?

A

Secondary gonadal failure = problem with pituitary
OR
Tertiary gonadal failure = Problem with hypothalamus

208
Q

GONADOTROPIN DEFICIENCY
Give 2 causes of Hypogonadotropic hypogonadism

A
  1. Kallmann’s Syndrome
  2. Tumours - craniopharyngiomas, germinomas
209
Q

HYPOTHALAMIC TUMOURS
what are the risk factors for developing hypothalamic tumours?

A

neurofibromatosis
undergone radiation therapy

210
Q

HYPOTHALAMIC TUMOUR
what is the clinical presentation?

A
  • euphoric ‘high’ sensations
  • failure to thrive
  • headache
  • hyperactivity
  • loss of body fat and appetite
  • vision loss
  • precocious puberty
211
Q

HYPOTHALAMIC TUMOUR
what are the investigations?

A
  • full neurological examination
  • blood tests for CRH, GH, GnRH, TRH, dopamine and somatostatin
  • CT/MRI scan
  • visual field testing
212
Q

PRECOCIOUS PUBERTY
What are the causes of pseudo precocious puberty?

A

Causes:
– Adrenal (tumours, CAH)
– Granulosa cell tumour (ovary)
– Leydig cell tumour (testicular)

213
Q

PRECOCIOUS PUBERTY
What is the management for premature pubarche (adrenarche)?

A

USS of ovaries + uterus with bone age to exclude central precocious puberty

214
Q

CAH
How does salt-losing crisis present?

A

– Vomiting, weight loss, floppiness + circulatory collapse
– Hyponatraemic, hyperkalaemic, metabolic acidosis, hypoglycaemic

215
Q

CAH
What is the management of salt-losing crisis?

A

IV 0.9% NaCl + dextrose,
IV hydrocortisone

216
Q

OBESITY
what are the causes of obesity in children other than lifestyle factors?

A
  • growth hormone deficiency
  • hypothyroidism
  • Down’s syndrome
  • Cushing’s syndrome
  • Prader-Willi syndrome
217
Q

TYPE 1 DIABETES
what are the investigations for a new diagnosis?

A
  • FBC, U+Es, glucose
  • blood cultures
  • HbA1c
  • TFTs + TPO
  • anti-TTG
  • insulin antibodies, anti-GAD + islet cell antibodies
218
Q

TYPE 1 DIABETES
what are the pros and cons of insulin pumps?

A

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
Q

DKA
what is the clinical presentation?

A

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
Q

DKA
what is required to diagnose DKA?

A

Hyperglycaemia (i.e. blood glucose > 11 mmol/l)
Ketosis (i.e. blood ketones > 3 mmol/l)
Acidosis (i.e. pH < 7.3)

221
Q

DKA
what are the principles of DKA management in children?

A
  • 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
Q

DKA
what are the different classifications of DKA?

A

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
Q

DKA
what fluids are given to children not in shock?

A

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
Q

DKA
what are the complications?

A

cerebral oedema
hypokalaemia
aspiration pneumonia
hypoglycaemia

225
Q

CAH
what is a clue in exams that the diagnosis is CAH?

A

skin hyperpigmentation

caused by anterior pituitary producing more ACTH. A by-product of this is melanocyte stimulating hormone which causes more melanin.

226
Q

CAH
what is the presentation of a salt-losing crisis?

A

hyponatraemia
hyperkalaemia
metabolic acidosis

B TO REVISE - PHASE 3A (9 decks)

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