TO REVISE PAEDS Flashcards
1
Q
TOF
What are some risk factors?
A
- Rubella,
- maternal age >40,
- alcohol in pregnancy,
- maternal DM
2
Q
PNEUMONIA
What is the management of pneumonia?
A
- Newborns = IV benzylpenicillin
- Older = co-amoxiclav
- erythromycin to cover for mycoplasma, chlamydia or if unresponsive
3
Q
CYSTIC FIBROSIS
What are some signs of cystic fibrosis?
A
- Low weight or height on growth charts
- Hyperinflation due to air trapping
- Coarse inspiration crepitations ± expiratory wheeze
- Finger clubbing
4
Q
COELIAC DISEASE
What are some complications of coeliac disease?
A
- Anaemias
- Osteoporosis
- Lymphoma (EATL)
- Hyposplenism
- Lactose intolerance
5
Q
CONSTIPATION
What are some causes of constipation?
A
- Usually idiopathic
- Meds (opiates)
- LDs
- Hypothyroidism
- Hypercalcaemia
- Poor diet (dehydration, low fibre)
- Occasionally forceful potty training
6
Q
CONSTIPATION
What is the medical management of constipation?
A
- Movicol
- add senna
- if movicol does not agree then switch to lactulose
7
Q
GASTROENTERITIS
What are signs of clinical shock?
A
- Pale/mottled
- Hypotension
- Prolonged CRT
- Cold
- Decreased GCS
- Sunken fontanelle
- Weak pulses
- Anuria
8
Q
HERNIA
what are the risk factors for developing a hernia?
A
- premature, underweight babies
- male gender
- family history
- medical conditions - undescended testes, CF
- African descent
9
Q
IBD
what is the histology of ulcerative colitis?
A
- Increased crypt abscesses,
- pseudopolyps,
- ulcers
10
Q
NEONATAL HEPATITIS
What is the management of Wilson’s disease?
A
Penicillamine for copper chelation
11
Q
ASTHMA
What is the stepwise management of chronic asthma in <5y? (BTS guidance)
A
- 1 = PRN SABA
- 2 = Low dose ICS OR PO montelukast
- 3 = Other option from 2
- 4 = refer to specialist
12
Q
ASTHMA
What is the stepwise management of chronic asthma >5y? (BTS guidance)
A
- 1 = PRN SABA
- 2 = SABA + low dose ICS
- 3 = SABA + low dose ICS + LABA (only continue if good response)
- 4 = increase ICS dose (?LTRA or PO theophylline)
- 5 = PO steroids in lowest tolerated dose
- May need immunosuppression or immunomodulation therapy with specialist referral
13
Q
RESP PHARMACOLOGY
Give an example of a LABA
A
Salmeterol
14
Q
ASTHMA
What are the stages of management for acute asthma of severe/life-threatening severity in children?
A
- High flow O2 if sats <92%
- Salbutamol inhaler (10 puffs every 2 hours)
- nebuliser with salbutamol and ipratropium bromide
- IV hydrocortisone
- IV Magnesium sulfate
- IV salbutamol
- IV aminophylline
15
Q
FAS
How much alcohol is safe in pregnancy?
What are some features of foetal alcohol syndrome?
A
- None
- Microcephaly
- Short palpebral fissures, hypoplastic upper lip, small eyes, smooth philtrum
- LDs, poor growth + cardiac malformations
- Can have alcohol withdrawal Sx a birth = irritable, hypotonic, tremors
16
Q
PAEDS FLUIDS
What is used for maintenance fluids?
How are they calculated?
A
- 0.9% NaCl + 5% dextrose + KCl 10mmol
- 100ml/kg/day for first 10kg
- 50ml/kg/day for next 10kg
- 20ml/kg/day for every kg after 20kg
- Divide by 24 = ml/hour
17
Q
PAEDS FLUIDS
How can you calculate % dehydration?
How do you calculate fluids to correct dehydration?
A
- (Well weight [kg] – current weight [kg]) ÷ well weight
- % dehydration x 10 x weight (kg)
18
Q
PAEDS FLUIDS
What fluids do neonates require?
What are their intake requirements?
A
- Day 1 = just 10% dextrose
- From day 2 = Na (3mmol/kg/day) + K (2mmol/kg/day)
- Day 1 = 60ml/kg/day
- Day 2 = 90ml/kg/day
- Day 3 = 120ml/kg/day
- Day 4 + beyond = 150ml/kg/day
19
Q
DEVELOPMENTAL DELAY
What are some prenatal causes of developmental delay?
A
- Genetics (Down’s, fragile X)
- Congenital hypothyroidism
- Teratogens (alcohol + drug abuse)
- Congenital infection (TORCH)
- Neurocutaneous syndromes (tuberous sclerosis, neurofibromatosis)
20
Q
DEVELOPMENTAL DELAY
What are some perinatal causes of developmental delay?
A
- Extreme prematurity (intraventricular haemorrhage)
- Birth asphyxia (HIE)
- Hyperbilirubinaemia
- Hypoglycaemia
21
Q
CHILD ABUSE
what are the features of shaken baby syndrome
A
Retinal haemorrhages
Encephalopathy
Subdural haemotoma
22
Q
PAEDIATRIC LIFE SUPPORT
If breathing stimulation fails what is the next stage of neonatal resuscitation?
A
Inflation breaths if gasping or not breathing –
- 2 cycles of 5 inflation breaths
- No response + HR low = 30s of ventilation breaths
- No response, HR <60bpm = chest compressions (3:1 with ventilation breaths)
23
Q
RDS
What are some risk factors of RDS?
A
- Prematurity #1
- Maternal DM
- 2nd premature twin
- C-section
24
Q
NEC. ENTEROCOLITIS
What would an AXR show in necrotising enterocolitis?
A
- Dilated loops of bowel
- Bowel wall oedema (thickened bowel walls)
- Pneumatosis intestinalis (intramural gas)
- Pneumoperitoneum (free gas in peritoneum = perf)
- Football sign = air outlining falciform ligament
- Rigler’s sign = air both inside/outside bowel wall
- Gas in portal veins
25
JAUNDICE
What are some risk factors for jaundice?
- LBW
- Breastfeeding
- Prematurity
- FHx
- Maternal diabetes
26
HIE
What happens as a result of cardiorespiratory depression?
- Hypoxia, hypercarbia + metabolic acidosis
- Compromised cardiac output reduces tissue perfusion > hypoxic ischaemic injury to brain
27
TORCH
What are the characteristic features of toxoplasmosis?
- Cerebral calcification, chorioretinitis + hydrocephalus
28
TORCH
How does syphilis present?
- Rash on soles of feet + hands
- Hutchinson's triad = keratitis, deafness, small + pointed teeth
29
MECONIUM ASPIRATION
What are some risk factors for meconium aspiration?
- Post-term deliveries at 42w
- Maternal HTN or pre-eclampsia
- Smoking or substance abuse
- Chorioamnionitis
30
CLEFT LIP AND PALATE
What is the management of cleft lip + palate?
- MDT = plastic + ENT surgeons, paeds, orthodontist, SALT
- Cleft lip repair ≤3m
- Cleft palate repair 6-12m
31
NEONATAL HYPOGLYCAEMIA
What are some risk factors for neonatal hypoglycaemia?
- Preterm + intrauterine growth restriction (IUGR) = lack of glycogen stores
- Maternal DM = infantile hyperinsulinaemia
- LGA, polycythaemia or ill
- Transient hypoglycaemia common in first hours after birth
32
LISTERIA INFECTION
what is the clinical presentation?
symptoms are similar to sepsis - listlessness, irritable, poor feeding
- Early onset = low birth weight, obstetric complications, evidence of sepsis soon after birth
- late onset = usually full-term, previously healthy neonates, present with meningitis/sepsis
33
LISTERIA INFECTION
what is the management?
ampicillin + aminoglycoside (gentamycin)
34
EPILEPSY
Who is juvenile myoclonic epilepsy more common in?
How does it present?
Management?
- Teens, F>M
- Infrequent generalised seizures (often morning), daytime absences, sudden shock-like myoclonic seizures (can happen before seizures)
- Good response to valproate
35
PERIORBITAL CELLULITIS
what is the management?
Mild = oral co-amoxiclav/cefuroxime + metronidazole for 7-10 days
Moderate-severe = immediate referral to hospital + IV cefotaxime/clindamycin
can also consider incision, drainage and culture of any abscesses
36
PROTEINURIA
What are some causes of proteinuria?
- Transient (febrile illness, after exercise = no investigation)
- Nephrotic syndrome
- HTN
- Tubular proteinuria
- Increased glomerular perfusion pressure
- Reduced renal mass
37
NEPHROTIC SYNDROME
What are some complications of nephrotic syndrome?
- Hypovolaemia as fluid leaks from intravascular to interstitial space
- Thrombosis due to loss of antithrombin III
- Infection due to leakage of immunoglobulins, weakening the immune system + exacerbated by Tx with steroids
38
HSP
What is the clinical presentation of HSP?
- Palpable purpuric rash affecting extensor surfaces of lower limbs + buttocks
- Joint pain (knees + ankles, may be swollen + painful, reduced ROM)
- Colicky abdo pain (GI haemorrhage > haematemesis + melaena, intussusception)
- Renal involvement (IgA nephritis > haematuria + proteinuria)
39
HSP
What are some investigations for HSP?
- Exclude DDx of non-blanching rash
– FBC + blood film (thrombocytopenia, sepsis + leukaemia), CRP, cultures, HSP = afebrile
- Urinalysis for proteinuria + haematuria
- PCR to quantify proteinuria
- Renal biopsy if severe renal issues to determine if Tx
40
HAEMOLYTIC URAEMIC SYNDROME
What is the classic HUS triad?
- Microangiopathic haemolytic anaemia (due to RBC destruction)
- AKI (kidneys fail to excrete waste products like urea)
- Thrombocytopenia
41
HAEMOLYTIC URAEMIC SYNDROME
What are some investigations for HUS?
- FBC (anaemia, thrombocytopenia), fragmented blood film
- U+Es reveal AKI
- Stool culture
42
HYPOSPADIAS
What is the clinical presentation of hypospadias?
- Ventral urethral meatus
- Hooded prepuce
- Chordee (ventral or downwards curvature of the penis in more severe forms)
- Usually identified during NIPE
43
UTI
What are some risk factors for UTI?
- Incomplete bladder emptying
- Vesico-ureteric reflux
- Structural abnormality (horseshoe kidney, ureteric strictures)
- Inadequate toilet hygiene
44
UTI
In terms of performing ultrasounds scans in UTI, what are the guidelines?
- USS within 6w if 1st UTI + <6m but responds well to Tx within 48h or during illness if recurrent or atypical bacteria
45
ACUTE KIDNEY INJURY
What are some renal causes of AKI?
- Vascular = HUS, vasculitis, embolus)
- Glomerular = glomerulonephritis
- Interstitial = interstitial nephritis, pyelonephritis
- Tubular = acute tubular necrosis
46
ACUTE KIDNEY INJURY
What are some investigations for AKI?
- FBC, U+Es (high urea), high creatinine, USS to identify if obstruction
- Can have hyperkalaemia, hyperphosphataemia + metabolic acidosis
47
CHRONIC KIDNEY DISEASE
What is the management of CKD?
- Diet + NG or gastrostomy feeding may be needed for normal growth
- Phosphate restriction + activated vitamin D to prevent renal osteodystrophy
- May need recombinant growth hormone
- Recombinant erythropoietin to prevent anaemia
- Dialysis + transplantation if in ESRF (GFR <15ml/min/1.73m^2)
48
UTI
What is the management of children under 3m in UTI?
ALL children <3m + fever get immediate IV cefuroxime + full septic screen (blood cultures, FBC, CRP lactate, LP etc)
49
UTI
What is the management of UTI for >3m with lower UTI?
3d PO trimethoprim, nitrofurantoin, amoxicillin or cephalosporin with follow-up if still unwell after 24-48h
50
NEPHROTIC SYNDROME
What is the pathophysiology of nephrotic syndrome?
1. Inflammation – from immune cells (Ab’s, Ig’s - IgG), complement proteins, HTN, atherosclerosis, medications/immunisations, infection
2. Damage to podocytes – protein leakage (albumin, Ab’s)
3. Increased liver activity – to increase albumin, - Consequential increase in cholesterol + coagulation factors
4. Reduced oncotic pressure – oedema - Consequential blood volume decrease, RAAS stimulation, exacerbation
51
PYELONEPHRITIS
what are the risk factors?
- vesicoureteral reflux (VUR) = most common + most important
- previous history of UTI
- siblings with a history of UTI
- female sex
- indwelling urinary catheter
- intact prepuce in boys
- structural abnormalities of the kidneys and lower urinary tract
52
NOCTURNAL ENURESIS
what are the causes?
- not waking to bladder signals
- inadequate levels of vasopressin (ADH)
- overactive bladder
- constipation
- UTIs
- Family history
- Anxiety/stress
- poor bedtime routines
53
OTITIS MEDIA
Which antibiotics are used?
1st line = amoxicillin
alternatives = erythromycin or clarithromycin
54
OTITIS MEDIA
What are the bacterial causes of otitis media?
S. Pneumoniae
H. Influenzae
M. Catarrhalis
S. Pyogenes
55
MENINGITIS
What is the management of bacterial meningitis?
- 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)
56
ALLERGY
What is an allergy?
Give examples
- Hypersensitivity reaction initiated by specific immunoglobulins
- Food allergy, eczema, allergic rhinitis, asthma, urticaria, insect sting, drugs, latex + anaphylaxis
57
ALLERGY
Define hypersensitivity
Objectively reproducible symptoms/signs following a defined stimulus at a dose tolerated by a normal person
58
IMMUNE DEFICIENCY
What are some investigations for immune deficiency?
- FBC (WCC, lymphocytes, neutrophils)
- Blood film
- Complement
- Immunoglobulins
59
DIPHTHERIA
what is the management for close-contacts?
prophylactic antibiotics - erythromycin
diphtheria toxoid immunisation
60
GLANDULAR FEVER
What are the complications of glandular fever?
- Splenic rupture,
- haemolytic anaemia,
- chronic fatigue,
- EBV associated with Burkitt's lymphoma
61
ALLERGY
Define atopy
Personal/familial tendency to produce IgE in response to ordinary exposures to allergens (triad = eczema, asthma + rhinitis)
62
ALLERGY
Give an example of a type 2 hypersensitivity reaction
- autoimmune disease,
- haemolytic disease of newborn,
- transfusion reaction
63
ALLERGY
Give an example of a type 3 hypersensitivity reaction
- SLE,
- RA,
- HSP,
- post-strep glomerulonephritis
64
ALLERGY
Give an example for of a type 4 hypersensitivity reaction
- TB,
- contact dermatitis
65
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
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
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
68
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)
69
RICKETS
What might an XR show in rickets?
- Osteopenia (radiolucent bones)
- Cupping
- Fraying of metaphyses
- Widened epiphyseal plate
70
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
71
TONSILLITIS
| What is the management of tonsillitis?
- 1st line = Phenoxymethylpenicillin
- if penicillin allergic = erythromycin
| - Tonsillectomy last resort if quinsy (in 6w), recurrent severe (≥5/year) or OSA
72
INTESTINAL MALROTATION
| What is the investigation + management of intestinal malrotation?
- Urgent upper GI contrast study is Dx, abdo USS
| - Urgent surgical correction = Ladd's procedure rotates bowel anti-clockwise
73
FUNCTIONAL DYSPEPSIA
| What is the management of functional dyspepsia?
- C-13 Urea breath test for H. pylori + upper GI endoscopy if Sx recur, if normal = Dx
- Hypoallergenic diet
- Eradicate H. pylori if suspected with triple therapy > omeprazole, amoxicillin + metronidazole or clarithromycin
74
DIABETES MELLITUS
| What is the physiology of insulin?
- Lowers blood glucose by stimulating uptake from blood into muscle, kidney + fat cells as well as targeting the liver to convert glucose to glycogen
75
DIABETIC KETOACIDOSIS
| How does the body respond to ketoacidosis?
- Initially, kidney produces bicarbonate to counteract but this is used up > acidotic
- Hyperglycaemia overwhelms the kidneys + glucose starts being filtered into the urine + draws water out with it in the process (osmotic diuresis) leading to polyuria + severe dehydration, stimulating thirst centre (polydipsia)
76
DIABETIC KETOACIDOSIS
| What are some complications of DKA?
- Cerebral oedema (neuro obs)
- VTE
- Hypokalaemia > arrhythmias
- AKI
77
IV HAEMORRHAGE
| What is the management of intraventricular haemorrhage?
- Cranial USS
- Sx relief with removal of CSF by LP or ventricular tap
- Ventriculoperitoneal shunt may be needed for hydrocephalus
78
SIDS
| What are some major risk factors for SIDS?
- Baby sleeping prone
- Parental smoking (during pregnancy or in same room)
- LBW + prematurity
- Sharing a bed
- Hyperthermia (over wrapping) or head covering (blanket moving)
79
NUTRITION
| What are the advantages of breastfeeding?
- Free
- Helps bonding
- Lactational amenorrhoea
- Reduces risk of NEC in preterm infants + SIDS
- Antibodies to protect neonate against infection
- Reduced maternal risk of breast + ovarian cancer
80
NUTRITION
| What are the disadvantages of breastfeeding?
- Breast milk jaundice
- Unknown intake so ?eating adequately
- Discomfort for mother
- Transmission of drugs or infections to baby
- Insufficient vitamin D + K (reason for vitamin K IM injection at birth)
81
HEAD LICE
| What is the management of headlice?
- Dimeticone 4% or malathion 0.5% lotions, leave overnight then wash off (repeat 7d later to kill any head lice hatched since)
- Special fine combs + wet combing (bug-busting) every 3–4d for 2w
82
ANAEMIA OVERVIEW
List 4 features of haemolytic anaemias
- Anaemia
- Hepatosplenomegaly
- Unconjugated bilirubinaemia
- Excess urinary urobilinogen
83
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.
84
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)
85
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
86
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
87
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
88
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
89
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
90
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
91
ALL
What do blood and bone marrow tests show in ALL?
FBC and blood film = WCC usually high
Blast cells on film and in bone marrow
92
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)
93
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
94
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
95
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
96
NOONAN'S SYNDROME
What is Noonan's syndrome?
- Autosomal dominant condition with defect on chromosome 12, normal karyotype
97
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
98
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
99
WILLIAM'S SYNDROME
What are some complications of William's syndrome?
- Supravalvular aortic stenosis
- ADHD
- HTN + hypercalcaemia
100
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
101
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)
102
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)
103
KALLMAN SYNDROME
what are the clinical features?
- hypogonadotropic hypogonadism
- anosmia
- synkinesia (mirror-image movements)
- renal agenesis
- visual problems
- craniofacial anomalies
104
ANDROGEN INSENSITIVITY SYNDROME
what is the inheritance pattern?
x-linked recessive
105
ANDROGEN INSENSITIVITY SYNDROME
what are the results of hormone tests?
- raised LH
- normal/raised FSH
- normal/raised testosterone
- raised oestrogen
106
FRAGILE X SYNDROME
What causes it?
Trinucleotide expansion repeat of CGG caused by slipped mispairing = ≤44 normal, 60–200 = premutation carriers, >200 = fragile X
107
CAH
How does salt-losing crisis present?
– Vomiting, weight loss, floppiness + circulatory collapse
– Hyponatraemic, hyperkalaemic, metabolic acidosis, hypoglycaemic
108
CAH
What is the management of salt-losing crisis?
IV 0.9% NaCl + dextrose,
IV hydrocortisone
109
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)
110
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
111
DKA
what are the complications?
cerebral oedema
hypokalaemia
aspiration pneumonia
hypoglycaemia
