Paediatrics 2 Flashcards
1
Q
Why is it important to investigate UTI’s thoroughly in children
A
Potential for structural abnormalities in the urinary tract and scarring of the kidneys if pyelonephritis develops
2
Q
Common causative organisms for UTI
A
E.Coli, Klebsiella, Proteus, Pseudomonas
3
Q
Clinical presentation of UTI
A
Infants: Fever, vomiting, lethary, poor feeding, jaundice, septicaemia, smelly urine and febrile convulsions
Older children: Dysuria, Abdo pain, fever, lethargy, D+V, haematuria, Smelly/cloudy urine
4
Q
Ix for UTI
A
Clean catch urine sample
Older: midstream urine
USS KUB
5
Q
Tx for UTI
A
Abx - IV for under 3mo e.g. Cefotaxime
6
Q
What does an atypical UTI present with?
A
Seriously ill/septic, Poor urine flow, abdo mass, raised creatinine, Failure ot respond to Abx after 48 hours, Infection with non E.coli
7
Q
Ix for atypical UTI
A
US for abnormalities, potential DMSA and MCUG to look for scarring and vesicoureteric reflux
8
Q
What is vesicoureteric reflux
A
Developmental abnormality where the ureters are displaced and enter directly into the bladder rather than at an angle causing reflux of urine into the renal pelvis which can cause scarring with a UTI
9
Q
UTI prevention
A
High fluid intake, Regular voiding, complete emptying, Prevention/treatment of constipation, prophylactic ABx
10
Q
Causes of nocturnal eneuresis
A
Genetic delay in sphincter competence, stress are secondary
Underlying disorders: UTI, Faecal retention, Polyuria from osmotic diuresis
11
Q
Management of nocturnal eneuresis
A
Explain that its common and beyond conscious control
Star charts
Eneuresis alarm which sounds when bed is wet to awaken child
Desmopressing to provide short term relief
12
Q
Nephrotic syndrome diagnostic criteria
A
Oedema
Hypoalbuminaemia <25g/l
Proteinuria with 3+/4+ on dip or a urine protein:creatinine ratio of >200mmg/mol
13
Q
Aetiology of Nephrotic
A
Primary: Idiopathic e.g. minimal change disease
Secondary: HSP, SLE
14
Q
Clinical presentation of nephrotic
A
Periorbital oedema
Scrotal, vulval, leg and ankle oedema
Ascited
SOB due to effusion and abdo distension
15
Q
Ix for nephrotic
A
Urine dip
Urine protein:creat
Urine micro
Urine cultures
Bloods - FBC, U+E, albumin and bone profile
16
Q
Management of nephrotic syndrome
A
Corticosteroids - Pred and reduce over time
Diueretics - furosemide
Diet with reduced salt
Pneumococcal immunisation
17
Q
Explain steroid resistant nephrotic
A
Common in asian boys
Can lead to hypovolaemia, thrombosis, infection and hypercholesterolaemia
Can progress to renal failure
Some respond to cyclophosphamide, tacrolimus or rituximab
Causes include focal segmental glomerulosclerosis and membranous nephropathy
18
Q
Triad of Sx in Nephritic syndrome
A
Reduced kidney function, Haematuria and Proteinuria
19
Q
Post strep glomerulonephritis patho
A
Occurs 1-3 weeks after B-haem strep infection such as tonsilitis
Immune complexes made up of strep antigens, antibodies and complement proteins lodged in glomeruli then cause inflam and AKI
20
Q
IgA Nephropathy Patho
A
Related to HSP, IgA deposits in nephrons cause inflam
21
Q
Ix for Nephritic
A
Urine micro
Protein and calcium excretion
KUB US
Bloods: FBC, U+E and Creatinine
22
Q
Management of nephritic
A
Supportive
Diuretics and antihypertensives
Immunosuppressant meds such as steroids
23
Q
What is Hypospadias
A
Condition affecting males where the urethral meatus us abnormally displaced to underside of penis towards scrotum
24
Q
Management of hypospadias
A
Surgery at 3-4 mo to correct position
25
Aetiology of AKI
Prerenal: most common cause in children, hypovolaemia caused by infection such as gastroent, burn, sepsis, haemorrhage or nephritic
Renal: HUS, vasculitis, renal vein thrombosis, acute tubular necrosis, glomerulonephritis, pyelonephritis
Post-renal: Obstructions such as posterior urethral valves, blocker catheters
26
Management of AKI
Regular monitoring of fluid balance and circulation
US to find obstruction
Treatment depending on cause e.g. fluid replace, asses site of obstruction, renal biopsy
Dialysis in severe cases
27
Triad in HUS
Acute renal failure, microangiopathic anaemia, thrombocytopenia
28
HUS cause
Secondary to GI infection, contact with farm animals or eating uncooked beef
29
Pathophysiology of HUS
Toxin enter HI mucosa and localises to the endotheliak cells in the kidney causing activation of clotting cascade and consumption of platelets. Anaemia is caused by damage to RBC as they circulate
30
Clinical presentation of HUS
Reduced urine, Haematuria, Abdo pain, Lethary and irritable, Confused, Oedema, HTN
31
Management of HUS
Early supportive therapy including dialysis, Anti hypertensives, Carely fluid balance, blood transfusion
32
How is CKD defined
eGFR of < 15ml/min
33
Aetiology of CKD
Structural Malformations, glomerulonephritis, hereditary nephropathies, systemic disease
34
Clinical presentation of CKD
Anorexia and lethargy, Polydip and polyuria, Faltering growth, HTN, Acute-on-chronic renal failure, Incidental proteinuria
35
Management of CKD
Feed, Phosphate restrict and activated Vit D, Bicarb, EPO, Growth hormone, Dialysis and transplant if needed
36
What is Leukaemia
Cancer of the stem cells in the bone marrow
37
38
What are the most common types of Leukaemia in children and what ages are affected
ALL - Most common in children - peaks ages 2-3
AML - next most common - peaks aged 2 years and under
CML - very rare
39
RF for Leukaemia
Downs, Kleinfelters, Radiation exposure during pregnancy, Noonans
40
Clinical presentation of Leukaemia
Fatigue, unexplained fever, faltering growth, Weight loss, night sweats, anaemia, Petechiae and abnormal bruising, Abdo pain, Generalised lymphadenopathy, Hepatosplenomegaly
41
Ix for Leukaemia
NICE: any child with unexplained Petechiae or hepatomegaly be referred
FBC: Anaemia, Leukopenia, thrombocytopenia
Blood film: blast cells
Bone marrow biopsy is definitive
42
Tx for Leukaemia
Chemo, potential radiotherapy and bone marrow transplant
43
What is the leading cause of childhood cancer deaths in the UK
Brain tumours, they are almost always primary
44
Explain the five types of brain tumours that present in children
Astrocytoma - varies from malignant to benign
Medulloblastoma - arises in the midline of the posterior fossa and may seed through the CNS via the CSF giving spinal mets
Ependymoma - mostly in posterior fossa where it behaves like a medulloblastoma
Brainstem glioma
Craniopharyngioma - developmental tumour arising from an embryological remnant
45
Clinical presentation of brain tumours
Raised ICP - Headache worse on waking, coughing, straining and bending forward and papilloedema
Focal neuro signs
Back pain, peri weakness, bladder/bowel dysfunction
46
Ix for brain tumour
MRI
47
Tx for Brain tumour
Surgery
Chemo and radio depending on type and age
48
What is a neuroblastoma
Tumour arising from neural crest tissue in the adrenal medulla and sym nervous system
49
Neuroblastoma epidemiology and prognosis
Occurs before age 5
very good prognosis - over 80% are cured
50
Clinical presentation of Neuroblastoma
Abdo mass, Pallor, Weight loss, Hepatomegaly, Bone pain, Limp, Cervical lymphadenopathy, Periorbital bruising, Skin nodules
51
Ix for Neuroblastoma
Raised urine catecholamine levels
Biopsy
Bone marrow sampling
52
Management of Neuroblastoma
Surgery
Metastatic - chemo, surgery and radiation
53
What is a Wilms tumour
Origin in embryonic tissue, most common renal tumour of childhood, presents before the age of 5
54
Clinical presentation of Wilms tumour
Large abdo mass, Abdo pain, Anorexia, Haematuria, HTN
55
Ix for Wilms tumour
CT/MRI show renal mass
56
Tx for Wilms tumour
Chemo followed by delayed nephrectomy
57
What are the two types of bone tumour seen in children
Ewings sarcoma and osteogenic sarcoma
58
Clinical presentation of bone tumours
Persistent, localised bone pain
59
Ix for bone tumours
Plain X-ray then an MRI and bone scan
Bone XR - destruction and variable periosteal new bone formation with Ewings and often substantial soft tissue mass (onion skin appearance)
CT - for lung mets
60
Tx for Bone cancer
Combo chemo and then surgery
Ewings - radio
61
What is retinoblasotma
Malignant tumour of retinal cells
62
Retinoblastoma heritability
Bilateral tumours are hereditary
Chromosome 13 with dominant inheritance
63
Clinical presentation of retinoblastoma
White pupillary reflex replaces the red one
Squint
64
Ix for Retinoblastoma
MRI and exam under anaesthetic
65
Tx for Retinoblasotma
Aim to cure but preserve vision
Chemo to shrink tumour and then local laser treatment
Most are cured but risk of visual impairment and secondary malignancy
66
Summarise hepatoblastoma
Primary malignant liver tumour
Abdo distension
Elevated a-fetoprotein
Tx: Chemo, surgery, Liver transplant
Prognosis: good
67
ADHD pathophysiology
altered dopamine levels, structural and functional brain changes, genetic component
68
Aetiology of ADHD
More common in boys
50% have a comorbid ASD, dyslexia or depression/anxiety
69
Clinical presentation of ADHD
Inattention - Dont complete instruction, doesnt engage in intense tasks, easily distracted, difficulty organising, forgetful, loses things
Hyperactivity/Impulsivity - cannot play quietly, talks excessively, Doesn't wait their turn, always on the go, interrupts others
70
Ix for ADHD
Conners questionnaire, School observation, Home visit and info from relatives
71
Tx for ADHD
Non-Medical - Care plans, CBT and Behavioural strategies
Medical - Methylphenidate
Lisdexafetamine
Dexamfetamine
72
SE of Methylpenidate
Cardiotoxic so do an ECG
73
What is autism spectrum disorder
Neurodevelopmental disorder that impacts social interaction, communication and behaviour
74
Aetiology of ASD
Genetic with multi gene involvement, structural changes in brain
75
Clinical presentation of ASD
Abnormal social interaction - Poor eye contact, play alone, uninterested in social interaction, difficulty forming close relationships
Impaired social communication - failure to develop spoken language, failure to initiate conversation, abnormal rhythm, pitch and tone
Repetitive ideas: need for routine, motor mannerisms: repetitive movements, sensory issues: only eat certain foods, don't like loud noises
76
Diagnosis of ASD
Lack of social attachments, abnormal/delayed expression, abnormal symbolic play
77
Management of ASD
Education care plans, Applied behaviour analysis, Family support and MDT approach
78
Kleinfelter syndrome genetics
Additional X chromosome for men making 47 XXY
79
Clinical presentation of Klinefelters
Taller, Wide hips, Gynaecomastia, Weaker muscles, Small testicles, reduced libido, shyness, infertility, suble learning difficulties
80
Tx for Klinefelters
Testosterone injections, Advanced IVF, Breast reduction surgery, MDT input for speech, language and muscles
81
Complications of Klinefelters
Increased breast cancer risk, osteoporosis, diabetes and anxiety
82
Turners syndrome genetics
When a female has a single X chromosome making them 45 XO
83
Clinical presentation of Turners
Short, webbed neck, widely spaced nipples with broad chest, high arching palate, downward sloping with ptosis, underdeveloped ovaries with reduced function, late or incomplete puberty, most are infertile
84
Conditions associated with Turners
Recurrent otitis media, Recurrent UTI, Hypothyroidism, Hypotension, Obesity, Diabetes
85
Tx for Turners
Growth hormone therapy, Oestrogen and prog to help establish female sex characteristics, menstrual cycle and prevent osteoporosis
86
Downs syndrome genetics
3 copies of chromosome 21 - trisomy 21
87
Clinical presentation of Downs
Hypotonia, small head with flat back, short neck, short statute, flattened face and nose, low set ears, single palmar crease, Prominent epicanthic folds, upward sloping palpebral fissures
88
Testing for Downs
Antenatal - offered as a screening where further tests take place if necessary
Combined test - 11-14 weeks of gestation and combines US results looking at thickness on the back of the neck of the foetus (thickened) and beta-HCG (raised) and PAPPA (reduced)
Triple test - 14-20 w and looks at beta-HCG (raised), AFP (low) and serum oestriol (low)
Quadruple test - same as triple test but includes Inhibin-A (high)
89
Tx for Downs
MDT approach and regular screening includes echo, thyroid checks, eye checks and audiometry
90
Complications of Downs
Learning disability, Recurrent otitis media, Deafness, Visual problems like strabismus, Hypothyroid, Cardiac defects e.g. ASD,VSD, Leukaemia, dementia
91
What is Noonans
Autosomal genetic condition
92
Clinical presentation of Noonans
Short, Broad forehead, Downward sloping eyes with ptosis, wide space between eyes, low set ears, webbed neck, wide spaced nipples
93
Conditions associated with Noonans
Congenital heart disease (pul sten, hypertrophic cardiomyopathy, ADD), Undescended testes and infertility in males, learning disability, Bleeding disorders, Increased leukaemia risk
94
Tx for Noonans
Supportive MDT care
Corrective heart surgery
95
What mutation causes fragile X syndrome
Mutation in the FMR1 gene on the X chromosome which codes for fragile X mental retadation protein
96
Inheritance pattern for fragile X
X linked
97
Clinical presentation of fragile X syndrome
Delay in speech and language development, intellectual disability, long narrow face, large ears, large testicles, hypermobile joints, ADHD, autism, seizures
98
Management of fragile X
Supportive, symptomatic tx and treat complications
99
Prader willi mutations
loss of genes on proximal arm of chromosome 15
100
Clinical presentation of prader willi
Constant insatiable hunger, hypotonia, learning disability, fairer softer skin that is prone to bruising, mental health issues, dysmorphic features, narrow forehead, almond shaped eyes, strabismus, thin upper lip, hypogonadism
101
Management of prader willi
dietician for weight control, growth hormone, mental health input
102
Angelman syndrome mutation
Loss of function of the UBE3A gene caused by deletion on chromosome 15
103
Clinical presentation of Angelman syndrome
delayed development, absence of speech development, fascination with water, happy demeanour, wide spaced teeth, inappropriate laughter, abnormal sleep patterns, epilepsy, ADHD, Dysmorphic features, fair skin light hair blue eyes
104
Management of Angelmans
MDT approach
105
William syndrome mutation
Deletion of epigenetic material on one copy of chromosome 7
106
Clinical presentation of William syndrome
Broad forehead, Starburst eyes, Flattened nasal bridge, very sociable, wide spaced teeth and mouth, small chin
107
Management of William syndrome
MDT approach
108
Complications of Williams
Supravalvular aortic stenosis, ADHD, HTN, Hypercalcaemia
109
Edwards syndrome mutation
Trisomy 18
110
Clinical presentation of Edwards syndrome
Low birthweight, small mouth and chin, short sternum, flexed overlapping fingers, rocker bottom feet, cardiac and renal malformation
111
Patau syndrome mutation
Trisomy 13
112
Clinical presentation of Pataus
Structural brain defects, scalp defects, eye defects, cleft lip and palate, polydactyly, cardiac and renal malformations
113
Duchennes muscular dystrophy mutation
deletion on short arm of X
114
Clinical presentation of Duchennes
Waddling gait, slow running, language delay, Gowers sign (need to turn prone to rise from floor), Pseudohypertrophy of the calves as the muscular tissue is replaced by fat/fibrous tissue, slower and clumsier, cant walk by 10-14 years of age
115
Management of Duchennes
Exercise, night splints and passive stretching, Good sitting posture, Corticosteroids
116
What is Becker Muscular Dystrophy
Some functional dystrophin is produced so its similar to DMD but progresses slower
117
What is Osteogenesis Imperfecta
Autosomal dom condition that results in brittle bones, affects formation of collagen,
118
Clinical presentation of osteogenesis imperfecta
Recurrent and inappropriate fractures, blue/grey sclera, hypermobile, triangular face, deafness from early adulthood, dental issues, bone deformaties
119
Ix for Osteogenesis Imperfecta
Clinical, X rays are useful, genetic testing rarely
120
Management of Osteogenesis Imperfecta
Bisphosphonates to increase bone density, Vit D supplementation, Physio and Occupational health support, manage fractures
121
What is rickets
Condition where theres defective bone mineralisation causing soft and deformed bones
122
Aetiology of rickets
vit D def, Calcium def, Hereditary hypophospatemic rickets
123
Rf for rickets
Darker skin, low sunlight, colder climates, indoors
124
Clinical presentation of rickets
Lethargy, bone pain, poor growth, dental issues, muscle weakness
125
Bone deformities in rickets
Bowing of the legs, Knock knees, rachitic rosary (end of ribs expand at costochondral junctions causing lumps along chest), Craniotabes (soft skull delayed closure and frontal bossing), delayed teeth
126
Ix for rickets
Serum 25-hydroxyvitamin D - <25 nmol/L
Xray, Serum cal and phos, Serum ALP and PTH (high), Full panel
127
Tx for rickets
Prevention is best, Treat children with ergocalciferol, give vit d and calcium supplements
128
What is transient synovitis
Irritable hip - most common cause of hip pain in children 3-10 yo
Temporary irritation and inflammation in the synovial membrane often associated with viral URTI
129
Clinical presentation of Transient synovitis
Sx within a few weeks of viral infection, Limp, refusal to bear weight, groin or hip pain, mild low grade temp, otherwise well
130
Tx for transient synovitis
Symptomatic, exclude other ddx particularly septic arthritis, good prognosis
131
What is septic arthritis
Infection inside a joint - most common in under 4's
132
Septic arthritis causative organisms
S.aureus, Neisseria gonorrhoea, Group A strep, Hib, E.Coli
133
Clinical presentation of septci arthritis
Admission to hospital with involvement of orthopaedics
Aspirate joint and do gram stain, crystal micro, MC&S
Empirical IV ABx followed by specific
Surgical drainage
134
What is osteomyelitis
Infection of the bone and bone marrow - typically in the metaphysis of the long bones
135
Osteomyelitis causative organism
S.Aureus
136
RF for Osteomyelitis
Males under 10, Open bone fracture, Ortho surg, Immunocompromised, Sickle cell, HIV, TB
137
Clinical presentation of OSteomyelitis
Fever, Refuse to weight bear, Pain, swelling, tender
138
Ix for Osteomyelitis
XRay 1st line, MRI is gold, Bloods (CRP, ESR,WBC), Blood cultures, bone marrow aspirate
139
Tx for Osteomyelitis
Extensive and prolonged Abx, Surgery for drainage and debridement
140
What is Perthes disease
Disruption of the blood flow to the femoral head causing avascular necrosis of the bone - affects epiphysis of the femur
141
Perthes epidemiology
5-8 yo boys
142
Clinical presentation of Perthes
Slow onset pain in hip or groin, limp, restricted hip movement, referred pain to the knee, no hx of trauma
143
Ix for Perthes
XR (can be normal), Bloods, technetium bone scan, MRI
144
Tx for Perthes
Conservative (bed rest, traction, analgesia and crutches), Physio, Regular XR, Surgery in severe cases
145
What is a slipped femoral epiphysis
Head of femur is displaced along the growth plate, More common in males aged 8-15, more common in obese children
146
Clinical presentation of slipped femoral epiphysis
Adolescent obese male undergoing growth spurt, Hx of minor trauma, Hip groin or knee pain, restricted ROM hip, Painful limp, wanting to keep hip in external rotation
147
Ix for slipped femoral epiphysis
XR, Blood test, CT/MRI
148
Tx for slipped femoral epiphysis
Surgery to return femoral head to the right position
149
What is osgood-schlatter disease
Inflammation of the tibial tuberosity where the patellar ligament inserts, common cause of anterior knee pain
150
Clinical presentation of osgood-schlatter disease
Gradual onset, visible or palpable hard and tender lump at tibial tuberosity, pain in anterior aspect of knee, pain is worse with exercise, kneeling or extension
151
Tx for osgood-schlatter
Reduce physical activity, Ice, Nsaids, Stretching physio
152
What is developmental dysplasia of the hip
Structural abnormality in the hips caused by abnormal development of the foetal bones leading to instability and tendency for dislocation
153
RF for developmental dysplasia of the hip
FHx, Breech presentation from 36 w onwards, breech at birth if 28 w onwards, multiparity
154
Screening for dev dysplasia of the jip
NIPE exam:
different leg lengths
restricted hip abduction on one side
significant bilateral restriction in abduction
Difference in knee level when hips are flexed
clunking of the hips on special tests (Ortolani and barlow)
155
Ix for dev dysplasia of the hip
US
XR
156
Tx for dev dysplasia of the hip
Pavlik harness is less than 6 mo old
surgery
157
What is juvenile idiopathic arthritis
Autoimmune inflammation in the joints, arthritis without other known cause under 16 yo
158
Clinical presentation of Systemic JIA
Subtle salmon-pink rash, high swinging fever, lymph swelling, weight loss, joint pain and inflam, splenomegaly, muscle pain
159
Ix for Systemic JIA
ANA and RF -ve, Raised CRP, ESR, platelets and serum ferritin
160
Explain polyarticular JIA
Idiopathic inflam arthritis in 5 joints or more, tends to be symmetrical and can affect small or large joints
Minimal systemic sx
Most will be RF -ve
161
Explain Oligoarticluar JIA
4 joints or less, often single joint
more common in girls under 6
Anterior uveitis (refer to optho)
No systemic sx, inflam markers normal or mildly elevated, ANA +ve but RF -ve
162
Explain Ethesitis-related arthritis
More common in males over 6
Paeds version of seronegative spondyloarthropathies
Inflam where muscle inserts to bone
Majority have HLA-B27 gene
may have Sx of psoriasis or IBD
Prone to anterior uveitis
163
What is Juvenile psoriatic arthritis
Seronegative inflam arthritis associated with psoriasis
Can be symmetrical affecting the small joints or asymmetrical affecting large joints in LL
May have nail pitting, dactylitis, enthesitis, plaques of psoriasis on the skin
164
Tx for JIA
NSAID's, Steroids, DMARDS, Biologics such as inflix/adalimumab
