Paediatrics Flashcards
(297 cards)
1
Q
What are the recognized phases of childhood?
A
- Neonate (<4w)
- Infant (<12m)
- Toddler (~1-2y)
- Pre-school (~2-5y)
- School aged
- Teenager/adolescent
2
Q
What are the five key developmental fields?
A
- Gross Motor
- Speech and Language
- Social and Self help
- Fine motor
- Hearing and vision
3
Q
Thinking of walking as a milestone, when do most children develop this skill and at what point should you refer them to a specialist?
A
- Median age is 12 months (but some may start at 9-10 months)
- Refer if no walking by 18m
4
Q
What are some adverse environmental factors to development?
A
ANTENATAL: Infections (CMV, rubella, toxoplasmosis, VZV), toxins (smoking, alcohol, anti-epileptics)
POSTNATAL: Meningitis (especially leading to encephalitis), toxins, head trauma, malnutrition, metabolic changes, maltreatment, and maternal mental health issues
5
Q
What is screened for in the newborn exam and blood spot screening?
A
PKU, CF, MCASS and SCD
6
Q
What screenings are part of the Child Health Programme?
A
- Examination and blood spot screening
- New born hearing screening (Day 28)
- Health Visitor First Visit
- 6-8 week review
- 27-30 month review
- Orthoptist vision screen (4-5y)
7
Q
What is assessed in the 6-8 week review?
A
- Identification
- Feeding: breast vs. bottle
- Parental concerns
- Development: Gross motor, hearing and vision, communication, social awareness
- Measurements
- Examination
- Sleeping position
8
Q
What is assessed at the 27-30 month review?
A
- ID
- Development: social, communication, gross and fine motor skills, vision and hearing
- Physical measurements
- Diagnosis of health issues
9
Q
As part of the healthy child programme…
a. What is assessed in week 1?
b. What is assessed in week 2?
c. What is assessed in weeks 6-8?
d. What is assessed at 1y?
e. What is assessed at 2-2.5y?
f. What is assessed at 5y?
A
a. Feeding, hearing, examination, Vitamin K immunisations, blood spot
b. Feeding, maternal mental health, SIDS, jaundice
c. Examination, Immunizations, measurements, maternal mental health
d. Growth, health promotion
e. Development, concerns, language
f. Immunisations, dental health, support, hearing, vision, and delay
10
Q
What are red flags indicating developmental delays?
A
- Loss of developmental skills
- Parental/professional concern re. Vision
- Hearing loss
- Persistent low muscle tone
- No speech by 18 months
- Asymmetry of movements
- Not walking by 18 months
11
Q
What skills should a child have at 6 months?
A
Scoots/crawls
Grasps with whole hand
Makes simple sounds
Recognises people
12
Q
What skills should a child have at 12 months?
A
Moves head without support Taking steps Understands simple words Can use simple words Drinks alone from a glass Imitates and copies people Takes a longer interest in toys and activities
13
Q
What skills should a child have at 2 years?
A
Runs
Hears clearly and understands most simple language
Likes to be praised after simple tasks
Can undress simple clothes
14
Q
What skills should a child have at 3 years? name 5 things
A
Walks easily backwards Sees small shapes clearly at 6m Toilet trained Interacts with other adults and children Follows simple instructions
15
Q
What drives each phase of growth?
A
Infant = nutrient led Child = growth hormone led Pubertal = sex steroid led
16
Q
What factors contribute to birth weight and size?
A
- Maternal size
- Placental function
- Gestation
17
Q
What is the average size of an infant born to term?
A
3.3 kg
18
Q
How many calories should an infant be consuming each day?
A
95-110 kcal/kg/day
19
Q
What types of feeds are available for infants?
A
- Breast Milk = GOLD STANDARD; WHO recommended
- Expressed Breast Milk
- Formula
a. Cow’s milk based
b. Hydrolysed (YUCK), elemental, specialist
NB. DO NOT GIVE COWS MILK UNTIL THE CHILD IS 12 MONTHS OLD
20
Q
Why is Breast milk the best option?
A
Nutritionally perfect
Improves cognitive development
Reduces infection (macrophages and lymphocytes, bifidus factor which increases growth of healthy gut bacteria)
21
Q
What are examples of other formula?
A
- Pre-term formula
a. E.g. nutriprem, Cow’s gate, SMA Gold Prem 1 - Nutrient dense formula
a. SMA high energy, Infantrini
b. Prescribable up to 18 months - Easy digest
a. Aptilmil
b. For minor digestive problems
c. Contains probiotics
d. Not suitable for milk intolerance
22
Q
What feed should be used in formula-fed babies with a cow’s milk protein allergy?
A
- Hydrolysed protein feeds; 90% should respond
- Not very yummy so should be started as early as possible!
- E.g. Nutramigin Lupil, Similac, Apatamil
23
Q
What are signs that a child may have a milk allergy?
A
Reflux
Poor to no response to anti-reflux meds
Aversive feeding
Personal or family history of atopy
24
Q
When should lactose free milks be used?
A
In patients with a lactose intolerance caused by a deficiency in lactase enzyme. Often occurs transiently following gastroenteritis.
NOTE: it is not the same as a CMPA; lactose free milks contain cow’s protein
25
When is soya milk indicated in the newborn?
It is NOT suggested in infants below 6months due to high levels of phytoestrogens; can be used when Hydrolysed milk is refused (re: it tastes NASTY), in vegan families
26
Compare breast milk vs. formula
BREAST MILK
1. Suckling/bonding
2. Perfect nutrition up to 6 months
3. Passive immunity from mother
4. Develops infant gut mucosa through bifidus factor
5. Free
6. May reduce risk of breast cancer
FORMULA
1. No suckling; decreased bonding
2. Near perfect nutrition
3. No anti infection properties
4. Expensive
5. Provides vitamin K
6. Less risk of jaundice
7. Risk of contamination (esp. salmonella and Enterobacter)
27
When does weaning typically begin?
5-6 months (some before but don’t start after!)
28
What role does Vitamin D play in the newborn? Who should have supplements?
- Vital for bone growth
- Vitamin D supplements should be given to all pregnant and breastfeeding women, all infants 1-6mths who are breastfeeding when the mother has low levels, all those aged 65+, people exposed to little sun
29
Explain the relationship of calories and calcium in relation to milk
-Need 400-500mL of calcium-fortified milk to reach adequate requirements; if the baby is not getting enough calcium it should have calcichew supplements
30
What children should be sent on to see a dietician?
- Milk free diets beyond early weaning
- Allergies to basic foods (like wheat; Coeliac)
- Multiple food allergies
31
What measurements do we use for growth monitoring?
- Weight (kgs and gs)
- Length (cm)
- Head circumference (cm)
- Derived measurements for:
- Weight for age
- Length for age
- BMI (Kg/m2)
- Weight for length
- Rate of weight gain (g/day) for infants only
32
What is normal height and weight of a baby at birth?
3.3 kg
| 50 cm
33
What is normal height and weight of a 4mth old?
6.6 kg (doubles)
| 60 cm
34
What is normal height and weight of a 12 month old?
10 kg
| 75 cm
35
What is normal height and weight of a 3 year old?
15kgs
| 95 cm
36
What is failure to thrive (FTT)?
A child is growing too slowly in form and function at the expected rate for his or her age; not a diagnosis but a description of a pattern
37
What are maternal causes of FTT?
Poor lactation
Incorrectly prepared feeds
Unusual milk or other feeds
Inadequate care
38
What are infant-based causes for FTT?
```
Prematurity
Small for dates
Oro-palatal abnormalities
Neuromuscular disease (e.g. Cerebral Palsy)
Genetic disorders
```
39
What increased metabolic demands can cause failure to thrive?
- Congenital lung disease
- Heart disease
- liver disease
- renal disease
- infection
- anaemia
- inborn errors of metabolism
- CF
- thyroid disease
- Crohn’s IBD
- malignancy
40
What are non-organic causes of failure to thrive?
1. Poverty
2. Dysfunctional family interactions, esp. / maternal depression
3. Emotional deprivation syndrome
4. Poor feeding
41
How much should a baby gain weight?
150-200g/week for the first 6 months (although 10% loss is common in the first few days of life)
42
How much should a baby eat in a day?
140-180 ml/kg/day
43
By what age has most brain development occurred?
5
44
In terms of Milestone development what is the Limit Age?
The age by which skills should have been acquired and is two standard deviations (2SD) from the mean; anything above this requires specialist referral.
45
What is Global Development Delay (GDD)?
Performance below 2SD of the mean age-appropriate development; it is not the same as having a learning disability and it can affect any of the five key development skills (gross motor, fine motor, speech and language, social and self care, hearing and vision)
46
What is the incidence of GDD?
1-3% of children, 1% of which have Autistic Spectrum Disorder
47
How can you assess development of a child?
1. History and Exam
2. Prenatal, perinatal, postnatal events
3. Developmental milestones
4. The Red Book
5. Environment, social and family history
6. Video recordings
7. Observations in clinic
48
How can you quantify developmental disorders?
DELAY: Global or isolate
DISORDER: abnormal progression and presentation associated with a known illness
REGRESSION: loss of milestones; very worrying
49
What are red flag signs indicating possible developmental delay?
```
Regression
Poor vision
Poor hearing
Floppiness/hypotonia
No speech after 18-24 months
Asymmetry of movements
Persistent toe walking
Increased Head circumference
```
50
What is the Co-ordinated support plan?
A statutory document under the 2004 Additional Support for Learning Act (Scotland) for children in local authority school education used in children with complex or multiple needs regarding their education. It focuses on providing a multi-faceted approach to childhood learning deficits by improving their personal, family and social surroundings
51
What are the causes of Chronic Kidney Disease (CKD) in paediatrics?
- Developmental Anomalies: CAKUT, Hereditary conditions
| - Acquired Anomalies: Glomerulonephritis
52
What is the most common cause of CKD?
-Congenital Anomalies of the Kidney and Urinary Tract (CAKUT
53
What are types of CAKUTs leading to CKD?
- Dysplasia/Aplasia/Hypoplasia
- Posterior urethral valves
- Reflux nephropathy
- Prune Belly
54
What hereditary conditions are associated with CKD?
- Polycystic Kidney Disease
- Nephronopthasis
- Cystinosis
55
What are the four stages of embryological development of the kidneys?
1. Pronephros = non-functioning (vestigial) that disappears by 4 weeks
2. Mesonephros = temporary kidney until 13 weeks. It becomes the gonads and vas deferens in the male
3. Metanephros = Ureteric Bud that goes on the form the permanent kidney
4. Cloaca = forms between the two kidneys and goes on to become the urogenital sinus and rectum
56
What are Posterior Urethral Valves?
- Anomalous insertion of the mesonephric duct into the urogenital sinus, causing obstructed urine flow through the urethra
- Anatomical anomaly that can lead to CKD
57
What syndromes are associated with CAKUT?
- Turner Syndrome = dysplasia and structural abnormalities
- Trisomy 21
- Prune Belly Syndrome
58
What are common developmental abnormalities affecting the kidney?
- Ectopic kidneys (esp. pelvic)
- Horseshoe kidneys (fused lower pole)
- Duplex Ureter
- Ureterocele
59
What is Prune belly syndrome?
A syndrome associated with a triad of symptoms: undeveloped abdominal muscles (causing prune-like appearance of abdominal wall), undescended testicles and Urinary tract problems. It occurs (mainly) in males. The cause is unknown.
60
What is the name of the clinical presentation of fetal kidney dysfxn?
Potter’s Sequence
1. Decreased amniotic fluid
2. Pulmonary hypoplasia
3. Fetal compression – faces, contractures
4. Bilateral renal agenesis due to an absent ureteric bud
5. Polycystic Kidney Disease
6. Eventual Chronic Renal Failure
61
What is Potter’s sequence?
1. Decreased amniotic fluid
2. Pulmonary hypoplasia
3. Fetal compression – faces, contractures
4. Bilateral renal agenesis due to an absent ureteric bud
5. Polycystic Kidney Disease
6. Eventual Chronic Renal Failure
62
What is the presentation of CKD in children?
- Changes in kidney function:
- Excretion: altered urea and creatinine levels, altered H2O and electrolytes, altered Acid/Base Balance (due to changes in HCO3)
- Metabolic/Endocrine: Renin system changes, activation of vitamin D (leads to eventual bone disease), erythropoietin
- Ureteric/Bladder dysfxn
- Increased risk of UTI
63
What factors affect the progression of renal disease in children?
Persistent hypertension worsens kidney disease**
Proteinuria
High intake of protein, phosphate (increases PTH) and salt
Poor bone health
Acidosis (due to altered Bicarbonate levels)
64
What are excretory fxns of the kidney?
- Creatinine: a chemical waste of muscle metabolism
- Used to estimate the GFR (GFR = height/creatinine levels); in CKD we are concerned with the trends overtime as it has a slow rise. Typically look for trends in the individual rather than guideline changes
- Affected by AGE, MUSCLE MASS, DIET and MEDICATION
- Urea
- High levels are indicated by a loss of appetite and vomiting
- Severe cases often lead to gastrectomy and pruritus
- Salt
- Children are salt wasters (inappropriate removal of salt through excretion despite the bodies requirements) and require supplements; in babies this presents as failure to thrive
- Potassium
- Low potassium diet is required (often not very healthy)
- Water
- Polyuria causing natriuresis (so you continue to lose salt as you lose more water)
- Oliguria (abnormally small amounts of urine)
- Acidosis
- There is bicarbonate wasting; should be replaced to help children grow
65
How can reduce decline in patients with CKD?
- Control proteinuria from progressing by treating with ACE inhibitors
- Control BP
- Control Phosphate levels (Increases progression to ESRF and reduces the effect of ACE inhibitors such as Ramipril)
- Control salt intake
66
What is the endocrine function of the kidneys?
1. Renin-Angiotensin-Aldosterone System
The liver produces angiotensinogen. Renin, produced in the kidney, converts Angiotensinogen to Angiotensin I. ACE from the lungs and kidneys converts Angiotensin I to Angiotensin II which ultimately acts to increase BP throughout the body, including an increase in ALDOSTERONE secretion by the Adrenal Gland
2. Phosphate Excretion – maintained by Parathyroid Hormone; When calcium is low PTH increases causing an increase of phosphate from the bones and active Vitamin D (1,25 dihydroxycholecalciferol)
The kidneys are not functioning correctly so…
I. They increase the excretion of calcium and decrease the excretion of phosphate
II. Kidneys stop producing Calcitriol so small intestinal absorption of calcium decreases, thus, serum calcium levels drop further
III. Decreased serum calcium levels cause increased bone resorption, which increase serum phosphate levels further
3. Erythropoietin production
a. Decreased Erythropoietin causes Anaemia; treat with synthetic derivative and monitor iron and folate levels
67
What is secondary hyperparathyroidism?
An abnormally high phosphate level due to chronic kidney disease, associated with low calcium levels (re: when phosphate is high calcium is low and vice versa), raised PTH and low 1, 25 hydroxycalciferol (active vitamin D)
68
How do you measure BP in children?
<5 = Doppler BP (cuff often stresses child)
- Oscillometry (automated on ward; good at measuring MAP but estimates systolic and diastolic)
- Child should be lying down, right arm, and level of heart
* * If you use a cuff that is too small then you might overestimate the BP)
- White coat is common in kids; do not give diagnosis of Hypertension until 3 separate checks are done (not considered until >95th percentile)
69
What is metabolic bone disease?
- A complication of CKD in children
- Renal excretion of calcium rises so phosphate excretion decreases, thus, serum phosphate increases
- Bone degradation increases in an effort to increase calcium levels and low vitamin D
70
What is the treatment of CKD in children?
1. Low phosphate diet
2. Phosphate binders
a. Calcium carbonate
b. Sevelamer (Phosphate binding drug)
3. Hydroxylated Vit D3 (if phosphate normal but PTH raised)
a. Avoid hypercalcaemia (eventually kills through HD)
4. Growth Hormone if ongoing; should be pre-puberty for optimal growth
71
What are the effects of CKD in CVS?
-Increases atherosclerosis and calcification
72
What are the indications for renal replacement therapy?
- Poor growth
- Severely reduced GFR (<10ml/min)
- Uncontrolled HT, fluid and oliguria
- Uncontrollable hyperkalaemia
- Acidosis
73
What are the NICE guidelines regarding UTIs in children?
-Clinical signs PLUS
~10^5 bacterial colony units/mL on midstream urine
~Growth on SPA/catheter specimen
Note: Asymptomatic bacteraemia occurs in 2% of children
74
Who gets UTIs in childhood?
-Males > Females until puberty where they become highly uncommon in boys and more likely in girls
75
What organisms are associated with UTIs in children?
E coli
Klebsiella
Proteus (causes ureteric stones)
Strep Faecalus
76
What are the clinical findings of a UTI?
Generally: neonates have systemic symptoms, older children have localized symptoms
NEONATES = fever, vomiting, lethargy, irritability
CHILDREN = frequency, dysuria, abdominal pain/tenderness
77
How do you obtain a urine sample in children?
- Clean catch urine/mid stream urine sample are recommended, however, this is not always possible in children.
- You can try using collection pads, urine bags, catheters (although these can breed bacteria)
- Suprapubic aspiration in incredibly sick infants
78
How do you make a diagnosis of UTI in a child?
Symptoms +
- Dipstick w/ leucocytes and nitrites; unreliable as highly diluted due to liquid diet
- Microscopy w/ Pyuria or bacteria
- Culture
79
How do you treat a UTI in kids?
LOWER TRACT = 3 days oral antibiotics
UPPER TRACT = 7-10 days oral antibiotics; children tend to be systemically unwell and more severely sick; may require IV if vomiting e.g. gentamicin
80
Why do we worry about UTIs?
May be indicative of vesico-ureteric reflux where there is retrograde passage of urine from the balder to the upper renal tract. This may be congenital or acquired
81
What are the grades of vesico-ureteric reflux infection in children?
There are 5 grades; Grade 1 involves the ureter only, grade 5 involves gross dilatation and tortuous w/ calyces being affected
– Just remember that the higher the grade the more likely there is some abnormality with kidney structure
82
Who is at risk of renal scarring
```
Children with the triad of:
-UTIs
-VUR
-Abnormal papillary shape
Scarring occurs in 30% of all children with UTIs and VUR
```
83
How do we investigate the renal tract?
1. Renal USS
a. Shows hydronephrosis, renal size, gross scarring
2. DMSA Isotope scan
a. Shows renal scarring
3. Micturating Cystourethrogram
a. GOLD STANDARD FOR VUR
b. Gives info about posterior urethra and can diagnose posterior urethral valves
4. MAG3 scan
a. Child must be continent and must be able to void on command
b. Shows physiological obstructions (functional study)
84
What is the difference between obstructive and non-obstructive hydronephrosis?
Non-obstructive = medical. The causes are:
- Reflux
- Prune belly
- congenital mega ureter Obstructive = surgical. The causes are
- Posterior urethral valves (males)
- Neuropathic dysfunction of bladder
- PUJ, VUJ (Pelvic ureteric junction, vesicoureteric junction)
- Ureterocele
- stones
85
What is Acute Kidney Injury?
Abrupt loss of kidney function, resulting in the retention of UREA and other nitrogenous waste products and causing dysregulation of extracellular volume and electrolytes. There is anuria/oliguria, hypertension due to fluid overload and a rapid rise in plasma creatinine (kidneys lose filtration abilities)
86
What are the categoriazations of AKI?
1. Prerenal
2. Intrinsic renal
3. Postrenal
87
What are the causes of AKI?
```
Prerenal:
• Volume depletion (aka severe dehydration)
• Renal hypoperfusion
• Odematous states including cardiac failure, cirrhosis, nephrotic syndrome
• Hypotension
Intrinsic renal:
• Glomerular disease
o HUS
o Glomerulonephritis
• Tubular injury
o Acute tubular necrosis (causes the kidney to become more vulnerable to ischaemia and nephrotoxins)
• Acute Interstitial nephritis
Postrenal:
• Stones
```
88
What is HUS?
A clinical syndrome characterized by progressive renal failure associated with microangiopathic haemolytic anaemia and thrombocytopenia. It is the most common cause of AKI in children and has an increasingly rising adult diagnosis. It is associated with Entero-haemorrhagic e-coli and shigella (re: infections lectures)
89
How do children present in HUS?
- E coli O157 serotype
- occurs (up to 14 days) following diarrhea
- Diarrhoea that becomes bloody
- abdominal pain
- fever
- vomiting
NB. Bloody diarrhea is a medical emergency in children and should be referred and screened for HUS immediately
90
Which organs are particularly susceptible to Shiga Toxin release?
Kidneys, brain, lungs, pancreas, adrenals and heart, retina
91
What is the triad of HUS
I. Microangiopathic haemolytic anaemia
II. Thrombocytopenia (low platelets)
III. Acute renal failure
92
What is the management of HUS?
1. Prevent Oliguria by giving IV saline; be aware of fluid overload
2. Maintain fluid balance
3. Renal replacement therapy
NB. AVOID ANTIBIOTICS AS THESE ARE SHOWN TO CAUSE ORGANISM OVERLOAD
93
What is the clinical outcome of HUS?
100% have renal dysfunction
30-40% require renal replacement therapy
20% have residual renal dysfunction (with low GFR, hypertension and proteinuria)
20-25% have transient neurological dysfunction
94
How do you treat AKI?
1. Control BP
| 2. Control proteinuria
95
How does the glomerular filtration barrier work?
Endothelial cells in capillaries (with fenestrations)
Podocytes with foot processes, as part of barrier from vascular compartment and urinary space, maintaining ‘tight junctions’ at slit diaphragms between the foot processes (pedicels)
Supporting mesangial cells as ‘scaffolding’
Shows high conductance to small and midsized solutes in plasma but retains relative impermeability to macromolecules
96
Describe Glomerular function
- Podocytes produce proteins and form a barrier between vascular compartment and urinary space
- Mesangial cells provide support, and regulate blood flow of the glomerular capillaries
- Endothelial cells are most susceptible to injury
- Glomerular Basement Membrane makes proteins: COL4 (associated with Alport’s disease) and laminin (associated with Pierson’s Syndrome
97
What disease is associated with a Type IV collagen deficiency?
Alport’s Disease
98
What is the GFR of a neonate?
20-30mls/min; at 2 years it is equal to that of an adult
```
Compare acquired vs inherited glomerular injury
INHERITED:
-Podocyte cytoskeleton changes (e.g. changes to podocin and nephrin proteins)
-BM Protein changes (Alport’s syndrome)
ACQUIRED:
-Immune
-Non-immune
-Idiopathic
```
99
What is glomerulonephropathy?
A non-inflammatory disease of the renal glomeruli, which typically presents with proteinuria and haematuria. It is of a progressive nature and has individual variability
Proteinuria signifies glomerular injury
100
What is glomerulonephritis?
Glomerulonephritis (GN) denotes glomerular injury and applies to a group of diseases that are generally, but not always, characterised by inflammatory changes in the glomerular capillaries and the glomerular basement membrane (GBM). The injury can involve a part or all of the glomeruli or the glomerular tuft. The inflammatory changes are mostly immune mediated
101
How do you test for proteinuria?
1. Urine Dipstick
a. >3 = highly abnormal
b. Protein Creatinine Ratio (nephrotic range >250mg/mmol
c. 24 hour urine collection = GOLD STANDARD
102
What is nephrotic syndrome?
```
A triad of:
I. Proteinuria
II. Hypoalbuminaemia
III. Oedema
**May also have hyperlipidaemia as there is an increased turnover of glycogen/protein synthesis in the liver**
```
103
What are the causes of nephrotic syndrome?
```
– Idiopathic (Primary Glomerulopathies)
• Minimal Change Disease (MCD) (most common in childhood)
• FSGS
• MPGN - types 1 and 2 (very rare)
– Secondary
• Henoch-Schönlein purpura,
• Lupus and other auto immune disease
• Post infectious
– Congenital
• Genetic
```
104
What is Minimal Change Disease?
The most common glomerulonephritis in children in which there is a T-cell mediated loss of Podocytes in the glomerulus. It is steroid sensitive (compared to FSGS which is steroid resistant)
105
How does steroid sensitivity contribute to a diagnosis in Idiopathic NS in children?
Steroid sensitivity = Minimal Change Disease
| Steroid resistance = Focal Segmental Glomerulosclerosis (poor prognosis)
106
What are the typical features of MCD (minimal change disease)?
```
• Age 1-10 yrs
• Normotensive
• No microscopic haematuria in remission
– May be present up to 60 % at diagnosis
• Normal renal function
```
107
What is the treatment of Nephrotic Syndrome?
In children always assume the cause is MCD unless there are atypical features present!!
Treat with Prednisolone for 12 weeks but be careful of long-term steroid use toxicity
108
What is the outcome of nephrotic syndrome?
The majority of patients (95%) are in remission after 2-4 weeks although many relapse, especially with intercurrent illness
109
What is the pathogenesis of Steroid Resistant Nephrotic Syndrome?
– Primary (acquired, idiopathic)
– Podocyte loss and progressive inflammation and sclerosis
– Focal Segmental Glomeruloscerosis (FSGS)
– Congenital
– Functional impairment and Podocyte loss
– NPHS1 – nephrin
– NPHS 2 – podocin expressed in slit diaphragm
110
What is Focal segmental glomerulosclerosis (FCGS)?
Focal segmental glomerulosclerosis (FSGS) is a cause of nephrotic syndrome in children and adolescents, as well as a leading cause of kidney failure in adults. It is also known as "focal glomerular sclerosis" or "focal nodular glomerulosclerosis." It accounts for about a sixth of the cases of nephrotic syndrome. It is steroid resistant
111
How is FSGS diagnosed?
Biopsy showing juxtaglomerular sclerosis
112
What is Familial Steroid Resistant NS?
* Congenital Nephrotic Syndrome
* Nephrin (NPHS1) - Finnish’ type
* Autosomal recessive – 19q12-13
* Only expressed in Podocytes
* |Forms filtering structure in the slit diaphragm
* Podocin (NPHS2)
* Autosomal recessive –1q25-31
* Hairpin like structure
* Only expressed in Podocytes
* Interacts with nephrin
* Defective slit diaphragm function
* 20% of FSGS have podocin mutation
113
How do you diagnose haematuria?
- Urine Dipstick and microscopy
| - Trace 2x for a diagnosis in childhood
114
What are causes of haematuria?
UTI
Post Infective GN
Henoch Schonlein Purpura (HSP)
Alport’s Syndrome
115
What is Acute Post Infectious Glomerulonephritis (APIG)?
Acute GN causing nephritic syndrome. It is associated with Group A streptococci and occurs 5-21 days after infection.
116
What are the hallmarks of Nephritic Syndrome?
1. Oedema
2. Oliguria
3. Hypertension
4. Frank Haematuria
5. Proteinuria
117
How do you diagnose APIG (acute post-infectious glomerulonephritis)?
- Bacterial culture
| - Positive ASOT (antistreptococcal antibodies)
118
What is the treatment of APIG?
- Antibiotics
| - Diuretics to decrease BP
119
What is the outcome of APIG?
The outcome is very good!
120
Which bacterium is associated with APIG?
Group A Streptococci
121
What is Henoch Scholein Purpura (HSP)?
The most common vasculitis of childhood and affects the small vessels. HSP is characterised by the classic tetrad of rash, abdominal pain, arthritis/arthralgia, and glomerulonephritis.
122
What are the indications and causes of HSP?
1-3 days post viral URTI
123
What are the symptoms of HSP?
1. Diffuse abdominal pain
2. Renal involvement (haematuria and/or proteinuria)
3. Arthritis or arthralgia
4. Palpable purpuric rash
- 1/3rd of patients will be symptomatic for <2weeks
- 1/3rd of patients will be symptomatic for 2-4 weeks
- 1/3rd of patients will be symptomatic for >4 weeks
- 1/3rd will have a relapse
124
What is IgA nephropathy?
GN caused by accumulation of IgA in the mesangial cells of the glomerulus and typically occurs in older children and adults. It presents with recurrent macroscopic haematuria and proteinuria (treat with Ace inhibitors).
125
What is Alport’s Syndrome?
Alport's syndrome is an inherited disease of the glomerular basement membrane caused by abnormalities in type IV collagen. It is associated with sensorineural hearing loss, lenticonus (bulging of the lens capsule and the underlying cortex and retinal abnormalities, as these tissues are additional sites of expression of type IV collagen. The classic thickening and lamellation of the glomerular basement produces a progressive haematuric nephritis that progresses to chronic renal failure in all males with the X-linked form of the disease.
126
What is the clinical presentation of Alport’s Syndrome?
• Renal
– Haematuria - microscopic and macroscopic
– Proteinuria
– Hypertension
• Deafness - high tone sensori-neural loss
• Poor prognosis in males; progressive disease
• Renal failure in early adult life
– Age 20-30 years
• Eye changes
• Lenticonus
• Macular changes in retina
127
What are the presenting features of Crohn’s disease?
Weight loss, failure to thrive (these typically precede abdominal pain), Abdominal pain, arthritis, rectal bleeding, diarrhoea, mass (may have fever), rashes
128
What are the presenting features of Ulcerative colitis?
Diarrhoea, Rectal bleeding, Abdo pain and arthritis
129
How can you differentiate between Crohn's Disease and UC?
-Crohn's can affect any part of the GI tract, while UC only affects the colon
130
What is the most common age of diagnosis of IBD in children?
Most commonly diagnosed above the age of 10, however if a child is presenting with IBD symptoms DO NOT DISREGARD THEM SIMPLY BECAUSE THEY ARE A KID
131
What might you find in the history of the patient with IBD?
- intestinal and extraintestinal symptoms (including skin, eyes and joints)
- First degree relative with IBD
132
What Lab investigations would you do if you suspected IBD in a child?
- RULE OUT INFECTION; will be self limiting
- FBC and ESR ---> Anaemia, thrombocytosis, raised ESR (from inflammation)
- Stool calprotectin** (indicates bowel inflammation)
133
What definitive investigations could you do to determine a diagnosis of IBD?
MRI and Barium Meal are useful in Crohn's Disease
| Endoscopy, colonoscopy
134
What are complications of IBD?
-1/10 patients go on to develop liver disease
135
What are treatments for IBD in children?
1. Anti inflammatories (mesalazine)
2. Immunosuppressives
3. Biologicals (Infliximab)
+ NUTRITION in all of them
-Supplments, Enteral nutrition (if needed) and immune modulation
136
What are problems in Paediatric IBD?
- Generally less symptomatic in early stages, causeing mainly delay in growth
- Embarrassment among peers and body image problems
- Treatment compliance
137
What are other signs/symptoms of constipation in children?
* Infrequent passage of stools (Enquire about normal frequeny, how hard? Painful? Recent change?)
* Poor appaetite
* Irritability
* Lack of energy
* Abdominal pain/distension
* Withholding/strainging when going to the toilet (vicious cycle because causes compaction leading to even more constipation)
138
What causes children to become constipated?
* Poor diet (insufficient fluids, excessive milk consumption causing constipation and iron deficiency)
* Inadequate potty training/school toilets
* Intercurrent illness
* Medication
* Family history
* Psychological (secondary)
* Organic
139
What will you find on examination in the child with constipation?
* Pain or anal fissures
* Large, hard stools
* Distended abdomen
* Examine lower back for any lumbosacral abnormalities
* Could do neuro exam of lower limb but NEVER EVER EVER DO A RECTAL EXAM
140
What is the treatment of constipation?
* Dietary changes (increase fruit, fibre and fluids and DECREASE MILK CONSUMPTION)
* Reduce aversive factors
* Soften stools and stimulate defecation – Osmotic laxatives like lactulose, stimulant laxatives like senna or picolax, isotonic laxatives like movicol
NB. Continued soiling and faecal incontinence is almost always due to impaction. This may be mistaken for diarrhoea
141
Describe embryological development of the liver
1. Hepatic diverticulum
- Hepatoblasts
- Hepatocytes
- Ductal plate
- Hepatic ducts
2. Endoderm
- Cystic diverticulum
- Cystic duct
- Gall Bladder
142
What are the functions of the liver?
1. Metabolism/Storage
2. Bile synthesis and excretion
3. Degradation of drugs, oestrogen and toxic products
4. Synthesis
143
What are the clinical features of liver disease?
1. Hypoglycaemia
2. loss of muscle mass due to albumin dysfunction
3. decreased coagulation
4. decreased drug metabolism
5. telangiectasia and gynaecomastia
6. cholestasis
7. pruritis
8. fat malabsorption
9. fat soluble (A,D,E,K) vitamin deficiency, 10. failure to thrive
11. Rickets, splenomegaly
12. Ascites
13. encephalopathy
14. bruising
15. epistaxis
16. dark urine
17. pale stools
18. jaundice
144
What are LFTs and when are they abnormal?
```
ALT/AST = hepatocyte inflammation/damage
Conjugated bilirubin = Hepatocyte dysfxn or biliary obstruction
Alk Phos = Biliary inflammation
GGT = Biliary inflammation, alcohol
Prothrombin Time = vitamin K deficiency
```
145
What is prolonged neonatal jaundice?
Persistent Jaundice occuring >14 days in a term infant and >21 days in a preterm infant; it can be unconjugated or conjugated (cholestatic Jaundice)
146
What do ask to determine if jaundice is conjugated or unconjugated?
-Ask Qs in the history? Look at the stool (re: conjugated = pale stools and dark urine)
147
What are the causes of unconjugated hyperbilirubinaemia?
- #1. Breast milk jaundice (resolves in 1-2 months)
- only intervene if failure to thrive
- Infection (UTI)
- Haemolytic anaemia from G6PD deficiency
- Hypothyroidism
- Inherited
- Gilbert’s Syndrome (less enzymes required to breakdown bilirubin)
148
When do you suspect conjugated hyperbilirubinaemia?
-Pale stools and dark urine; baby may appear healthy but could have lethal liver function
149
What are causes of conjugated hyperbilirubinaemia?
1. Intrahepatic
a. Congenital infection – TORCH (toxoplasmosis, Other – syphilis, varicella zoster -Rubella, cytomegalovirus and Herpes
b. Galactosemia, Tyrosinaemia, -1 Antitrypsin
c. Cystic Fibrosis
d. Endocrine – hypothyroidism, hypopituitarism
e. Chromosomal abnormalities
f. Storage disorders
g. Progressive familial intrahepatic cholestasis
h. Intrahepatic bile duct hypoplasia
i. Durgs
j. Parenteral nutrition
2. Extra Hepatic
a. Biliary atresia
b. Choledochal cyst
c. Inspissated bile syndrome (thick sludge building up in bile duct causing jaundice)
d. Gall stones
150
How does biliary atresia affect the liver?
-Progressive destruction of extra-hepatic ducts (meaning it presents several weeks after birth typically), with scarring, obliteration and concomitant damage to intrahepatic ducts; poor flow or no flow in bile ducts (may lead to cholestasis)
151
How do you investigate biliary atresia?
- Clinical assessment
- Stool inspection (pale)
- Blood investigations (INR, serum bilirubin, LFTs)
- Fast abdominal ultrasound
- Isotope scan
- HIDA scan
- Liver biopsy – will show bile duct proliferation, bile plugs, portal tract oedema, fibrosis and giant cell transformation
152
What are causes of Chronic Liver Disease in children?
Infection – Hepatitis A, B, C, E, CMV, EBV, Enterovirus
Metabolic – A1 antitrypsin deficiency, Wilson's Disease, Cystic Fibrosis, Non Alcoholic Fatty Liver Disease (steato hepatitis)
Autoimmune Hepatic destruction
Budd Chiari Syndrome (obstruction of Hepatic Venous Outflow)
Gall Stones
Sickle Cell Disease
153
What is the epidemiology of Congenital Heart Disease
8/1000 live births
| 8 common lesions account for 80% of all CHD
154
What is the etiology (general) of CHD?
1. Genetic Susceptibility
a. Environmental hazards
2. Teratogenic insult
155
What specific environmental factors are attributed to CHD?
Drugs – alcohol, amphetamines, cocain, ecstasy, phenytoin
Infections – TORCH
Maternal – DM, SLE
156
What chromosomal abnormalities are associated with CHD?
Trisomy is highly associated w/ CHD
Trisomy 13 = VSD and ASD
Trisomy 18 = VSD and PDA
Trisomy 21 = AVSD (atrioventricular spetal defects)
Turners: coarctation of the aorta
Noonan = pulmonary stenosis
Williams = Supravalvuar AS (mild dysmorphic features, mild learning difficulties, very sociable; cocktail party personality)
22q11 deletion syndrome (Catch 22/Di George syndrome)
157
What are the symptoms of Di George syndrome?
```
Cardiac Abnormalities = Tetralogy of Fallot
Abnormal facial features
Thymic hypoplasia (decreased immunity)
Cleft Palate
Hypoparathyroidism
22q11 deletion
```
158
What are the 8 commonest lesions of CHD?
1. Ventricular septal defects
2. Patent ductus arteriosus
3. Atrial septal defect
4. Pulmonary stenosis
5. Aortic stenosis
6. Coarctation of the aorta
7. Transposition of the great arteries
8. Tetralogy of Fallot
159
What are signs of CHD in a child?
• Central cyanosis
• Dysmorphic features
• Murmers (70-80% are harmless)
• There is a triad of symptoms in children:
o Tachycardia, tachypnea, hepatomegaly
• May get breathless and sweaty during feeds**
o This leads to FTT b/c of decreased calorie intake
160
What is seen on examination on children with CHD?
* Weight and height
* Dysmorphic features
* Cyanosis
* Clubbing
* Tachy/dyspnea
* Pulses and apex beat
* Heart Sounds (clicks, splits, murmers)
161
What investigations are used in CHD?
1. Blood pressure
2. O2 sats + arterial ABGs
3. ECG
4. CXR
5. Echo
6. Catheter
7. Angio
8. MRI
9. Exercise testing
162
How do we characterize heart murmurs?
```
Timing in Cardiac Cycle
Systole / Diastole / Continuous
Duration
Early / Mid / Late
Ejection / Holo or Pan Systolic
Pitch / Quality
Harsh or Mixed Frequency (Turbulence)
Soft or Indeterminate
Vibratory / Pure Frequency (Laminar Flow)
```
163
What are innocent murmurs?
Occur as part of 70-80% of all murmurs; 4 types
164
What are common features of innocent murmurs?
```
Musical quality
No other signs of cardiac disease
Soft (grade 1 or 2)
Localized
Varies with position, respiration and exercise
```
165
What is Still’s Murmur?
- Left ventricular outflow murmur that occurs in those aged 2-7.
- Heard along left sternal wall and get louder upon lying down and disappear when dstting up
166
What is a pulmonary Outflow Murmur?
- occurs in children aged 8 to 10
- Soft systolic, vibratory
- Upper left sternal border, well localized, not radiating to back
- increases with supine position and exercise
- Often occurs in children with narrow chests
167
What are carotid/Brachiocephalic Arterial Bruits?
Harsh systolic murmurs occur in those aged 2-10
Supraclavicular; radiates to neck
Increases with exercise
168
What is the venous hum?
- a murmur that may get louder in diastole and can only be heard in an upright position
- occurs in those aged 3-8
- soft and indistinct murmur w/ diastolic accentuation
- Supraclavicular
169
What are the 3 main types of VSDs?
1. Sub aortic (cusps of th aortic valve can herniate causing further problems)
2. Perimembranous
3. Muscular
170
What is the clinical presentation of a VSD?
Pan systolic murmur on lower left sternal edge w/ a thrill
Small VSD = early systolic murmur
Large VSD = diastolic rumble w/ mitral stenosis
Signs of cardiac failure
o Ventricular hypertrophy
o Pulmonary hypertension
171
What investigations would you do in a suspected VSD?
-Colour Doppler
172
How do you close a VSD?
Amplatzer device – memory mesh that pulls into a filament and occludes the VSD
Patch closure
173
What is an Atrial Septal Defect and how does it present?
- Few clinical signs in early childhood and there is a chance of spontaneous closure
- Sometimes detected in adulthood due to Atrial Fibrillation
- Wide fixed splitting of 2nd heart sound (diagnosed in early to late teens) wigth a pulmonary flow murmur
174
How do you diagnose an ASD?
- ECG (showing right atrial hypertrophy)
- Echo
- Doppler
175
What Trisomy is AVSD associated with?
-Trisomy 21 (down’s Syndrome)
176
What is the most common stenosis in children?
Pulmonary stenosis
177
What is the presentation of Pulmonary Stenosis?
- Asymptomatic in mild stenosis (this is the most common stenosis)
- Dyspnoea and fatigue on exertion
- Ejection systioikc murmur in upper left sternal border with radiation to the back
178
How does aortic stenosis present?
- mostly asymptomatic
- reduced exercise tolerance with syncope and exertional chest pain
- ejection systolic murmur in upper sternal border
- radiation into carotids
179
How do you treat Pulmonary stenosis?
Balloon valvoplasty
| Valve replacement once patient has reached puberty
180
Who is most susceptible to a PDA?
Preterm babies
181
What are changes in the fetal circulation at birth?
1. Pulmonary vascular resistance falls
2. Pulmonary blood flow rises
3. Systemic vascular resistance is increase
4. Ductus arteriosus closes
5. Foramen ovale closes
6. Ductus Venosus closes
182
How do you treat PDA?
Fluid restriction, diuretics, prostaglandin inhibitors and surgical ligation
** in term babies there is a good chance of spontaneous closure**
183
What is co-arctation of the Aorta?
A congenital condition whereby the aorta narrows in the area where the ductus arteriosus inserts. Aortic coarctation is considered when a section of the aorta is narrowed to an abnormal width.
184
What imaging techniques are used in CoA?
- MRI
| - 3D MRI
185
How do you manage CoA?
- re-open PDA with prostaglandins (side effects: apnoea; requires ventilation, hypotensive)
- Resect the narrow part of aorta and do an end-to-end anastomosis; very effective
- Subclavian patch repair
- Balloon aortoplasty (poor long term outcome; high re-occlusion rate)
186
What is transposition of the great arteries?
Most common = transposition of the great vessels
The aorta comes off of the RV and the Pulmonary Artery comes off the LV meaning that deoxygenated blood is going throughout the body, which is entirely useless; patient will become symptomatic after closure of the Ductus Arteriosus
187
What are the four components of the Tetralogy of Fallot?
1. Pulmonary stenosis (determines how bad the Fallot’s tetraology is)
a. Less blood flows through lungs so general oxygenation is decreased
2. VSD
3. Right ventricular hypertrophy (caused by pulmonary stenosis)
4. An overriding aorta
188
How does Fallot’s Tetralogy present on CXR?
Classic Boot shaped heart on CXR due to hypertrophy
189
What is a hypoplastic left heart?
A condition in which the left ventricle does not develop properly, thus, is very small and weak and typically non-function and the aorta is hypoplastic. The heart cannot pump adequately so you get no meaningful systemic circulation
190
What is the incidence of congenital anomalies?
3% of all births
20% of all paediatric hospital admissions
30% of infant deaths
191
What is hypertelorism?
- An abnormally increased distance between two organs or body parts
- Most commonly affects the eyes
- Increased Inner Canthal Distance (ICD); inner eyelid corner to inner eyelid corner
- Increased inter-pupillary distance (IPD)
192
How does telecanthus differ from hypertelorism?
-ICD is increased in BOTH, but IPD is normal in those with telecanthus
193
What is a malformation?
A developmental problem in which the child was never going to be normal in the first place. It can be alone or as part of a syndrome
POLYSYNDACTYLYL = extra fingers and toes with webbed features- Hox D13 one
ACROCEPHALOPOLYSYNDACTYLYL = abnormal skull bone fusion + polydactyly – GLI3 mutation
194
What is the sequence of Fetal Akinesia Sequence?
1. Reduced fetal movement
2. Reduced breathing
3. Contractures
4. Clefting
5. Lung hypoplasia
195
What is a disruption developmental anomaly?
Development starts normally but becomes abnormal; the original organ may be unrecognizable
E.g. Amniotic bands
196
What is a sequence developmental anomaly?
One abnormality occurs and leads to another
| E.g. Pierre Robin sequence (small chin and cleft palate)
197
What is a deformation developmental anomaly?
Development starts normally but becomes abnormal. Crucially the original organ is still recognizable
E.g. amniotic bands
198
What is an association developmental anomaly?
Two+ features occur together more often than expected by chance; mechanism is unclear
E.g. Vater Association
199
What is VATER association?
An association anomaly characterized by:
1. Vertebral anomalies
2. Ano-rectal atresia
3. Tracheoesophageal fistula
4. Radial anomalies
200
Regarding Neonatal Jaundice:
A. What are its complications?
B. What is the definition?
C. What is the general pathophysiology
1. a. May indicate underlying disease
b. Neurotoxicity
2. a. TSB > 70 micromol/L
3. Breakdown of RBC and other heme products causing an increase in Biliverdin and thus, Bilirubin leading to HYPERBILIRUBINAEMIA
201
What are the causes of hyperbilirubinaemia?
a. Physiological
b. Overproduction of bilirubin
c. Under secretion of enzymes
d. Breast feeding
202
What are the features of physiological jaundice?
a. Elevated unconjugated bilirubin (meaning stools and urine are normal)
b. Elevated Total Serum Bilirubin (TSB); typically peaks at 100micmol/L
203
What is the pathophysiology of physiological jaundice in the neonate?
a. In utero bilirubin must remain unconjugated in order to pass through the placenta (prevents buildup in the fetus); The enzyme glucuronosyltransferase, which normally converts unconjugated to conjugated is often not activated until a few days after birth
b. RBCs have a shorter lifespan in neonates so haemolysis occurs faster
c. Low intestinal flora in the neonate. Intestinal flora typically aids in the conversion of bilirubin
204
What is the incidence of jaundice in breast fed infants?
2/3`
205
What are causes of Early Jaundice (first 24h)
a. NOTE: typically if it occurs right away there is a more serious underlying issue than feeding or temporarily low enzymes
b. Haemolytic until proven otherwise
i. Caused by RH incompatibility (e.g. mother is Rh positive and baby is Rh negative), ABO mismatch, infection, hereditary haemolytic anaemias
206
What investigations should be done in a suspected early jaundice of the neonate?
a. Hb
b. Blood group
c. Direct Coombs test (Anti-globulin test; rapidly diagnoses haemolytic anaemia
207
What are the features of breast feeding Jaundice?
a. Elevated unconjugated bilirubin
| b. It may be benign or pathological although TYPICALLY the earlier it presents the worse the jaundice will be for longer
208
What is the management of breastfed jaundice?
a. Improved/increase breastfeeding
209
What is the treatment of Jaundice
a. Treat the underlying condition
b. Phototherapy
i. Photo-oxidation, Photo-conversion, Photo-isomerization
c. Exchange transfusion
210
What is Biliary Atresia?
a. Biliary atresia is a progressive idiopathic, necroinflammatory process affecting the biliary tree. Presentation includes jaundice, pale stools or hepatomegaly; will be conjugated. The prognosis is VERY poor unless surgery is performed IMMEDIATELY
211
What is Kernicterus?
a. A severe form of bilirubin toxicity in the newborn affecting the BASAL GANGLIA and BRAINSTEM NUCLEI
212
What are symptoms of kernicterus?
a. early?
b. late?
c. chronic?
a. Early?
i. Lethargy, poor feeding, hypotonia
b. Late?
i. Irritability, opisthonus (entire body hyperextension), seizures, apnea, fever
c. Chronic?
i. High frequency hearing loss, paralysis of upward gaze, dental dysplasia, mild mental retardation
213
In respect to birthmarks…
1. What are the 4 types of birthmarks associated with the neonate?
2. Which are concerning and require further follow-up?
1. a. Capillary Naevi
b. Mongolian Spots (often confused for
heavy bruising!); not a bruise; abnormal
pigmentation that takes years to go
away on its own
c. Strawberry Naevi
d. Melanotic Naevi
2. a. Strawberry Naevi may require follow
up if causing severe bleeding or if
affecting the eyelids of airways
b. Melanotic Naevi require plastic
surgeon referral as they are pretty nasty
and hairy
214
How common are undescended testes?
Affect 1/3 of premature Males
| Affect 3% of term male infants
215
What is there most likely presentation?
Unilateral
216
What are complications of undescended testis?
Hypogonadotropic hypogonadism, especially if bilateral undescended testes; require further investigation
217
What is the treatment of undescended testicles?
Orchidopexy or medical treatment
218
What is testicular torsion?
Hard and discoloured testis lying horizontally in the scrotum; do not trans illuminate
219
How is testicular torsion diagnosed?
Scrotal Colour Doppler USS diagnosed by verifying arterial flow
220
What is a micropenis?
A penis measuring less than 2.5cm in a term baby
221
What further investigation should be done following findings of a micropenis
A micropenis may indicate reduced androgens thus, the newborn should be investigated for Ambiguous Genitalia
222
What is hypospadias
Proximally displaced urethral meatus (pee hole) in the male; typically displaced near the scrotum rather than the tip of the glans as is normal
Fun fact: Hitler had this
223
What is Chordee?
Ventral curvature of the penis and may be due to a shortened urethra or skin tethering; can’t be straightened and is most obvious in erection
224
What are hydroceles
A fluid filled sac in the testicles, often occurring in conjunction with an inguinal hernia. It is a painless, tense, fluctuant scrotal mass that trans illuminates (may help differentiate between testicular torsion)
225
What are vaginal tags
Skin tags of no significance on the vagina; disappear with time
226
What legislation is in place to protect children in Scotland?
-UN Convention on the Rights of the Child
"the right to be protected from abuse or neglect by parents or carers
-Children's Charter (Scotland)
Protect children and young people, stating they have the right to be protected and should be safe from harm by others
227
What are the categories of abuse?
1. Physical Abuse
2. Sexual Abuse
3. Emotional Abuse
4. Neglect
5. Fabricated/Induced Illness
228
How is abuse identified?
1. Doctors in PC or A&E
2. Health visitors, teachers, social workers, public
3. Paediatrician's role
a. Useful in considering a differential
229
What are Risk Factors for Child Abuse?
- Vulnerable carers
- Vulnerable children
- History of unexplained sudden infant death
- Parents were abused as children (cycle of deprivation)
230
In regards to physical abuse what are alarm bells?
1. Late presentation
2. changing history
3. history inconsistent with findings (you must know what is medically normal)
231
What are common presentations of physical abuse?
- Bruising
- Burns (dry heat)
- Scalds (Wet heat)
- Fractures – many are accidental; understand the mechanism
- Spiral Fractures, rib fractures, callous formation (indicates unmanaged bruises)
232
What is the difference between Impetigo v Cigarette Burns?
```
Both circular
Both infected (staph for both!)
Different sizes (cigarette burns = uniform, imoetigo = different sizes)
Burnt hair
Healing is different
```
233
What is the presentation of Abusive Head Trauma (shaking baby)?
* Commonest cause of death in phyiscal abuse
* Predominantly <2years old
* Poor feeding, unsettled, respiratoy distress, fits, retinal haemorrhages (rule out if baby is septic)
* Residual disability
* Neck and cervical spine injury
234
What are the categories of neglect?
* Emotional
* Abandonment
* Medical
* Nutritional
* Educational
* Physical
235
What are indicators of Sexual Abuse?
* Disclosure (made by someone else)
* Hypersexualised bahaviour in the child
* STI
* Pregnancy
236
What examinations are down in suspected sexual abuse?
```
o Joint paeds/Forensic medical examiner
o Video colposcope
o General Physical Exam
o DO NOT REPEAT INTERVIEW
o Developmental Assessment
```
237
What are presentations of FII (Fabricated/Induced Illness)
o Very rare and lies on a spectrum
o 90% of the time is done by the mother
o Likely underestimated
o Motivation is unclear (typically for attention)
238
What is the leading cause of disease related death in children?
Cancer
239
What are the most common types of cancer in children?
```
Leukaemia/Hematological Tumours (1/3)
CNS tumours (1/4)
Soft tissue sarcomas
WIlm’s tumour
Bone tumours
Retinoblastoma
```
Many of these cancers are extremely rare so people collaborate together all around the world
240
What is the aetiology of childhood cancer?
Genetics
Environment
Epigenetics (derived from mother; somatic mutations)
Iatrogenic
241
What cancers are associated with genetics?
Li-Fraumeni Familial Cancer Syndrome (p53)
Retinoblastoma
Downs syndrome (causes tumours)
Neurofibromatosis
242
What are environmental triggers associated with cancer?
```
Radiation = Thyroid Cancer
Non-ionizing vs. ionizing (sun, electromagnetic)
e.g. Hepatoblastoma = maternal smoking
Viral Infections
Kaposi Sarcoma = HIV
Hepatic Carcinoma = Hepatitis B
```
243
What iatrogenic things can cause cancer?
1. Chest irradiation (esp. for Hodgkin’s Lymphoma in young girls leading to Breast cancer – 1/3)
2. Chemotherapy of Etoposide may lead to AML
3. CNS Radiation = Secondary tumours
244
What are the referral guidelines for suspected cancer?
Immediate referral: unexplained petichiae, Hepatosplenomegaly
Regent referral: repeat attendance particularly with the same problem or no clear diagnosis
Refer: rest pain, back pain and unexplained lumps
245
What are features of childhood cancer in primary care?
1. Pallor
2. Lump/mass/swelling head and neck
3. Lymphadenopathy
4. Abnormal movement
5. Bruising
6. Fatigue
7. Bleeding
8. Headache
9. Visual Symptoms
10. Pain
11. MSK Symptoms
Couple with 3 or more visits within the year to make you HIGHLY suspicious of a diagnosis of Cancer
NB. Most children with red flag symptoms will not have cancer but SOME will so investigate carefully
246
What are symptoms of brain tumours?
Persistent/recurrent vomiting
Abnormal balance/walking/co-ordination
Abnormal eye movements
Behavior changes, esp. lethargy
247
Where are cancer symptoms in teens?
```
Pain
Lumps
Mole changes
Weight loss
Extreme tiredness and lethargy
```
248
What is tumour lysis syndrome?
A metabolic derangement caused by rapid death of tumour cells and the release of intracellular contents
Occurs secondary to treatment and may occur in response to things like anesthesia, infection, chemotherapy, etc.
249
What are the clinical indications of Tumour Lysis Syndrome?
1. High potassium
2. high irate
3. high phosphate
4. low calciu
5. acute renal failure from a combo of urate load
6. Calcium phosphate crystal deposits in the kidneys
250
How do you treat TLS?
1. Avoidance; give lots of fluid to keep kidneys well flushed
2. ECG Monitoring (for high potassium)
3. Diuresis (with fluid)
4. NEVER GIVE POTASSIUM
5. Treat hyperkalaemia
a. Calcium resonium, salbutamol, insulin (the latter push it into cells)
6. Watch urate and phosphate loads (Allopurinol or Uricase)
251
What is Febrile Neutropenia
Damage to your immune system by chemotherapy making you more susceptible to infection; determined by duration and severity of
Neutrophils <1 and a fever assessed by >38 C
In addition Patients for whom there is a clinical suspicion
252
What is the treatment of Febrile Neutropenia?
Investigate
Cultures, swabs, stool, urine
Broad-spectrum IV antibiotics
(But don’t forget fungi!)
253
What is Spinal cord compression?
Rare but devastating
~5% of solid tumours at presentation
-Dumbbell = grow outside of spinal column
254
What are the features of spinal cord compression?
```
Weakness
Spine tenderness
Sphincter disturbance
Sensory disturbance
Gait disturbance
Back pain
```
255
What is the correct position for measuring the length of a child under 2 years old?
Supine; face up
256
What are the most important body proportions in children?
Relationship between Leg length and trunk length
257
What measurements are taken in children?
```
Length/height
Head circumference
Target Height and mid-parental height
BMI
Bone Age
```
258
What can cause delayed bone age variation?
- Constitutional delay of growth
- GH deficiency
- Hypothyroidism
- Malnutrition/Chronic Illness
259
What can cause advanced bone age variations?
```
Tall stature
Premature adrenarche
Overweight
Early puberty
Congenital Adrenal Hyperplasia
Overgrowth syndromes
```
260
What is the Tanner Method Puberty Staging?
```
Breast (1 – 5)
Genital development (1 – 5) (measure with Orchidometry)
Pubic Hair (1 – 5)
Axillary Hair (1 – 3)
Testicular volumes (in mls)
```
261
What Tanner stages indicate True Puberty in girls? Boys?
```
Girls = B2
Boys = T 3-4 (beginnings of testicular enlargement)
```
262
What factors affect height?
Age
Sex - boys are slightly taller than girls before puberty
Race - e.g. Scandinavians are tall, Oriental races are short
Nutrition - particularly important prenatally and in infancy. Contributes to height differences between races
Birth weight - little effect on childhood height unless small for gestational age
Parental heights - the underlying genetic component, a particularly strong influence
Puberty - early developers are taller for age than late developers
Poor health - growth is adversely affected by chronic illness, e.g. Crohn’s disease, chronic renal failure
Specific growth disorders - e.g. growth hormone deficiency, hypothyroidism
Socio-economic status - children from affluent areas are, on average, taller than children from poor areas
Psycho-social deprivation - can cause profound growth retardation
263
What hormones are associated with puberty?
- GnRH
- LH, FSH
- Oestrogen, testosterone
The hypothalamic-pituitary-gonadal axis undergoes an active phase during fetal and neonatal development and then enters a resting phase that lasts for the rest of childhood till puberty. Puberty begins with an activation of the hypothalamic-pituitary-gonadal system. The influence of the hypothalamic hormone GnRH (gonadotropin releasing hormone), the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone), and the sex steroids estradiol or testosterone brings about the manifestations of puberty, both external (breast development, genital enlargement) and internal (uterus, ovaries, testes). Pubic hair develops independently of the activation of the hypothalamic-pituitary-gonadal pathways, largely through the effect of androgens secreted by the adrenal glands (adrenarche).
264
What are the features of Familial Short Stature?
Child short and normal
Parent(s) short and normal
Bone age not delayed
Child destined to become short adult
265
When would you suspect a Constitutional Delay of Growth and Puberty (CDGP)
Child short, normal but looks younger than chronological age
Parent(s) not short, but may have been so in childhood
Bone age delayed
Late puberty and catch-up growth
Final height usually in lower half of target range
266
What are the signs of childhood Growth hormone deficiency?
1. Mild GH deficiency might show no features before school age!
2. Neonatal: hypoglycaemia, prolonged jaundice, micropenis
3. Other anterior pituitary deficiencies
4. Excess subcutaneous fat
5. Mid-face hypoplasia
6. Features of septo-optic dysplasia
7. Delayed skeletal maturation
267
What is Turner’s Syndrome?
```
45XO Chromosome abnormality
Short Stature
Gonadal dysgenesis
Cardiac defect (coarctation of aorta)
Renal anomaly, Hypertension
Hearing problems
```
268
What is Prader-Willi Syndrome?
```
Infantile hypotonia/ feeding problems
Hyperphagia/ obesity in childhood
Short stature
Developmental delay/ Hypogonadism
Deletion of 15q11-q13 chromosomal region
```
269
name 9 clinical features of trisomy 21
1. single palmar crease
2. hypotonia
3. flat face/round head
4. protruding tongue
5. broad hands
6. upward slanted palpebral fissures and epicanthic folds
7. speckled irises
8. intellectual impairment
9. short stature
10. pelvic dysplasia
11. cardiac malformation
12. intestinal atresia
13. high arched palate
14. hypoplasia of the middle phalanx of the fifth finger
270
A 5 y/o boy was diagnosed with asthma aged 3 y/o. He presented to A&E with shortness of breath, increased work of breathing and a 1-week history of coryzal illness and fever. On examination he is tachypnea 60/min, tachycardia 160 bpm and has minimal air entry bilaterally. He has intercostal recession, tracheal tug and is too breathless to complete a sentence Oxygen saturation is 90% on air. What is the initial management of this boy?
Back to back salbutamol and Atrovent through oxygen driven nebuliser
271
A 26 week, premature baby was born by emergency caesarean section due to maternal pre-eclampsia. He required ventilation until age 38 weeks corrected gestation and is still requiring oxygen to maintain his saturations. At 12 months of age he has poor vision and neurodevelopmental function, requires home oxygen and was admitted for a recent respiratory syncytial virus (RSV) bronchiolitis. What is the underlying diagnosis of his respiratory problems?
Chronic lung disease (bronchopulmonary dysplasia)
272
A 5 week old baby was admitted to the children’s ward with bronchiolitis. The nasopharyngeal aspirate identified respiratory syncytial virus (RSV). He was saturating to 96% in air this morning and was feeding 2/3rds of his usual amount of formula milk. You are asked to review him as his work of breathing is worsening now it is night time. He has nasal flaring, intercostal and subcostal recession, tachypnoea and crepitations and wheeze heard bilaterally. What do you expect his capillary blood gas to show?
pH 7.20, PCO2 8.2 kPa, PO2 8.3 kPa (type 2 respiratory failure; respiratory acidosis)
273
An 8 y/o girl is brought to see you, having not opened her bowels in 8 days. She complains of hard painful stools and recurrent abdominal pain for the past 6 months but no vomiting. Her mother thinks that she is avoiding going to the toilet and reports that she has always been a bit irregular opening her bowels, averaging about 2x a week. In her past medical history, she passed meconium on day 1 of life and has had no significant medical problems. On examination she is a well-looking, normally grown child. Her abdomen is soft with a palpable indentable mass in the (L) iliac fossa. The anus is normal, as are her lower limbs. What is the first step in management
Encourage her to increase her fluid intake, dietary fibre and exercise
274
A 10 y/o boy presents with recurrent mouth ulcers, abdominal pain, distension and frequent episodes of diarrhoea with mucus. He has been losing weight. On examination he is slim and plotting his growth shows a fall in weight from the 50th centile to below the 9th. His abdomen is soft with generalised discomfort on deep palpation but no masses are present. What is the most likely diagnosis
Crohn's disease
275
A 15 y/o boy comes to see you, complaining of recurrent abdominal and back passage pain relieved by passage of diarrhoea. He is also complaining of low back and knee pain and last week there was blood mixed into his stool. He has been losing weight recently. On examination he is slim and looks pale. His abdomen is soft but tender in the iliac fossa without masses. What is the most likely diagnosis:
ulcerative colitis
276
A mother brings her 4-week-old baby to see you for the 3rd time. He was born at term by normal vaginal delivery with no complications. You started him on anti-reflux medicine last week but it has not helped. He is now vomiting his whole feeds and is becoming lethargic and passing less urine and stool. His mother says he is hungry even after he vomits. The practise nurses has weighed him and he has lost 200 g since last week. His mother was breastfeeding him while waiting to be seen as you go to examine him, the baby has a large milky vomit, which cascades over the clinic floor. What is the most likely diagnosis?
pyloric stenosis
277
what are the diagnostic tests to detect coeliac disease?
1. serological screens
a. ant-tissue transglutaminase (TTG) antibodies
b. anti-endomysial antibodies
c. antigliadin antibodies
2. duodenal biopsy - gold standard
a. lymphocytic infiltration of the surface epithelium
b. partial or total villous atrophy
c. crypt hyperplasia
3. genetic testing
a. HLA-DQ2
b. HLA-DQ8
278
A 15 month-old girl has come to see you with her father. The family are worried that she has diarrhoea for more than a month, occasional vomiting and is losing weight. She used to be a happy interactive baby but now seems lethargic and miserable most of the time. She has no significant past medical history, the rest of the family are well and there is no history of travel. Her mother has well-controlled type 1 diabetes. The child’s weight at 6 months in the personal child health record (red book) was on the 50th centile but she is now just below the 9th. What is the most likely diagnosis?
coeliac disease
279
A mother brings her 2 y/o to see you. She is very worried that he always has diarrhoea or loose stools he eats a normal diet, and no particular foods seem to upset him but he often still has a bit of vegetables or food he has eaten visible in the stool. She thinks he is losing weight and he is starting to potty train, so she is concerned this will affect his ability to anticipate needing the toilet. On examination he is an alert and well-looking child with a normal capillary refill, heart and respiratory rate. His abdomen is soft with no masses, there is no evidence of wasting and his weight and height are following the 50th centile. What is the most appropriate management?
Reassure the mother, explaining this is toddler’s diarrhoea and he will grow out of it
280
what type of hypersensitivity reaction is serum sickness?
type III
281
A 3-day baby is brought to A&E with acute respiratory distress. She is tachypnoeic, tachycardic, cyanosed and her capillary refill is 5 seconds centrally. You note that she has a flat nasal bridge, down sloping palpebral fissures and epicanthic folds. On auscultation there is a loud ejection systolic murmur at the left sternal edge. WHat is the most likely diagnosis:
Tetralogy of Fallt
282
What is the most common congenital heart defect
Ventricular septal defect
283
A 14 y/o refugee from Afghanistan who has lived in the UK for 2 years comes to see you complaining of increasing fatigue and breathlessness on exertion. On examination she appears cyanosed and has bilateral basal fine crepitations and a soft pansystolic murmur with a displaced apex beat. She has never been in hospital and has no surgical scars. You urgently refer her for a cardiology review. What is the most likely diagnosis?
Eisenmengers syndrome- pulmonary hypertension
284
in terms of radiation, how would you distinguish between pulmonary stenosis and aortic stenosis?
pulmonary stenosis is heard on the left sternal edge and radiates to the back whereas aortic stenosis will be heard at the right sternal border and radiates to the carotids.
285
You are asked to see a 2 y/o child with difficulty in breathing, a runny nose and a barking cough. His mother tells you he had a heart defect repaired as a baby and he still has a murmur. On examination he has noisy breathing with mild subcostal recession. He is apyrexial with a respiratory rate of 44 breaths per minute and a heart rate of 152 beats per minute; capillary refill is 1 - 2 seconds. His throat is red and the tonsils are enlarged with no exudate. On his chest you see a midline sternotomy scar with a drain scar and a right thoracotomy scar. On auscultation the lung fields are clear, but he has an ejection systolic murmur in the (L) upper sternal edge which radiates to the back. He does not have a gallop rhythm. There are transmitted upper airway sounds only on the lung fields and the abdomen is soft with no organomegaly. What is the most appropriate management?
Give oral dexamethasone and observe
286
You are doing a baby check on the postnatal ward on a baby who is 23 hours old. His mother tells you that he is not feeding well. On examination he is unsettled with a respiratory rate of 76 and a heart rate of 182. You think his hands and feet look blue and there is a soft systolic murmur heard at the left upper sternal border. You ask the midwives to check his saturations which are 85% in air and start some oxygen. You explain to the mother that he needs to be managed on the neonatal unit. What is the next step in your management
Give antibiotics and prostaglandin IV while organising an echocardiogram
287
A 5 y/o child was admitted overnight awaiting surgical repair of a broken right ankle and was noted to have a raised blood pressure consistently above 130 / 90 mmHg despite adequate analgesia. On examination he has a plaster on his right foot and appears comfortable at rest. On auscultation there is a soft systolic murmur heard at the right upper sternal edge. His femoral pulse is difficult to find but present bilaterally. When felt with the radial pulse, the impulse in the femoral pulse occurs slightly lower. His abdomen is soft and there are no bruits heard. The blood pressure done in the right arm is 136 / 92 mmHg but the left arm gives a reading of 124 / 80 mmHg. What is the most likely diagnosis:
coarctation of the aorta
288
what tests should you perform for suspected renal pelvis dilatation?
scans at birth and 6 weeks.
renal function tests
prophylactic antibiotics are given if confirmed.
may come up in exam so repeat until you know this for renal pelvis dilatation
289
in paediatrics, when should you be worried about a spinal dimple? suggest 4 things
Worrying if dimple is
1. large
2. red
3. swollen
4. off midline
5. higher than sacral area
6. pigmented
7. tender
8. accompanied by fluid.
perform an US and MRI scan
290
Klumpke's paralysis will result in the Waiter's tip appearance, true or false?
false.
291
what are the two most important tests to do for developmental dysplasia of the hip?
1. Ortalani's
2. Balow's
3. Geleazzi
must know
can also check
1. leg length
2. movement
3. groin creases
treatment is with a pavlik harness
292
1. what is the management of club foot (talipes equinovarus)
| 2. what are the 3 necessary components for diagnosis of talipes equinovarus (definitely coming up in exam)
Treatment is Ponsetti method in which the foot is manipulated and placed in a long leg plaster cast (which aims to correct the forefoot adduction and hindfoot varus deformity) on repeated occasions.
it is important that the deformity correction is gradual. if this does not work, soft tissue release between ages 6 and 12 months (with further surgery on bones if required later childhood)
2
a. inversion
b. adduction of the forefoot relative to the hindfoot (which is in varus)
c. equinus (plantarflexion) deformity
293
A 3 y/o presents with lip lesions for 5 days. They are erythematous but crusted. The child is well.
1. what is the diagnosis:
2. What would you treat it with:
1. Impetigo
| 2. Fusidic acid (topical) & flucloxacillin (oral)
294
A 5 y/o child develops itchy red papules and vesicles over her legs, arms and trunk. She has a runny nose and is irritable but observations / vital signs only demonstrate a mild fever.
What is the diagnosis?
Chicken pox
295
which organism causes scarlet fever?
it is caused by group A strep.
```
presentation with
Strawberry tongue
Malaise, fever, tonsillitis
Rash
Squamation of hands and
feet
```
treat with penicillin
296
what is the treatment for scarlet fever?
penicillin
297
how does scarlet fever present?
1. Strawberry tongue
2. Malaise, fever,
3. Rash
4. Squamation of hands and
feet
5. tonsillitis
