Paediatric Clinical Chemistry Flashcards

1
Q

Which infants are most at risk?

A

Babies who weigh <1000g are likely to be born before around 30-weeks’ gestation

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2
Q

What are common problems in infants with LBW?

A

Respiratory distress syndrome (RDS)
- Common before 34th week of pregnancy
- Lack the surfactant protein in the lungs

Retinopathy of prematurity (ROP)
- An abnormal growth of blood vessels in the eye –> vision loss

Intraventricular haemorrhage (IVH)

Patent ductus arteriosus (PDA)

Necrotising enterocolitis (NEC)
- Inflammation of the bowel wall –> necrosis and perforation
- Symptoms = bloody stools, abdominal distension, intramural air

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3
Q

What is the timeline for nephron developement?

A

Nephrons start to develop from week 6 –> produce urine from week 10 –> full complement from week 36

Functional maturity of GFR is not reached until 2 years of age

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4
Q

Why are babies susceptible to acidosis?

A

Low GFR for surface area
Cannot exchange H+ at an appropriate level

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5
Q

Why is the renal threshold for glycosuria lower in neonates?

A

Short proximal tubule
Lower reabsorptive capability

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6
Q

Why do neonates have a persistent loss of sodium?

A

Distal tubule are relatively unresponsive to aldosterone

Leads to reduces potential potassium excretion (6.0mmol/L is upper limit for neonates)

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7
Q

Why do all babies lose weight in the first week of life?

A

Redistribution of water
In utero greater ECF
After birth pulmonary resistance goes down –> release of ANP –> redistribution of the fluid

Roughly 40 ml/kg is normal in a term baby (higher (100 ml/kg) in a preterm baby)

Babies can lose up to 10% of their birth weight in the first week of life and this is not a problem

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8
Q

Summarise the differences in neonatal kidneys

A

Low GFR for their surface area –> slow excretion
Short proximal tubule –> lower resorptive capability + reduced reabsorption of bicarbonate
LoH and distal collecting ducts are short and juxtaglomerular –> reduced concentrating ability
DCT unresponsive to aldosterone –> persistent sodium loss (and K+ retention)

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9
Q

Why are neonates prone to electrolyte disturbances?

A

High insensible water loss
Drugs
Growth (give large amounts of feed, Na, for growth)

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10
Q

What causes high water losses in neonates?

A

High surface area
High skin blood flow
High metabolic/respiratory rate
High transepidermal fluid loss (skin is not keratinised in premature infants)

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11
Q

What is congenital adrenal hyperplasia?

A

Most common cause is 21-hydroxylase (21-OH) deficiency –> reduced cortisol / aldosterone –> salt loss

The lack of 21-OH –> accumulation of 17-OH progesterone and 17-OH pregnenolone

These then go on to produce high levels of androgens

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12
Q

What are clinical features of congential adrenal hyperplasia?

A

Hyponatraemia/hyperkalaemia with volume depletion (lack of aldosterone) –> salt-losing crisis

Hypoglycaemia (lack of cortisol)

Ambiguous genitalia in female neonates (not obvious in male neonates – present with salt-losing crisis)

Growth acceleration

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13
Q

Why do neonates get hyperbilirubinaemia?

A

High level of bilirubin synthesis
Low rate of transport into the liver
Enhanced enterohepatic circulation
Will be unconjugated

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14
Q

What is bilirubin encephalopathy (Kernicterus)?

A

1g/L of albumin binds 10micromol/L of bilirubin
Average albumin at term is 34g/L (lower in prematurity)

Albumin in a term baby can bind about 340micromol/L

Rest (free bilirubin) crosses BBB

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15
Q

What are some pathological causes of hyperbilirubinaemia in neonates?

A

Haemolytic disease (ABO, rhesus, etc.)
G-6-PD Deficiency
Crigler-Najjar syndrome (deficiency of conjugation)

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16
Q

What is the treatment for hyperbilirubinaemia?

A

Phototherapy
Exchange transfusion

17
Q

What is prolonged jaundice in neonates?

A

jaundice that lasts for >14 days in term babies and >21 days in pre-term babies

18
Q

What are causes of prolonged jaundice?

A

Prenatal infection/sepsis/hepatitis
Hypothyroidism (screened at day 6-8)
Breast milk jaundice

19
Q

When do you worry with hyperbilirubinaemia in a neonate?

A

Getting too high
It is CONJUGATED bilirubin that is high
Conjugated bilirubin >20 micromol/L is ALWAYS pathological

20
Q

What are causes of high cBilirubin in neonates?

A

Biliary atresia
Choledocal cyst
Ascending cholangitis (caused by lipids in TPN)
Inherited metabolic disorders e.g. galactosaemia/alpha 1-AT def

21
Q

What is the treatment for biliary atresia?

A

Surgery is needed
< 6 weeks is most effective

22
Q

What happens in osteopenia of prematurity?

A

Fraying, splaying and cupping of long bones

23
Q

What is the biochemistry for osteopenia of prematurity?

A

Calcium NORMAL
Phosphate is <1 mmol/L
ALP >1200 U/L (10 x adult ULN)

24
Q

What is the treatment for osteopenia of prematurity?

A

Phosphate/calcium supplements
1-alpha calcidol

25
Q

How do children with rickets present?

A

Frontal bossing
Bowlegs/knock knees
Muscular hypotonia

Tetany/hypocalcaemic seizure
Hypocalcaemic cardiomyopathy