Chemical Pathology 21 - Paediatric clinical chemistry Flashcards

(33 cards)

1
Q

What is retinopathy of prematurity?

A

abnormal growth of blood vessels in eye → vision loss

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2
Q

What is NEC?

A

Inflammation of bowel wall → necrosis and perforation
Symptoms = bloody stools, abdominal distension, intramural air

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3
Q

When do nephrons start to

  1. develop
  2. produce urine
  3. full complement
  4. reach functional maturity of GFR
A
  1. week 6
  2. week 10
  3. week 36
  4. 2 years
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4
Q

How is a baby’s glomerulus different to an adult’s?

A

large SA:V (relatively low GFR for their surface area) →

  • Slow excretion of solute load
  • Limited amount of Na+ available for H+ exchange
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5
Q

How is a baby’s proximal convoluted tubule different to an adult’s?

A

short PCT → lower resorptive capability

  • BUT renal threshold for glycosuria much lower in neonates - glycosuria appears at a lower plasma glucose level in neonates
  • Reabsorption of bicarbonate also not as effective (→ neonates’ propensity to acidosis)
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6
Q

How is a baby’s Loop of Henle/distal convoluted tubule different to an adult’s?

A

short → ↓ concentration ability

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7
Q

How do Na and K levels compare in neonates vs adults?

A
  • DCT less responsive to aldosterone > persistent loss of Na (1.8 mmol/kg/day)
  • ↓ K excretion → higher upper limit of normal K in neonates (6 vs 5.5)
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8
Q

why do babies lose weight in the first week of life?

A

In utero - babies have more ECF than adults

Birth - ↓ pulmonary resistance → ANP release → redistribution of fluid

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9
Q

What % weight loss is acceptable for babies in their first week of life?

A

10%

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10
Q

Why do babies require more fluids than adults?

A

High insensible water loss

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

Drugs

  • Bicarbonate (for acidosis) → **↑ Na content
  • Antibiotics ↑ Na content (sodium salts)
  • Caffeine/theophylline (for apnoea) → renal Na loss
  • Indomethacin (for PDA) → oliguria
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11
Q

Why might there be hypernatraemia in a baby >2w?

A

Hypernatraemia >2 weeks of age uncommon - usually associated with dehydration

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12
Q

What are some potential causes for repeated hypernatraemia in babies?

A

Salt poisoning

Osmoregulatory dysfunction

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13
Q

Recall a cause for hyponatraemia in babies

A

Congenital Adrenal Hyperplasia (CAH)

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14
Q

Recall the pathophysiology of CAH

A

21-hydroxylase (21-OH) deficiency → ↓ cortisol / aldosterone → salt loss → hyponatraemia

↓ 21-OH → ↑ precursors 17-OH progesterone + 17-OH pregnenolone → ↑androgens

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15
Q

Recall the clinical features for CAH

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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16
Q

What happens to Hb after birth?

A

↓Hb as you start making HbA

17
Q

Reasons for Neonatal Hyperbilirubinaemia

A

unconjugated hyperbilirubinaemia

↑ bilirubin synthesis

↓ rate of transport into the liver

Enhanced enterohepatic circulation

18
Q

What complication may arise from excess bilirubin in the neonate?

A

Unbound, free bilirubin crosses BBB → kernicterus (bilirubin encephalopathy)

19
Q

Which protein binds bilirubin?

20
Q

What is the bilirubin treatment level for phototherapy?

A

term

350 total serum BR micromol/L

prem

120 total serum BR micromol/L

21
Q

What is the bilirubin treatment level for exchange transfusion?

A

term

450 total serum BR micromol/L

prem

230 total serum BR micromol/L

22
Q

Why is there a lower treatment threshold level in premature infants?

A

because albumin is lower, and BBB is leakier

23
Q

define prolonged jaundice

A

>14 days in term babies

>21 days in pre-term babies

24
Q

Causes of prolonged jaundice

A

Prenatal infection/sepsis/hepatitis

Hypothyroidism (screened at day 6-8)

Breast milk jaundice

25
Causes of conjugated hyperbilirubinaemia
ALWAYS pathological * Biliary atresia (most common) * Ascending cholangitis in TPN * Inherited metabolic disorders
26
How would you treat biliary atresia?
Early surgery is essential (\<6 months)
27
What are some causes of inherited metabolic diseases?
Galactosaemia - Urine reducing substances, RBC Gal-1-PUT Alpha-1-anti-tryptase deficiency Tyrosinaemia 1 - Plasma amino acids Peroxisomal disease - v long chain fatty acid profile
28
How does Ca and PO4 compare in children and adults?
Calcium and PO4 laid down in LAST trimester After birth, all babies' calcium will ↓ Phosphate higher in babies as they are good at reabsorbing phosphate
29
What is osteopoenia of prematurity?
fraying, splaying and cupping of long bones due to substrate deficiency
30
How are Ca, PO4, ALP and vit D levels in osteopoenia of prematurity?
Ca - normal Po4 - low ALP - HIGH vit D - rarely measured in neonates
31
What is the treatment for osteopoenia of prematurity?
Phosphate/calcium supplements 1-alpha calcidol
32
What is rickets?
osteopenia due to deficient activity of vitamin D
33
Recall the signs and symptoms of rickets
Frontal bossing Bowlegs/knock knees Muscular hypotonia Alternative presentations: * Tetany/hypocalcaemic seizure * Hypocalcaemic cardiomyopathy