Chem path 7s - Paediatric clinical chemistry Flashcards

1
Q

What is the earliest gestation which you’d deliver a child?

A

24 weeks

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2
Q

What are some problems commonly seen in premature babies?

A
RDS
Retinopathy of prematurity
IVH
PDA
NEC
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3
Q

What are the features of NEC?

A
Bloody stools
Abdominal distension
Intramural air (pneumatosis intestinalis)
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4
Q

At what gestation do nephrons develop?

A

6 weeks (full complement of nephrons by 36 weeks)

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5
Q

What gestation do nephrons start producing urine?

A

10 weeks

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6
Q

At what age is functional maturity of GFR reached?

A

2 years

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7
Q

Baby kidney anatomy: glomerulus

A

Large SA: vol ratio therefore relatively low GFR for their SA –> slow excretion of solute load
Limited amount of Na+ available for H+ exchange so more susceptible to acidosis

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8
Q

What are two reasons why neonates are more prone to acidosis?

A

Limited Na+ available for H+ exchange + reabsorption of bicarbonate is not as effective

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9
Q

Proximal convoluted tubule in neonates

A

Shorter than adults therefore lower resorptive capability and therefore renal threshold for glycosuria is lower

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10
Q

Loop of Henle/DCT in neonates

A

Shorter and thus reduced concentrating ability. DCT relatively unresponsive to aldosterone so constantly losing sodium and reduced K+ excretion

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11
Q

What is the upper limit of normal for K+ in neonates?

A

6.0mmol/L (compared to 5.5. in adults)

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12
Q

How much weight can babies lose in the 1st week of life and be normal?

A

10% loss of their body weight in 1st week is considered normal

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13
Q

How mcuh more water do neonates need per day than adults?

A

6x more

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14
Q

Na+ and K+ requirementes in neonates vs adults

A

Higher

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15
Q

Causes of high insensible water loss in neonates

A

High SA:volume ratio
Increased resp/metabolic rate
High skin blood flow
High transepidermal fluid loss (skin is not fully keratinised in preterm neonates)

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16
Q

When is hypernatraemia normal in neonates?

A

Normal in first 2 weeks, suggests dehydration after 2 weeks

17
Q

Most common cause of hyponatraemia in neonates

A

CAH - 21-Hydroxylase deficiency

18
Q

In a prem baby, why are the thresholds to treat hyperbilirubinaemia lower?

A

They have less albumin and a leakier BBB

19
Q

What is NICE’s definition of prolonged jaundice?

A

Jaundice >14 days in a term baby or >21 days in prem baby

20
Q

a conjugated bilirubin level above what threshold is always pathological in neonates?

A

> 20umol/L

21
Q

What are some causes of raised conjugated bilirubin?

A

Biliary atresia
Choledochal cyst
Ascending cholangitis from TPN, inherited metabolic diseases

22
Q

Which 4 inherited metabolic diseases cause a conjugated hyperbilirubinaemia?

A

Galactosaemia
Alpha-1-antitryptase deficiency
Tyrosinaemia 1
Peroxisomal diseases

23
Q

Investigations in galactosaemia

A

RBC Gal-1- PUT

24
Q

Investigations in alpha-1-antitryptase deficiency

A

Alpha-1-antitryptase

25
Investigations in tyrosinaemia 1
Plasma amino acids
26
Investigations in peroxisomal diseases
Very long chain fatty acid profile
27
Calcium level in a prem vs term baby
Lower in prem
28
Phosphate level in babies vs adults
Higher as babies better at reabsorbing phosphate
29
What are the radiographic features of osteopaenia of prematurity?
Fraying, splaying and cupping of long bones
30
What is the biochemistry in osteopaenia of prematurity?
Calcium normal Phosphate <1 mmol/L ALP >12,000 (10X adult ULN) Vitamin D (Rarely measured)
31
Management of osteopaenia of prematurity
Phosphate/calcium (Can't give at same time) | 1-alpha-calcidol
32
Name the 3 genetic causes of rickets
Pseudo-vitamin D deficiency I Pseudo-vit D deficiency II Familial hypophosphataemia
33
Difference between pseudo-vit D deficiency I and II
Type I = Renal hydroxylation defect | Type II = receptor defect
34
Management of pseudo vit D deficiency I and II
1,25- OH vitamin D (calcitriol)