Paediatric Clinical Chemistry Flashcards

1
Q

What are clinical issues surrounding low birth weight?

A

Respiratory distress syndrome (RDS)

Retinopathy of prematurity (ROP)

Intraventricular hemorrhage (IVH)

Patent ductus arteriosus (PDA)

Necrotizing enterocolitis (NEC)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is NEC?

A

Inflammation of the bowel wall progressing to necrosis and perforation

Bloody stools

Abdominal distension

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is this?

A

Intramural air, a sign of NEC

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the normal development of the nephrons?

A

Develop from week 6.

Start producing urine from week 10.

Full complement from week 36.

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are defects within renal function and how do these translate clinically?

A

Low GFR for surface area; consequences are:

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

Short proximal tubule means there is a lower reabsorptive capability than in the adult although reabsorption is usually adequate for the small filtered load.

Loops of Henle/distal collecting ducts are short and juxtaglomerular giving a reduced concentrating ability with a maximum urine osmolality of 700 mmol/kg.

Distal tubule is relatively unresponsive to aldosterone which leads to a persistent loss of sodium of c.1.8 mmol/kg/day.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are causes of electrolyte disturbances?

A

High insensible water loss:

  • High surface area
  • High metabolic/respiratory rate
  • High transepidermal fluid loss

Drugs:

  • Bicarbonate (for acidosis)
  • Antibiotics
  • Caffeine/theophylline (for apnoea)
  • Indomethacin (for PDA)
  • Growth (or rather a lack of it)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is hypernatraemia in children?

A

Hypernatraemia after 2 weeks of age is uncommon and is usually associated with dehydration.

Salt poisoning and osmoregulatory dysfunction are rare but should be considered in cases of repeated hypernatraemia without obvious cause.

Routine measurement of urea, creatinine and electrolytes on paired urine and plasma on admission may differentiate these rare causes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are causes of hyponatraemia?

A

Congenital adrenal hyperplasia (1in 15000)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are signs and symptoms of congenital adrenal hyperplasia?

A

Hyponatraemia/hyperkalaemia with marked volume depletion

Hypoglycaemia

Ambiguous genitalia in female neonates

Growth acceleration (in child)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is hyperbilirubinaemia?

A

High level of synthesis (RBC breakdown)

Low rate of transport into liver

Enhanced enterohepatic circulation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is Kernicterus?

A

1g/l albumin binds 10 micromol/l bilirubin

Average albumin at term 34 g/l (lower in prem)

Free bilirubin crosses the blood brain barrier and causes Kernicterus (bilirubin encephalopathy)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are causes of hyperbilirubinaemia?

A

Haemolytic disease (ABO, rhesus etc)

G6PD deficiency

Crigler-Najjar syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is prolonged jaundice?

A

Prolonged jaundice is jaundice that lasts for more than 14 days in term babies and more than 21 days in preterm babies.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are causes of prolonged jaundice?

A

Prenatal infection/sepsis/hepatitis

Hypothyroidism

Breast milk jaundice

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are causes of conjugated hyperbilirubinaemia?

A

Conjugated/direct bilirubin >20 mmol/l is always pathological.

Biliary atresia, choledocal cyst

  • 1/17,000 UK
  • 20% associated with cardiac malformations, polysplenia, sinus inversus
  • Early surgery essential

Ascending cholangitis in TPN: Related to lipid content.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are signs of osteopaenia of prematurity?

A

Fraying, splaying and cupping of long bones.

17
Q

What is the biochemistry of osteopaenia of prematurity?

A
  • Calcium within reference range
  • Phosphate <1mmol/L
  • Alk phos >1200 U/l ( 10 x adult ULN)

Vitamin D rarely measured in neonate.

Some evidence of low renal formation of 1,25 OHD but most believe it is due to substrate deficiency.

18
Q

What is rickets?

A

Refers to osteopenia due to deficient activity of Vit D.

19
Q

What is the presentation of rickets?

A

Frontal bossing

Bowlegs/knock knees

Muscular hypotonia

Tetany/hypocalcaemic seizure

Hypocalcaemic cardiomyopathy

20
Q

What is transient hyperphosphatasaemia?

A

Benign

Very high ALP – distinguishable by electrophoresis

21
Q

What are genetic causes of rickets?

A

Pseudo vitamin D deficiency I: Defective renal hydroxylation.

Pseudo vitamin D deficiency II: Receptor defect

Familial Hypophosphataemias: Low tubular maximum reabsorption of phosphate. Raised urine phosphoethanolamine.