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MBChB IV Paediatrics > Metabolic bone disease > Flashcards

Metabolic bone disease Flashcards

1
Q

Discuss your approach to metabolic bone disease causes

A 
D/o of mineralisation
- vitamin D deficiency
D/o of matrix formation
- osteogenesis imperfecta
D/o of excessive/reduced bone absorption 
- hyperparathyroidism
- osteopetrosis
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2
Q

What is the most common cause of rickets in infants?

A

Vitamin D deficiency

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3
Q

What is the most common cause of rickets in older children?

A

Dietary calcium deficiency

Inherited hypophosphataemia

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4
Q

What abnormalities can occur with the metabolism of vitamin D?

A
  1. Nutritional
  2. Impaired absorption
  3. Impaired hydroxylation
  4. Incr metabolism
  5. Decr renal synthesis
  6. End organ resistance
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5
Q

Which substances cause poor calcium bioavailability?

A

Phytates

Oxalates

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6
Q

Name risk factors for vitamin D deficiency

A 
Lack of sunlight exposure
Incr skin pigementation
Prolonged breastfeeding
Prem
Mother vitamin D deficient
Vegetarian diet
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7
Q

Name causes of impaired vitamin D absoprtion

A

Steatorrhoea
Biliary obstruction
Neonatal hepatitis

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8
Q

Name causes of impaired vitamin D hydroxylation

A

Immature liver
Prem
Severe liver disease

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9
Q

Name causes of increased vitamin D metabolism

A

Phenobarbitone

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10
Q

Name causes of decreased renal synthesis of 1,25 dihydroxyvitamin D

A

Renal failure

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11
Q

What abnormalities can occur with the metabolism of phosphate?

A
  1. Nutritional
  2. Impaired absorption
  3. Renal loss
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12
Q

Name causes of impaired phosphate intake

A

Prem (soya bean prep)

VLBW (BF not enough)

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13
Q

Name causes of impaired intestinal phosphate absorption

A

Aluminum hydroxide

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14
Q

Name causes of impaired renal loss of phosphate

A
  1. Hypophosphataemia
  2. Fanconi syndrome
  3. Distal tubular acidosis
  4. Tumour induced
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15
Q

What genetic forms are there of hypophosphataemic rickets?

A

X linked
AD
AR

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16
Q

Which gene is involved in X linked hypophosphataemic rickets

A

PHEX (inactivation)

17
Q

Which gene is involved in autosomal dominant hypophosphataemic rickets

A

FGF23 (activation)

18
Q

Which gene is involved in autosomal recessive hypophosphataemic rickets

A

DMP1 (inactivation)

ENPP1 (inactivation)

19
Q

What is Fanconi syndrome?

A

A syndrome of inadequate reabsorption in the proximal renal tubules of the kidney

20
Q

Name causes of Fanconi syndrome

A 
Cystinosis
Lowe's syndrome
Tyrosinaemia
Galactosaemia
Hereditary fructose intolerance
Wilson's disease
Heavy metal toxicity
Idiopathic
21
Q

What do you need to consider in a child with FTT, acidosis and rickets?

A

Distal tubular acidosis

22
Q

Name clinical features of metabolic bone disease

A 
Bony deformity
Short stature
Developmental delay
Hypotonia
Proximal mm weakness
Convulsions
Metabolic acidosis
Recurrent LRTIs
23
Q

Name bony deformities

A 
Widening of long bone metaphysis
Bow legs
Genu varum
Harrison's sulcus
Rickety rosary
Craniotabes
Frontal/parietal bossing
Kyphoscoliosis
24
Q

Name radiological features of rickets

A 
Delayed epiphyseal development
Growth plate widening
Splaying + cupping of metaphysis
Irregularity and fraying of metaphysis end
Osteopenic bones
Thin cortices
Trabecular patterns
Subperiosteal erosions
25
Q

Name causes of hypocalcemia biochemically

A

Actual decrease

Hypoalbuminaemia

26
Q

How do you treat nutritional vitamin D deficiency?

A

1000-5000IU/day 6w-3m

27
Q

How do you treat convulsions or apneic attacks in nutritional vitamin D deficiency?

A

Calcium gluconate 10% 1-2ml/kg as slow ivi infusion

28
Q

How do you treat impaired absorption vitamin D deficiency?

A

10000-50000IU/day

29
Q

How do you treat increased metabolism vitamin D deficiency?

A

100IU/day

30
Q

How do you treat decreased renal synthesis vitamin D deficiency?

A

25000-50000IU/day
OR
0.5ug/day 1.25OH D3

31
Q

Name an oral phosphate binding agent

A

Calcium carbonate

32
Q

What is the daily recommended dietary calcium intake?

A

800-1200mg/day

33
Q

How do you treat hypophosphataemic rickets?

A
  1. Incr oral phosphate intake
    - Joulies solution: 1.5-3g phosphorus/24 hours in 4-5 divided doses
    OR
    - Phosphate enema 5-15ml q6h orally
  2. Give calcium
    - 0.5ug 1.25OH D3 daily
  3. Give treatment until late adolescence
34
Q

How do you treat distal renal tubular acidosis?

A

2-3mmol/kg/day Shohl’s solution

35
Q

How do you diagnose osteoporosis in children?

A

Presence of clinically significant fracture
history
1. 1 or > of the following
- 1 long bone fracture of lower extremities
- 1 vertebral compression fracture
- 2 or > long bone fractures of upper extremities
2. Low bone mass / mineral content
- DEXA BMD z score ≤ 2
- Adjusted for age, sex & body size

36
Q

Name causes of osteoporosis

A
  1. Decr bone matrix formation
    - osteogensis imperfecta
    - corticosteroid excess
    - PEM
    - vitamin C deficiency
    - copper deficiency
  2. Incr bone resorption
    - immbolisation
    - marrow hyperplasia
    - juvenile idiopathic osteoporosis
    - hyperparathyroidism

MBChB IV Paediatrics (81 decks)

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