Rickets (2)

Question 1

What is this?

What’s it caused by?

What is its pathophysiology?
→ What does the Low Ca also lead to?

What are the causes of Vit D deficiency?

Answer 1

➊ Loss of bone mineralisation (Soft bones) – Paediatric version of Osteomalacia

➋ Vit D or Calcium Deficiency

➌ Vit D is needed for Ca and Ph absorption from the gut and kidneys, as well as regulating bone turnover and promoting bone reabsorption to boost Ca levels
• Deficiency leads to Low Ca and Ph, therefore less bone mineralisation
→ Secondary hyperparathyroidism

➍ • Darker skin
• Lack of sun exposure
• Malabsorption e.g. IBD
• CKD

Question 2

How does it present?

Answer 2

• Bone deformity – Bowing of legs, Knock knees
• Aching bones and joints
• Pathological fractures
• Lethargy

Question 3

Which investigations should be done?

How is it managed?

Answer 3

➊ • 25-Vit D - < 25 nmol/L is diagnostic of a deficiency
• XR
• Bloods – Ca, Ph, PTH, ALP, FBC, CRP, ESR, U&E, LFTs, TFTs, Anti-TTG

➋ • Prevention – Breastfed babies are at higher risk of Vit D deficiency than formula fed (formula has a lot more Vit D)
• Vit D supplementation - Ergocalciferol (Vit D)