Essay 7- Rickets deformations
- Definition of rickets
- Disease affecting mostly bones and their mineralisation
- Occurs mainly in children in the first year of their lives (usually at end of winter)
- Etiology of rickets
- Vitamin D deficiency- leads to insufficient calcium
- Phosphate deficiency
- Medications- bisphosphonates, aluminuim, fluoride
- Hereditary hypophosphatasia
- Reduced sunshine exposure
- Impaired suction
- Renal glomerular failure
- Bone deformations
- Bowing (primarily of long bones)
- Thickening of the ankles, wrist and knees
- Bowed legs (genu varum)
- Outward curving of legs at knee joint!
- Delayed tooth eruption
- Rachitic rosary (a row of beadlike prominences at the junction of a rib and its cartilage)
- Frontal bossing
- Craniotabes (demineralized area or softening of the skull)
- Enlarged epiphysis
- Delayed frontanelle closure
Rickets secondary to vitamin D deficiency
Etiology
- Vitamin D deficiency due to:
- Insufficient synthesis due to low UV radiation exposure (e.g., northern climates) and/or dark skin
- Insufficient oral intake (e.g., in infants who are exclusively breastfed)
- Malabsorption
- Defective vitamin D metabolism
Pathophysiology
Vitamin D deficiency → defective mineralization of osteoid and growth plates
Diagnostics
↓ Vitamin D, ↓ serum Ca²⁺, ↑ PTH, ↓ PO₄³⁻, ↑ ALP
Treatment
- Dietary supplementation (vitamin D, calcium)
- Treatment of underlying cause