Rickets and Osteomalacia: Pathogenesis and Clinical Findings
• Calcification inhibitors (excess exposure to A1, Fluoride, etidronate)
• Lack, or reduced function, of mineralization enzymes (like ALP)
• Lack of bone mineral components:
1. Phosphate: renal tubule disorders, vit D or Phosphate deficiency, Incr FGF23
2. Calcium: severe deficiency (infants)
• Abnormal Vitamin D Metabolism: Deficiency, hereditary disorders of synthesis or vitamin D receptor
=> Bone mineralization defect (Osteopenia with reduced mineralization)
• Rickets: Occurs before epiphyseal closure
• Osteomalacia: Occurs after epiphyseal closure
=>
• Short stature
• Diffuse skeletal pain (bone tenderness)
• Bowed legs
• Fractures
• Proximal muscle, weakness manifesting often as gait disturbances
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