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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