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Case Discussion VDRR2 28.07.1399

  • A 14 y/o boy :
    - known case of VDDR 2
    - Delay in teething
    - Delay in walking
    - Seizure in the age of 12 months
    - Bowing of lower limbs
    - Lack of bone change
    - Radiological findings are currently normal
    - Progressive Alopecia from the age of 12 months
    - Hyperphosphatemia, Hypocalcemia
    - High ALP, high PTH , normal low 25(OH)D
    Diagnostic approach to VDDR 2 ?
  • What is the cause of hyperphosphatemia in this patient ?
  • What is the reason for the lack of bone change in this patient ?
  • What is the effect of the onset of puberty in this disease ?
  • What is the cause and treatment of alopecia in this patient ?
  • What is the treatment of this patient ?