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ALL / Rheumatology

Osteopetrosis

Osteopetrosis

Overview
  • also known as marble bone disease
  • rare disorder of defective osteoclast function resulting in failure of normal bone resorption
  • results in dense, thick bones that are prone to fracture
  • bone pains and neuropathies are common.
  • calcium, phosphate and ALP are normal
  • stem cell transplant and interferon-gamma have been used for treatment
+PassMedicine Notes
Overview
  • also known as marble bone disease
  • rare disorder of defective osteoclast function resulting in failure of normal bone resorption
  • results in dense, thick bones that are prone to fracture
  • bone pains and neuropathies are common.
  • calcium, phosphate and ALP are normal
  • stem cell transplant and interferon-gamma have been used for treatment


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Osteopetrosis
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