Recombinant human interferon gamma therapy for osteopetrosis

J Pediatr. 1992 Jul;121(1):119-24. doi: 10.1016/s0022-3476(05)82557-0.


A defect in leukocytic superoxide formation has been demonstrated in patients with congenital osteopetrosis. This leukocyte defect appears to be related to defective bone resorption. Because recombinant human interferon gamma therapy enhances superoxide production in patients with chronic granulomatous disease, we sought to determine whether a similar strategy could reverse the osteopetrotic condition. Interferon gamma, 1.5 micrograms/kg three times a week, was administered by subcutaneous injection for 6 months to eight patients with osteopetrosis. Urinary hydroxyproline and urinary calcium excretion increased markedly during therapy in parallel with a significant decrease in trabecular bone volume. Bone marrow scans demonstrated increased bone marrow production. The hemoglobin concentration, platelet count, and leukocyte production of superoxide increased significantly. No serious infections were encountered during the therapy. These data suggest that interferon gamma administration enhances bone resorption and leukocyte function in patients with osteopetrosis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Bone Marrow / pathology
  • Bone Resorption / metabolism
  • Bone and Bones / metabolism
  • Bone and Bones / pathology
  • Calcium / urine
  • Calcium, Dietary / administration & dosage
  • Child
  • Child, Preschool
  • Hearing / physiology
  • Hemoglobins / analysis
  • Humans
  • Hydroxyproline / urine
  • Infant
  • Injections, Subcutaneous
  • Interferon-gamma / administration & dosage
  • Interferon-gamma / adverse effects
  • Interferon-gamma / therapeutic use*
  • Osteoclasts / pathology
  • Osteopetrosis / pathology
  • Osteopetrosis / therapy*
  • Osteopetrosis / urine
  • Platelet Count
  • Recombinant Proteins
  • Superoxides / metabolism


  • Calcium, Dietary
  • Hemoglobins
  • Recombinant Proteins
  • Superoxides
  • Interferon-gamma
  • Hydroxyproline
  • Calcium