[Value of in vitro study of osteoclast precursors in the case of severe infantile osteopetrosis treated by bone marrow graft]

Arch Pediatr. 1997 Apr;4(4):335-8. doi: 10.1016/s0929-693x(97)86450-0.
[Article in French]

Abstract

Background: Pathogenesis of osteopetrosis is still debated. Testing the ability of osteoclastic progenitors to support the proliferation of functional cells may be useful in understanding pathogenesis.

Case report and methods: A diagnosis of osteopetrosis was made in a girl 1 month-old, born to consanguuineous parents. Bone marrow transplantation was uneffective at the age of 3 months but a second engraftment was successful at 5 months. Unfortunately, the patient died from severe thrombocytopenia at the age of 8 months. Long-term cultures of mononucleated cells from the patient's blood were performed before and after the bone marrow transplantation, with or without growth factors such as vitamin D3, IL-6 and IL-1. Similar studies were made from the patient's marrow obtained after transplantation; all results were compared with those obtained after culturing control cells from cord blood umbilical.

Results: Production of osteoclastic cells was mild in peripheral blood cultures; it was important in bone marrow cultures in presence of growth factors.

Conclusion: These results suggest that osteopetrosis in our patient resulted from an intrinsic defect in progenitors of osteoclasts.

Publication types

  • Case Reports
  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Cells / pathology
  • Bone Marrow / pathology
  • Bone Marrow Transplantation*
  • Cell Differentiation
  • Cells, Cultured
  • Female
  • Humans
  • In Vitro Techniques
  • Infant
  • Osteoclasts / pathology*
  • Osteopetrosis / pathology*
  • Osteopetrosis / therapy*
  • Postoperative Period