Human malignant osteopetrosis: Pathophysiology, management and the role of bone marrow transplantation

@article{Fasth1999HumanMO,
  title={Human malignant osteopetrosis: Pathophysiology, management and the role of bone marrow transplantation},
  author={Anders Fasth and Oscar Porras},
  journal={Pediatric Transplantation},
  year={1999},
  volume={3}
}
Abstract: steopetrosis is a heterogeneous group of diseases characterized by lack of osteoclast function. Osteopetrosis is found spontaneously in most mammalian species and many transgenic animals have been created, but so far no animal model has been found that genetically corresponds to human malignant autosomal recessive osteopetrosis. The only curative treatment for malignant osteopetrosis is bone marrow transplantation. A review of the literature and preliminary data from IBMTR shows that… 
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Among several hypotheses for the patient's survival and progress, the most plausible seems to be the transient and long‐term engraftment of sufficient numbers of donor marrow mesenchymal cells, forming functional osteoblasts and perhaps chondrocytes, to ameliorate her skeletal disease.
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A rare case of malignant osteopetrosis is reported with special emphasis on the diagnosis and management and the classical features of the disease are fractures, visual impairment, and bone marrow failure.
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