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Human malignant osteopetrosis: Pathophysiology, management and the role of bone marrow transplantation
Author(s) -
Fasth Anders,
Porras Oscar
Publication year - 1999
Publication title -
pediatric transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.457
H-Index - 69
eISSN - 1399-3046
pISSN - 1397-3142
DOI - 10.1034/j.1399-3046.1999.00063.x
Subject(s) - osteopetrosis , medicine , bone marrow , sibling , transplantation , bone marrow transplantation , pathology , stem cell , osteoclast , osteochondrodysplasia , immunology , genetics , biology , psychology , developmental psychology , receptor
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 infants transplanted with marrow from an HLA‐identical sibling or unrelated volunteer donor have an actuarian five‐year survival with a functioning graft of 50–70%, while those transplanted with a T‐cell‐depleted mismatched marrow have a very poor survival of only about 10%.