Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report

摘要: A retrospective analysis was made of 122 children who had received an allogeneic haematopoietic stem cell transplantation (HSCT) for autosomal recessive osteopetrosis between 1980 and 2001. The actuarial probabilities 5 years disease free survival were 73% recipients a genotype HLA-identical HSCT (n=40), 43% phenotype or one HLA-antigen mismatch graft from related donor (n=21), 40% matched unrelated (n=20) 24% patients HLA-haplotype-mismatch (n=41). In the latter group, trend towards improvement achieved at end study period (17% before 1994, 45% after P=0.11). Causes death failure early transplant-related complications. Severe visual impairment present in 42% HSCT. Conservation vision better transplanted age 3 months. Final height to time preserved early. Most attended regular school education visually handicapped. At present, is only curative treatment should be offered as possible.