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Blood. 2015 Jul 9;126(2):270-6. doi: 10.1182/blood-2015-01-625541. Epub 2015 May 26.

Hematopoietic stem cell transplantation for infantile osteopetrosis.

Author information

Division of Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN;
Department of Pediatrics, Sahlgrenska University Hospital, Gothenburg, Sweden;
Center for International Blood and Marrow Transplant Research, Department of Medicine, and Division of Biostatistics, Institute for Health and Society, Medical College of Wisconsin, Milwaukee, WI;
Center for International Blood and Marrow Transplant Research, Department of Medicine, and.
Pediatric Blood and Marrow Transplantation Program, University Medical Center Utrecht, Utrecht, Netherlands;
Blood and Marrow Transplant Program, Nationwide Children's Hospital and The Ohio State University College of Medicine, Columbus, OH;
Department of Pediatric Hematology Oncology, King Fasial Specialist Hospital & Research Center, Riyadh, Saudi Arabia;
Bone Marrow Transplant Program, Hospital de Clinicas-Universidade Federal do ParanĂ¡, Curitiba, Brazil;
Department of Pediatrics, Memorial Sloan-Kettering Cancer Center, New York, NY;
Department of Pediatrics, Children's Hospital of Orange County, Orange, CA;
Department of Research Immunology/Bone Marrow Transplant, Children's Hospital of Los Angeles, Los Angeles, CA;
Cord & Marrow Transplant Program, Sydney Children's Hospital, Sydney, Australia;
Servicio de Oncohematologia, Hospital Infantil Universitario Nino Jesus, Madrid, Spain; and.
Blood and Marrow Transplant Program, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.


We report the international experience in outcomes after related and unrelated hematopoietic transplantation for infantile osteopetrosis in 193 patients. Thirty-four percent of transplants used grafts from HLA-matched siblings, 13% from HLA-mismatched relatives, 12% from HLA-matched, and 41% from HLA-mismatched unrelated donors. The median age at transplantation was 12 months. Busulfan and cyclophosphamide was the most common conditioning regimen. Long-term survival was higher after HLA-matched sibling compared to alternative donor transplantation. There were no differences in survival after HLA-mismatched related, HLA-matched unrelated, or mismatched unrelated donor transplantation. The 5- and 10-year probabilities of survival were 62% and 62% after HLA-matched sibling and 42% and 39% after alternative donor transplantation (P = .01 and P = .002, respectively). Graft failure was the most common cause of death, accounting for 50% of deaths after HLA-matched sibling and 43% of deaths after alternative donor transplantation. The day-28 incidence of neutrophil recovery was 66% after HLA-matched sibling and 61% after alternative donor transplantation (P = .49). The median age of surviving patients is 7 years. Of evaluable surviving patients, 70% are visually impaired; 10% have impaired hearing and gross motor delay. Nevertheless, 65% reported performance scores of 90 or 100, and in 17%, a score of 80 at last contact. Most survivors >5 years are attending mainstream or specialized schools. Rates of veno-occlusive disease and interstitial pneumonitis were high at 20%. Though allogeneic transplantation results in long-term survival with acceptable social function, strategies to lower graft failure and hepatic and pulmonary toxicity are urgently needed.

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