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Osteopetrosis

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

Bone Marrow Transplantation volume 32, pages 657–663 (2003)Cite this article

Summary:

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

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Acknowledgements

The following centres contributed to this study: Hacettepe Children's Hospital, Ankara, Turkey (Dr D Uckan); Department of Pediatrics, University Hospital Brescia, Italy (Dr F Porta); Royal Hospital for Children, Bristol, U K (Dr C Steward); Hôspital Universitaire des Enfants, Brussels, Belgium (Dr A Ferster); Our Lady's Hospital for Sick Children, Dublin, Ireland (Dr A O’Meara); Department of Hematology, San Martino Hospital, Genova, Italy (Dr A Bacigalupo); Department of Pediatric Hemato-oncology, University Hospital Gent, Belgium (Dr Y Benoit); Royal Hospital for Sick Children, Glasgow, Scotland (Dr B Gibson); Queen Silvia Children's Hospital, Göteborg, Sweden (Dr A Fasth); Department of Pediatrics, University Hospital Leiden, The Netherlands (Dr J Vossen); Hospital for Sick Children, London, U K (Drs P Veys and A Vellodi); Hôpital d’Enfants, Nancy, France (Dr P Bordigoni); Department of Pediatrics, General Hospital, Newcastle, U K (Dr A Cant); Department of Immunology and Hematology, Hôpital Necker Enfants Malades, Paris, France (Drs A Fischer and C Griscelli); Hôspital St Louis, Paris, France (Dr E Gluckman); Hôpital Debré, Paris, France (Dr E Vilmer); Clinica Pediatrica, Pavia, Italy (Dr F Locatelli); Department of Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia (Drs P Ernst and A Padmos); Department of Medicine, National Children's Hospital, San Jóse, Costa Rica (Dr O Porras); University Children's Hospital, Ulm, Germany (Dr W Friedrich).

Author information

Author notes

  1. G J A Driessen

    Present address: Erasmus Medical Center, Sophia Children's Hospital, Rotterdam, The Netherlands

Authors and Affiliations

  1. Department of Pediatrics, Medical Center Rijnmond-Zuid, Rotterdam, The Netherlands

    G J A Driessen & E J A Gerritsen

  2. Hôpital Necker Enfants Malades, Paris, France

    A Fischer

  3. Department of Pediatrics, Queen Silvia's Children's Hospital, Göteborg, Sweden

    A Fasth

  4. Department of Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands

    W C J Hop

  5. Great Ormond Street Hospital, London, UK

    P Veys

  6. Department of Pediatrics, University Hospital, Brescia, Italy

    F Porta

  7. Department of Pediatrics, General Hospital, Newcastle, UK

    A Cant

  8. Royal Hospital for Children, Bristol, UK

    C G Steward

  9. Department of Pediatrics, University Hospital, Leiden, The Netherlands

    J M Vossen

  10. Hacettepe Children's Hospital, Ankara, Turkey

    D Uckan

  11. University Children's Hospital, Ulm, Germany

    W Friedrich

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  1. G J A Driessen
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  2. E J A Gerritsen
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Correspondence to E J A Gerritsen.

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Driessen, G., Gerritsen, E., Fischer, A. et al. Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report. Bone Marrow Transplant 32, 657–663 (2003). https://doi.org/10.1038/sj.bmt.1704194

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  • DOI: https://doi.org/10.1038/sj.bmt.1704194

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