Bone marrow transplantation for autosomal recessive osteopetrosis A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group☆,☆☆,★
Section snippets
METHODS
Between 1976 and 1993, 69 patients received a total of 83 BMTs for juvenile osteopetrosis in 17 cooperating centers in Europe, Costa Rica, and Saudi Arabia. Data on all BMTs done during this period were collected from members of the Working Party on Congenital Diseases of the European Group for BMT. A retrospective analysis was made of data available up to January 1994, giving a minimum follow-up period of 2 months, and a maximum of ten years. Data for eight patients were reported previously.7,
Engraftment
In all evaluable recipients of an HLA-identical bone marrow graft (n = 19), donor-derived hematopoiesis was documented after the first BMT (Table I), except for one child who received a T-cell-depleted graft. After retransplantation with unmodified bone marrow, prompt engraftment was obtained. Engraftment was sustained in all cases except for one patient with carbonic anhydrase deficiency, who had only transient engraftment after BMT without preceding myeloablation.7 The BMT was successful in
DISCUSSION
Autosomal recessive osteopetrosis can be very variable in its clinical expression.5 The basic defect in juvenile osteopetrosis is unknown except for a small subgroup with carbonic anhydrase deficiency.1, 2 In osteopetrotic (op/op) mutant mice, a defect in the gene encoding for macrophage colony-stimulating factor has been reported24; the disease cannot be corrected by BMT but resolves after treatment with macrophage colony-stimulating factor.25 This defect has not yet been demonstrated in human
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2023, BoneCitation Excerpt :Regarding the stem cell donor, prior to 2003, only HSCT from HLA-genoidentical donors had an acceptable outcome. The probability of 5-year survival, with osteoclast function was 79 % [14] and 73 % [10] in genoidentical HSCT, whereas HSCT from a haploidentical related or phenoidentical donor had a poor outcome with a probability of 5-year survival ranging from 13 % to 38 % [14] and from 24 % to 43 % [10], respectively. The main problems in haploidentical HSCT were graft failure and HSCT-related complications such as sepsis, bleeding, and interstitial pneumonia.
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2020, BoneCitation Excerpt :On the other hand, some authors have demonstrated that the correlation between visual impairment and optic canal size is unreliable [34,35]. Moreover, the visual function recovery after HSCT is rare [36], even if it is performed early [11]. In our study, the pre-transplant evaluation of the optical canals of ARO patient showed normal bilateral diameters according to age, in spite of a severe visual impairment.
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From the Department of Pediatrics and Medical Statistics, University Hospital, Leiden, The Netherlands; Department of Pediatrics, East Hospital, Göteborg, Sweden; University Children's Hospital, Ulm, Germany; Hospital for Sick Children, Institute of Child Health, and Westminster Children's Hospital, London, and Department of Pediatrics, General Hospital, Newcastle, United Kingdom; Department of Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; National Children's Hospital, San José, Costa Rica; Our Lady's Hospital for Sick Children, Dublin, Ireland; Department of Pediatrics, University Hospital, Brescia, Italy; Children's Hospital, Nancy, and the Department of Immunology and Hematology, Hôpital Necker Enfants Malades, Paris, France.
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Reprint requests: Egbert J.A. Gerritsen, MD, Department of Paediatrics, Leiden University Hospital, PO Box 9600, 2300 RC Leiden, The Netherlands.
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0022-3476/94/$3.00 + 0 9/20/59280