Marrow transplantation for juvenile osteopetrosis

Sorell, Michael; Kapoor, Neena; Kirkpatrick, Dahlia; Rosen, John F.; Chaganti, R. S. K.; López, Carlos; Dupont, Bo; Pollack, Marilyn S.; Terrin, Bruce N.; Harris, Michael B.; Vine, Debra; Rose, Judith S.; Goossen, Chloe; Lane, Joseph M.; Good, Robert A.; O’Reilly, Richard J.

doi:10.1016/0002-9343(81)90839-1

Cited by 93 publications

(18 citation statements)

References 20 publications

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“…5 Since 1977, allogeneic haematopoietic stem cell transplantation (HSCT) had been successfully applied in single cases and small groups of AR-OP patients. [6][7][8][9] In 1994, our group reported the results in 69 patients, showing a favourable outcome of HSCT with a (genotype) HLA-identical donor. 10 Treatments with approaches other than HSCT such as corticosteroids, high doses of calcitriol (vitamin D 3 ) and interferon-g, have been disappointing.…”

mentioning

confidence: 98%

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

Driessen

Gerritsen

Fischer

et al. 2003

Bone Marrow Transplant

163

130

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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 ¼ 40), 43% for recipients of a phenotype HLA-identical or one HLAantigen mismatch graft from a related donor (n ¼ 21), 40% for recipients of a graft from a matched unrelated donor (n ¼ 20) and 24% for patients who received a graft from an HLA-haplotype-mismatch related donor (n ¼ 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 ¼ 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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confidence: 98%

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

Driessen

Gerritsen

Fischer

et al. 2003

Bone Marrow Transplant

163

130

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“…7 Very few patients with mild AR osteopetrosis successfully grafted at an older age have been described. 8,9 Here, we report good outcomes of two cases with a mild variant of AR osteopetrosis, with a follow-up of 5 and 6 years, respectively, after the BMTs they underwent at 5 and 12 years of age. Informed consent was obtained by parents, and the protocol was approved by the local Medical Ethics Committee.…”

mentioning

confidence: 80%

Long-term follow-up of two children with a variant of mild autosomal recessive osteopetrosis undergoing bone marrow transplantation

Dini

Floris

Garaventa

et al. 2000

Bone Marrow Transplant

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Summary:Malignant autosomal recessive (AR) osteopetrosis represents an absolute indication for bone marrow transplantation (BMT). Over the last 15 years, almost 100 BMTs for osteopetrosis have been reported. The median age at transplant of most patients is 4 months. Very few cases of mild AR osteopetrosis have been described. Here, we report the good outcome of two cases of mild AR osteopetrosis with a follow-up of 5 and 6 years, respectively, after an HLA-identical sibling transplant undergone at 5 and 12 years of age, respectively. At the time of BMT, severe visual impairment was present in both children. Bone biopsy demonstrated hypermineralization with virtual obliteration of the medullary spaces, rare microfoci of hematopoiesis and marked deficiency in osteoclastic activity. Successful engraftment was complicated by hypercalcemia, controlled by a combination of bisphosphonate, phosphate infusions, vigorous hydration and calcitonin. Following BMT, radiological and histological findings showed extensive bone resorption with marked augmentation of the osteoclasts in normalized marrow. No improvement was observed in visual acuity, despite complete remodeling of skeletal abnormalities. We conclude that allogeneic BMT is the only chance of curing mild AR osteopetrosis. Bone Marrow Transplantation (2000) 26, 219-224.

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“…25 Following BMT, normal osteoclasts differentiate from donor-derived marrow stem cells and can function normally in recipient patients. 26,27 All patients may not respond to BMT. However, the procedure should be considered because the malignant type of the disease is lethal and there is no effective alternative treatment.…”

Section: Managementmentioning

confidence: 99%

Autosomal Recessive Osteopetrosis

Mahdi¹

1994

Annals of Saudi Medicine

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Marrow transplantation for juvenile osteopetrosis

Cited by 93 publications

References 20 publications

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

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

Long-term follow-up of two children with a variant of mild autosomal recessive osteopetrosis undergoing bone marrow transplantation

Autosomal Recessive Osteopetrosis

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