Hematopoietic stem cell transplantation for infantile osteopetrosis

Eapen, Mary; Davies, Stella M.; Ramsay, Norma K.C.; Orchard, Paul J.

doi:10.1038/sj.bmt.1701474

Cited by 35 publications

(28 citation statements)

References 14 publications

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“…Thus, in comparison to our previous data and the experience of others with myeloablative transplants, [17][18][19][20][21][22] it appears that transplant-related mortality is reduced with this reduced intensity regimen. In addition, our data suggest that this regimen does not compromise engraftment when a marrow or PBCS graft is used.…”

Section: Discussionmentioning

confidence: 78%

“…Our previously published data using myeloablative preparative regimens for HSCT in OP showed similar survival to the experience of others, as the proportion of patients surviving with donor engraftment was 30% (three of 10 patients). 17 Since then, two more patients underwent unrelated donor HSCT using myeloablative transplant at University of Minnesota (unpublished data); both showed donor engraftment, but both died within 100 days of transplant.…”

Section: Discussionmentioning

confidence: 99%

“…[12][13][14][15] At present, hematopoietic stem cell transplantation (HSCT) remains the only approach with the possibility of definitive and long-term benefits. 16,17 Successful allogeneic HSCT leads to engraftment of donor-derived functioning osteoclasts, resulting in bony remodeling and establishment of normal hematopoiesis. 18 Also, if the HSCT is performed before significant optic nerve compression, visual compromise may be prevented.…”

Section: Introductionmentioning

confidence: 99%

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Engraftment and survival following hematopoietic stem cell transplantation for osteopetrosis using a reduced intensity conditioning regimen

Tolar

Bonfim

Grewal

et al. 2006

Bone Marrow Transplant

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Autosomal recessive osteopetrosis (OP) is a disease characterized by osteoclast dysfunction, leading to multisystem morbidity and death of most affected children. Hematopoietic stem cell transplantation (HSCT) is the treatment of choice for OP, but this patient population is particularly prone to post-transplant complications and death after myeloablative conditioning. To determine the potential of achieving improved overall outcomes in these patients by decreasing pre-transplant mortality, we investigated engraftment and survival following a reduced intensity regimen including busulfan, fludarabine and total lymphoid irradiation. We report outcomes in 11 patients. All six patients who received a bone marrow or peripheral stem cell graft engrafted with 475% donor chimerism. In contrast, all five recipients of unrelated cord blood as a stem cell source for a first graft failed to demonstrate donor hematopoietic chimerism. The day 100 and 6-month mortality was low at 9%. One year after HSCT, six of 11 patients (55%) were surviving. Our data suggest that this regimen results in low peri-transplant mortality without compromising engraftment when a marrow or peripheral stem cell graft is used. An umbilical cord blood graft, however, should be used with caution for patients with OP when this or a similar reduced intensity regimen is used.

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Section: Discussionmentioning

confidence: 78%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Engraftment and survival following hematopoietic stem cell transplantation for osteopetrosis using a reduced intensity conditioning regimen

Tolar

Bonfim

Grewal

et al. 2006

Bone Marrow Transplant

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“…22 This procedure allows complete resolution of skeletal deformities and hepatosplenomegaly caused by extramedullary hematopoiesis. Visual impairment does not show any improvement with respect to pre-BMT conditions, which is why BMT is indicated before visual loss occurs when a matched sibling donor is available.…”

Section: Discussionmentioning

confidence: 99%

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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“…3 The single curative treatment is allogeneic hematopoietic SCT (HSCT), which causes engraftment of macrophage-derived donor source osteoclasts, resulting in remodeling of bone and restoration of normal hematopoiesis. 4 A 5-month-old male child, born to consanguineous parents, presented with failure to thrive, snoring and cough. The extended family history was positive for unexplained child mortality.…”

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confidence: 99%