Transplantation of cord blood progenitor cells can promote bone resorption in autosomal recessive osteopetrosis

Abstract

Summary:reported to be potentially capable of correcting bone abnormalities in patients affected by juvenile osteopetrosis. 7-10The best results have been obtained in children transplanted Allogeneic BMT has been reported to be the only curative therapy for children with juvenile autosomal recessusing an HLA-identical relative, whereas those given BMT from an unrelated volunteer or particularly from an HLAive osteopetrosis. We report the case of a 14-month-old child in whom bone resorption was observed after cord partially matched family donor had a lower probability of benefiting from the procedure. 10 Moreover, as neuro-senblood transplantation (CBT). The patient was given CBT from an unrelated newborn matched for five of six sory impairment occurs early during the course of the disease, transplantation of hematopoietic progenitors should HLA antigens. At the time of transplantation, the child presented with neurological symptoms, with feeding be performed as soon as possible. The use of human umbilical cord blood (CB) hematopoproblems and visual impairment. A successful engraftment of donor hematopoiesis was demonstrated ietic progenitors from an HLA-identical sibling represents an alternative modality of transplantation, which, since first and the child experienced grade I acute GVHD. Progressive bone clearing was achieved and a bone marrow successfully applied in 1988, is being increasingly employed. 11-13 Advantages of CB transplants (CBT) from trephine demonstrated signs of osteoclast function. Despite full engraftment and bone resorption, neuroa compatible relative include ease and safety of hematopoietic stem cell collection, low risk of viral contamination, logic deterioration did not improve. This experience documents that CBT can promote the correction of juvand at least in view of the currently available evidence, reduced incidence of GVHD. The reduced risk of severe enile osteopetrosis. The shorter time needed both to identify an unrelated donor and to perform the transimmune reactions after CBT and the shorter time needed both to locate a suitable donor and to perform the transplant plant, as well as the lower incidence of GVHD make this procedure more appealing than BMT in children have recently promoted the use of CB progenitor cells from unrelated newborns. 14,15lacking an HLA-compatible relative. Keywords: cord blood transplantation; malignant osteoWe describe the case of a patient affected by juvenile AR osteopetrosis who underwent successful CBT from an petrosis; bone resorption HLA-partially matched unrelated donor.Juvenile autosomal recessive (AR) osteopetrosis is a rare Case report disorder of bone metabolism, characterized by deficient osteoclast function, leading to impaired bone resorption. 1,2The patient, a Caucasian female, was the product of an Patients with this disease have an increased bone density uncomplicated second pregnancy and there was no history resulting in the obliteration of the medullary cavity, which of parental consanguinity. Osteopetrosis was diagnosed at in turn r...

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations

“…Data collected on the 14 additional ARO patients herein described (Table 2) further support this evidence and show that HSCT is not usually performed when CNS deficit is present, due to the little benefit they would gain (Mazzolari et al, 2009). In this regard, the comparison of the clinical history of patient 15 (previously described in Locatelli et al, 1997) and patient 14 on the one hand, and of patient 25 on the other, is significant. Briefly, at diagnosis (4 months) patient 15 presented with a typical osteopetrotic bone phenotype, mild anaemia and progressive deterioration of visual and neurologic function, together with moderate cortical atrophy.…”

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

“…There are only few reported cases of successful cord blood transplantation in OP, [26][27][28][29] and variations in genotype, phenotype treatment before cord blood infusion and stem cell dose make any conclusions difficult. In addition, negative outcomes are likely to be under-reported.…”

“…Although this experience represents a single patient, it is possible that engraftment was achieved owing to prior bony remodeling following engraftment with the first transplant, as this graft slowly failed over period of more than two years. The prior transient osteoclast engraftment with partial recanalization of the marrow cavity following the first transplant 26 may have provided a greater opportunity for donor cells to localize to the marrow.…”

Hematopoietic stem cell transplantation for infantile osteopetrosis

“…by guest www.bloodjournal.org From sibling transplantation, when such a donor is not available, transplantation using grafts from an HLA-mismatched relative, an adult unrelated donor or umbilical cord blood is a reasonable approach for an otherwise lethal disease. 5,[13][14][15][16][17] Despite the relatively modest longterm survival and the fact that several of these patients are visually impaired, they appear to be engaged socially based on functional scores and the reported school attendance. Mortality rates within the first year after transplantation were high, with graft failure and early transplant-related complications accounting for most deaths.…”