Beneficial Effect of Pre-Transplant Splenectomy on Displacement Bone Marrow Transplantation for Gaucher's Syndrome

Hobbs, J. R.; Shaw, Priyanka; Jones, K. Hugh; Lindsay, Iain; Hancock, Michael L.

doi:10.1016/s0140-6736(87)91673-4

Cited by 88 publications

(34 citation statements)

References 11 publications

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“…The six less severely involved patients reported by Gaucher cells surrounding brain vessels. The findings pro-Hobbs et al (8) apparently improved and are doing well several vide the time course and rationale for studies directed to yean after engraftment. The cases described by Erickson et a/.…”

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confidence: 80%

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Allogenic Bone Marrow Transplantation in Severe Gaucher Disease

et al. 1992

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ABSTRACT. Gaucher disease is the most prevalent lysoGaucher disease is the most prevalent lysosomal storage disease soma1 storage disease. This autosomal recessive disease is (I) and the most frequent genetic disease in the Ashkenazi Jewish caused by the defective activity of the enzyme acid 8-population (2). This autosomal recessive disorder of glycosphinglucosidase and the resultant accumulation of glucosylcer-golipid metabolism results from numerous point mutations at amide primarily within cells of the reticuloendothelial SyS-the locus-encoding acid (3-glucosidase (glucocerebrosidase) (for tern. Because the primary manifestations of Gaucher review, see Ref. 3). The majority of these are missense mutations, disease are due to involvement of mono~yte/macro~hage-which lead to the defective activity of this enzyme (3-5). The derived this disease is be an resultant accumulation of the substrate, glucosylceramide, within candidate for curative intervention via bone marrow trans-m o n o c y t e~m a c r o p~a g e -~e~v e~ cells (~~~ cells) leads to the ~lantation (BMT). A is panic female with subacute neu-visceral manifestations including hepatosplenomegaly, hyperronopathic Gaucher disease and progressing splenism, and skeletal disease (6). Three variants of the disease manifestations underwent BMT at 23 m0 of age using have been delineated based on the absence (type 1, nonneuronher brother as the donor' Cytoge-opathic) or presence (neuronopathic) and severity (type 2, acute; netic analyses demonstrated complete, stable engraftment by 1 mo post-BMT. During the subsequent 24 mo, clinical, type 3 subacute) of primary CNS involvement (6). Because the biochemical, enzymatic, and histologic studies demon-major visceral manifestations of this disease result from the strated nearly complete correction in the viscera. H~~ accumulation of bone marrow-derived tissue-bound macroneuropathic manifestations did not progress. Complete re-phages, Gaucher disease type 1 has been a prime candidate for constitution of enzymatic activity in peripheral blood leu-curative intervention by BMT. In addition, demonstration of the kocytes was achieved by 1 mo. Cytogenetic analyses dem-clinical, biochemical, and histopathologic efficacy of BMT would onstrated complete engraftment by d 79 and nearly corn-provide the basis for ongoing efforts directed toward molecular plete loss of bone marrow Gaucher cells was observed by therapy for this disease.

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confidence: 80%

“…8 mo. Plasma glucosylceramide levels normalized by [8][9][10][11][12] Previously, Rappeport and Ginns (71, Hobbs (9) demonstrated engraftment of bone marrow zyme levels, and histology were found by 12-24 mo post-transplanted from histocompatible siblings into affected patients. BMT.…”

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confidence: 95%

Allogenic Bone Marrow Transplantation in Severe Gaucher Disease

et al. 1992

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“…[74][75][76] Gaucher disease types I, II, III HCT is effective in alleviating most disease manifestations of Gaucher including arresting further neuropsychological deterioration in type III (Norbottnian) disease [77][78][79][80][81] and greatly reducing skeletal problems in severe early onset type I disease. 34,[82][83][84] HCT is not currently regarded as first-line treatment because of the low morbidity of ERT. 85,86 This approach may change in type III disease as ERT results are closely scrutinized and if HCT techniques improve.…”

Section: Fucosidosismentioning

confidence: 99%

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

Peters

Steward

2003

Bone Marrow Transplant

283

178

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Summary:For the past two decades, hematopoietic cell transplantation (HCT) has been used as effective therapy for selected inherited metabolic diseases (IMD) including Hurler (MPS IH) and Maroteaux-Lamy (MPS VI) syndromes, childhood-onset cerebral X-linked adrenoleukodystrophy (X-ALD), globoid-cell leukodystrophy (GLD), metachromatic leukodystrophy (MLD), a-mannosidosis, osteopetrosis, and others. Careful pre-HCT evaluation is critical and coordinated, multidisciplinary follow-up is essential in this field of transplantation. The primary goals of HCT for these disorders have been to promote long-term survival with donor-derived engraftment and to optimize the quality of life. Guidelines for HCT and monitoring are provided; a brief overview of long-term results is also presented.

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“…Since the macrophages that then populate the body carry the correct genetic information, signs of the disease should disappear. Allogeneic marrow transplantation has been performed a number of times in patients with type 1 Gaucher disease with marked amelioration of the disorder and with disappearance ofGaucher cells from the marrow (93,94). The response of patients with neuronopathic disease has been less definitive (95,96).…”

Section: Genotype-phenotype Correlationsmentioning

confidence: 99%

Gaucher disease as a paradigm of current issues regarding single gene mutations of humans.

Beutler

1993

Proc. Natl. Acad. Sci. U.S.A.

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Gaucher disease is a glycolytic storage disease caused by a deficiency in activity of the catabolic enzyme glucocerebrosidase. Over 35 different mutations have been documented, including missense and nonsense point mutations, splicing mutations, deletions and insertions, a fusion gene, and examples of gene conversion. Gaucher disease is most common in the Ashkenazi Jewish population, in which just five of the mutations in this population account for 98% of the disease-producing alleles. Each of these mutations is found in the context of a single haplotype, a finding consistent with a single origin of each mutation. Although it is clear that these mutations provide a selective advantage in the Jewish population and thus constitute a balanced polymorphism, the nature of the advantage is unknown. Gaucher disease can be treated symptomatically, by administration of the missing enzyme, by allogeneic bone marrow transplantation, and potentially by gene transfer into hematopoietic stem cells. Increasing understanding of this disease has, as in other genetic disorders, created a host of social and ethical dilemmas regarding matters such as the cost of treatment for rare diseases and the advantages and disadvantages of population-targeted genetic screening.

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Beneficial Effect of Pre-Transplant Splenectomy on Displacement Bone Marrow Transplantation for Gaucher's Syndrome

Cited by 88 publications

References 11 publications

Allogenic Bone Marrow Transplantation in Severe Gaucher Disease

Allogenic Bone Marrow Transplantation in Severe Gaucher Disease

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

Gaucher disease as a paradigm of current issues regarding single gene mutations of humans.

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