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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 5/2009

01-10-2009 | Original Article

Management of neuronopathic Gaucher disease: Revised recommendations

Authors: A. Vellodi, A. Tylki-Szymanska, E. H. Davies, E. Kolodny, B. Bembi, T. Collin-Histed, E. Mengel, A. Erikson, R. Schiffmann

Published in: Journal of Inherited Metabolic Disease | Issue 5/2009

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Summary

The original guidelines drawn up for the management of the neuronopathic forms of Gaucher disease were felt to be in need of revision; in particular, the role of high-dose enzyme replacement therapy (120 IU/kg of body weight every 2 weeks) in stabilizing neurological disease. The existing published evidence was analysed; it was concluded that it did not support the role of high-dose ERT, although this might be required to treat severe visceral disease.
Literature
Abrahamov A, Elstein D, Gross--Tsur V, et al (1995) Gaucher’s disease variant characterised by progressive calcification of heart valves and unique genotype. Lancet 346: 1000–1003CrossRefPubMed
Altarescu G, Hill S, Wiggs E, Jeffries N, et al (2001) The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher’s disease. J Pediatr 138: 539–547CrossRefPubMed
Beutler E, Grabowski G A (2001) Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3635–3638
Bove KE, Daugherty C, Grabowski GA (1995) Pathological findings in Gaucher disease type 2 patients following enzyme therapy. Hum Pathol 26: 1040–1045CrossRefPubMed
Czartoryska B, Tylki--Szymanska A, Lugowska A (2000) Changes in serum chitotriosidase activity with cessation of replacement enzyme (cerebrosidase) administration in Gaucher disease. Clin Biochem 33: 147–149CrossRefPubMed
Davies EH, Erikson A, Collin--Histed T, Mengel E, Tylki--Szymanska A, Vellodi A (2007a) Outcome of type III Gaucher disease on enzyme replacement therapy: review of 55 cases. J Inherit Metab Dis 30: 935–942CrossRefPubMed
Davies EH, Surtees R, DeVile C, Schoon I, Vellodi A (2007b) A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease. J Inherit Metab Dis 30: 768–782CrossRefPubMed
Elstein D, Abrahamov A, Zimran A (1998) Ethical considerations for enzyme replacement therapy in neuronopathic Gaucher disease. Clin Genet 54: 179–184CrossRefPubMed
Erikson A (1986) Gaucher disease—Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment. Acta Paediatr Scand Suppl 326: 1–42CrossRefPubMed
Erikson A, Johansson K, Mansson JE, Svennerholm L (1993) Enzyme replacement therapy of infantile Gaucher disease. Neuropediatrics 24: 237–238CrossRefPubMed
Erikson A, Forsberg H, Nilsson M, Astrom M, Mansson JE (2006) Ten years’ experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease. Acta Paediatr 95: 312–317.CrossRefPubMed
Goker--Alpan O, Schiffmann R, Park JK, Stubblefield BK, Tayebi N, Sidransky E (2003) Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. J Pediatr 143: 273–276CrossRefPubMed
Goker-Alpan O, Wiggs EA, Eblan MJ, et al (2008) Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease. J Pediatr 153: 89–94CrossRefPubMed
Harris CM, Taylor DS, Vellodi A (1999) Ocular motor abnormalities in Gaucher disease. Neuropediatrics 30: 289–293CrossRefPubMed
Inui K, Yanagihara K, Otani K, et al (2001) A new variant neuropathic type of Gaucher’s disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules. J Pediatr 138: 137–139CrossRefPubMed
Krasnewich D, Dietrich K, Bauer L, Ginns EI, Sidransky E, Hill S (1998) Splenectomy in Gaucher disease: new management dilemmas. Blood 91: 3085–3087PubMed
Kyllerman M, Conradi N, Mansson JE, Percy AK, Svennerholm L (1990) Rapidly progressive type III Gaucher disease: deterioration following partial splenectomy. Acta Paediatr Scand. 79: 448–453CrossRefPubMed
Maas M, Hangartner T, Mariani G, et al (2008) Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease. Skeletal Radiol. 37: 185–188CrossRefPubMed
Pastores GM, Weinreb NJ, Aerts H, et al (2004) Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 41: 4–14CrossRefPubMed
Prows CA, Sanchez N, Daugherty C, Grabowski GA (1997) Gaucher disease: enzyme therapy in the acute neuronopathic variant. Am J Med Genet 71: 16–21CrossRefPubMed
Shiihara T, Oka A, Suzaki I, Ida H, Takeshita K (2000) Communicating hydrocephalus in a patient with Gaucher’s disease type 3. Pediatr Neurol 22: 234–236CrossRefPubMed
Tylki--Szymanska A, Czartoryska B (1999) Enzyme replacement therapy in type III Gaucher disease. J Inherit Metab Dis 22: 203–204CrossRefPubMed
Tylki--Szymanska A, Keddache M, Grabowski GA (2006) Characterization of neuronopathic Gaucher disease among ethnic Poles. Genet Med 8: 8–15CrossRefPubMed
Uchiyama A, Tomatsu S, Kondo N, et al (1994) New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P. Hum Mol Genet 3: 1183–1184CrossRefPubMed
Vellodi A, Bembi B, de Villemeur TB, et al; Neuronopathic Gaucher Disease Task Force (2001) Management of neuronopathic Gaucher disease: a European consensus. J Inherit Metab Dis 24: 319–327CrossRefPubMed
Metadata
Title
Management of neuronopathic Gaucher disease: Revised recommendations
Authors
A. Vellodi
A. Tylki-Szymanska
E. H. Davies
E. Kolodny
B. Bembi
T. Collin-Histed
E. Mengel
A. Erikson
R. Schiffmann
Publication date
01-10-2009
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 5/2009
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-009-1164-2

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