메뉴 건너뛰기




Volumn 24, Issue 5, 2010, Pages 619-628

Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly

Author keywords

Acroparesthesia; Angiokeratoma; Cholestasis; Cholesterol ester storage disease; Cirrhosis; Fabry disease; Gaucher disease; Hepatocellular carcinoma; Niemann Pick disease; Renal failure; Stroke

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; CHITOTRIOSIDASE; COLESTYRAMINE; ENZYME; EZETIMIBE; IMIGLUCERASE; MEVINOLIN; MIGLUSTAT;

EID: 77958109525     PISSN: 15216918     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bpg.2010.09.001     Document Type: Article
Times cited : (35)

References (44)
  • 1
    • 0028220472 scopus 로고
    • Marked elevation of plasma chitotriosidase activity: A novel hallmark of Gaucher disease
    • C.M. Hollak, S. van Weely, M.H.J. van Oers, and J.M.F.G. Aerts Marked elevation of plasma chitotriosidase activity: a novel hallmark of Gaucher disease J Clin Invest 93 1994 1288 1292
    • (1994) J Clin Invest , vol.93 , pp. 1288-1292
    • Hollak, C.M.1    Van Weely, S.2    Van Oers, M.H.J.3    Aerts, J.M.F.G.4
  • 2
    • 0029565165 scopus 로고
    • Elevated plasma chitotriosidase activity in various lysosomal storage disorders
    • Y. Guo, W. He, A.M. Boer, R.A. Wevers, Ad Bruijn, and J.E.M. Groener Elevated plasma chitotriosidase activity in various lysosomal storage disorders Inherit Metab Dis 18 1995 717 722
    • (1995) Inherit Metab Dis , vol.18 , pp. 717-722
    • Guo, Y.1    He, W.2    Boer, A.M.3    Wevers, R.A.4    Bruijn, A.5    Groener, J.E.M.6
  • 3
    • 0344980294 scopus 로고    scopus 로고
    • Hepatosplenomegalic lipidosis: What unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation
    • S. vom Dahl, K. Harzer, C. Niederau, A. Rolfs, B. Albrecht, and C. Niederau Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation J Hepatol 31 1999 741 746
    • (1999) J Hepatol , vol.31 , pp. 741-746
    • Vom Dahl, S.1    Harzer, K.2    Niederau, C.3    Rolfs, A.4    Albrecht, B.5    Niederau, C.6
  • 4
    • 33748714980 scopus 로고    scopus 로고
    • Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C
    • M. Ries, E. Schaefer, T. Luhrs, L. Mani, J. Kuhn, and M.T. Vanier Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C J Inherit Metab Dis 29 2006 647 652
    • (2006) J Inherit Metab Dis , vol.29 , pp. 647-652
    • Ries, M.1    Schaefer, E.2    Luhrs, T.3    Mani, L.4    Kuhn, J.5    Vanier, M.T.6
  • 5
    • 2942687937 scopus 로고    scopus 로고
    • The cell biology of lysosomal storage disorders
    • A.H. Futerman, and G. van Meer The cell biology of lysosomal storage disorders Nat Rev Mol Cell Biol 5 2004 554 565
    • (2004) Nat Rev Mol Cell Biol , vol.5 , pp. 554-565
    • Futerman, A.H.1    Van Meer, G.2
  • 6
    • 0013927537 scopus 로고
    • Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease
    • R.O. Brady, J.N. Kanfer, R.M. Bradley, and D. Shapiro Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease J Clin Invest 45 1966 1112 1115
    • (1966) J Clin Invest , vol.45 , pp. 1112-1115
    • Brady, R.O.1    Kanfer, J.N.2    Bradley, R.M.3    Shapiro, D.4
  • 7
    • 17644422131 scopus 로고    scopus 로고
    • Gaucher disease: Pathological mechanisms and modern management
    • M. Jmoudiak, and A.H. Futerman Gaucher disease: pathological mechanisms and modern management Br J Haematol 129 2005 178 188
    • (2005) Br J Haematol , vol.129 , pp. 178-188
    • Jmoudiak, M.1    Futerman, A.H.2
  • 9
    • 16844367872 scopus 로고    scopus 로고
    • Clinical evaluation of biomarkers in Gaucher disease
    • P.B. Deegan, and T.M. Cox Clinical evaluation of biomarkers in Gaucher disease Acta Paediatr Suppl 94 2005 47 50 discussion 37-8
    • (2005) Acta Paediatr Suppl , vol.94 , pp. 47-50
    • Deegan, P.B.1    Cox, T.M.2
  • 10
    • 33745728033 scopus 로고    scopus 로고
    • Evidence-based recommendations for the treatment and monitoring of bone disease in Gaucher patients
    • S. vom Dahl, L. Poll, M. Di Rocco, G. Ciana, C. Denes, and G. Mariani Evidence-based recommendations for the treatment and monitoring of bone disease in Gaucher patients Curr Med Res Opin 22 2006 1045 1064
    • (2006) Curr Med Res Opin , vol.22 , pp. 1045-1064
    • Vom Dahl, S.1    Poll, L.2    Di Rocco, M.3    Ciana, G.4    Denes, C.5    Mariani, G.6
  • 13
    • 33745722913 scopus 로고    scopus 로고
    • Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: A 2-center retrospective analysis
    • M. de Fost, C.E. Hollak, J.E. Groener, J.M. Aerts, M. Maas, and L.W. Poll Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis Blood 108 2006 830 835
    • (2006) Blood , vol.108 , pp. 830-835
    • De Fost, M.1    Hollak, C.E.2    Groener, J.E.3    Aerts, J.M.4    Maas, M.5    Poll, L.W.6
  • 14
    • 62149099925 scopus 로고    scopus 로고
    • Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1
    • G. Grabowski, K. Kacena, C.E. Hollak, L. Zhang, J. Yee, and P.K. Mistry Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1 Genet Med 11 2009 92 100
    • (2009) Genet Med , vol.11 , pp. 92-100
    • Grabowski, G.1    Kacena, K.2    Hollak, C.E.3    Zhang, L.4    Yee, J.5    Mistry, P.K.6
  • 15
    • 72949102806 scopus 로고    scopus 로고
    • Enzyme therapy for the treatment of type 1 Gaucher disease: Clinical outcomes and dose - Response relationships
    • C.E. Hollak, M. de Fost, L. van Dussen, S. Vom Dahl, and J.M. Aerts Enzyme therapy for the treatment of type 1 Gaucher disease: clinical outcomes and dose - response relationships Expert Opin Pharmacother 10 2009 2641 2652
    • (2009) Expert Opin Pharmacother , vol.10 , pp. 2641-2652
    • Hollak, C.E.1    De Fost, M.2    Van Dussen, L.3    Vom Dahl, S.4    Aerts, J.M.5
  • 17
    • 77958104657 scopus 로고    scopus 로고
    • Phase I/II and extension study of velaglucerase alfa (Gene-ActivatedTM human glucocerebrosidase) replacement therapy in adults with type 1 Gaucher disease: 48-month experience
    • A. Zimran, G. Altarescu, M. Phillips, D. Attias, M. Jmoudiak, and M. Deeb Phase I/II and extension study of velaglucerase alfa (Gene-ActivatedTM human glucocerebrosidase) replacement therapy in adults with type 1 Gaucher disease: 48-month experience Blood 2010 [Epub ahead of print]
    • (2010) Blood
    • Zimran, A.1    Altarescu, G.2    Phillips, M.3    Attias, D.4    Jmoudiak, M.5    Deeb, M.6
  • 18
    • 0034728914 scopus 로고    scopus 로고
    • Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
    • T. Cox, R. Lachmann, C. Hollak, J. Aerts, S. van Weely, and M. Hrebicek Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis Lancet 355 2000 1481 1485
    • (2000) Lancet , vol.355 , pp. 1481-1485
    • Cox, T.1    Lachmann, R.2    Hollak, C.3    Aerts, J.4    Van Weely, S.5    Hrebicek, M.6
  • 19
    • 7244254360 scopus 로고    scopus 로고
    • Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type i Gaucher disease
    • D. Elstein, C. Hollak, J.M. Aerts, S. van Weely, M. Maas, and T.M. Cox Sustained therapeutic effects of oral miglustat (Zavesca, N- butyldeoxynojirimycin, OGT 918) in type I Gaucher disease J Inherit Metab Dis 27 2004 757 766
    • (2004) J Inherit Metab Dis , vol.27 , pp. 757-766
    • Elstein, D.1    Hollak, C.2    Aerts, J.M.3    Van Weely, S.4    Maas, M.5    Cox, T.M.6
  • 20
    • 33744489849 scopus 로고    scopus 로고
    • Short-term effect of miglustat in every day clinical use in treatment-naive or previously treated patients with type 1 Gaucher's disease
    • P. Giraldo, P. Latre, P. Alfonso, A. Acedo, D. Alonso, and A. Barez Short-term effect of miglustat in every day clinical use in treatment-naive or previously treated patients with type 1 Gaucher's disease Haematologica 91 2006 703 706
    • (2006) Haematologica , vol.91 , pp. 703-706
    • Giraldo, P.1    Latre, P.2    Alfonso, P.3    Acedo, A.4    Alonso, D.5    Barez, A.6
  • 21
    • 77956064508 scopus 로고    scopus 로고
    • Neuronopathic Gaucher disease: Demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry
    • A. Tylki-Szymanska, A. Vellodi, A. El-Beshlawy, J.A. Cole, and E. Kolodny Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry J Inherit Metab Dis 33 2010 339 346
    • (2010) J Inherit Metab Dis , vol.33 , pp. 339-346
    • Tylki-Szymanska, A.1    Vellodi, A.2    El-Beshlawy, A.3    Cole, J.A.4    Kolodny, E.5
  • 22
    • 33947376087 scopus 로고    scopus 로고
    • Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase
    • R. Steet, S. Chung, W.S. Lee, C.W. Pine, H. Do, and S. Kornfeld Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase Biochem Pharmacol 73 2007 1376 1383
    • (2007) Biochem Pharmacol , vol.73 , pp. 1376-1383
    • Steet, R.1    Chung, S.2    Lee, W.S.3    Pine, C.W.4    Do, H.5    Kornfeld, S.6
  • 23
    • 0015363979 scopus 로고
    • Enzyme deficiency in cholesteryl ester storage disease
    • H.R. Sloan, and D.S. Frederickson Enzyme deficiency in cholesteryl ester storage disease J Clin Invest 51 1972 1923 1926
    • (1972) J Clin Invest , vol.51 , pp. 1923-1926
    • Sloan, H.R.1    Frederickson, D.S.2
  • 24
    • 0016836751 scopus 로고
    • Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein. Observations in cultured fibroblasts from a patient with cholesteryl ester storage disease
    • J. Goldstein, S.E. Dana, J.R. Faust, A.L. Baudet, and M.S. Brown Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein. Observations in cultured fibroblasts from a patient with cholesteryl ester storage disease J Biol Chem 250 1975 8487 8495
    • (1975) J Biol Chem , vol.250 , pp. 8487-8495
    • Goldstein, J.1    Dana, S.E.2    Faust, J.R.3    Baudet, A.L.4    Brown, M.S.5
  • 25
    • 0021736152 scopus 로고
    • Cholesteryl ester storage disease and Wolman disease: Phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency
    • J.M. Hoeg, S.J. Demosky Jr., O.H. Pescovitz, and H.B. Brewer Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency Am J Hum Genet 36 1984 1190 1203
    • (1984) Am J Hum Genet , vol.36 , pp. 1190-1203
    • Hoeg, J.M.1    Demosky, Jr.S.J.2    Pescovitz, O.H.3    Brewer, H.B.4
  • 26
    • 0028797149 scopus 로고
    • A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease
    • D. Ameis, G. Brockmann, R. Knoblich, M. Merkel, R.E. Ostlund, and J.W. Wang A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease J Lipid Res 36 1995 241 250
    • (1995) J Lipid Res , vol.36 , pp. 241-250
    • Ameis, D.1    Brockmann, G.2    Knoblich, R.3    Merkel, M.4    Ostlund, R.E.5    Wang, J.W.6
  • 28
    • 0036377803 scopus 로고    scopus 로고
    • Lysosomal acid lipase deficiency: Correction of lipid storage by adenovirus-mediated gene transfer in mice
    • H. Du, M. Heur, D.P. Witte, D. Ameis, and G.A. Grabowski Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice Hum Gene Ther 13 2002 1361 1372
    • (2002) Hum Gene Ther , vol.13 , pp. 1361-1372
    • Du, H.1    Heur, M.2    Witte, D.P.3    Ameis, D.4    Grabowski, G.A.5
  • 31
    • 33748984649 scopus 로고    scopus 로고
    • Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease
    • M.P. Wasserstein, A. Aron, S.E. Brodie, C. Simonaro, R.J. Desnick, and M.M. McGovern Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease J Pediatr 149 2006 554 559
    • (2006) J Pediatr , vol.149 , pp. 554-559
    • Wasserstein, M.P.1    Aron, A.2    Brodie, S.E.3    Simonaro, C.4    Desnick, R.J.5    McGovern, M.M.6
  • 32
    • 0036914191 scopus 로고    scopus 로고
    • The demographics and distribution of type B Niemann-Pick disease: Novel mutations lead to new genotype/phenotype correlations
    • C.M. Simonaro, R.J. Desnick, M.M. McGovern, M.P. Wasserstein, and E.H. Schuchman The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations Am J Hum Genet 71 2002 1413 1419
    • (2002) Am J Hum Genet , vol.71 , pp. 1413-1419
    • Simonaro, C.M.1    Desnick, R.J.2    McGovern, M.M.3    Wasserstein, M.P.4    Schuchman, E.H.5
  • 33
    • 0347286954 scopus 로고    scopus 로고
    • Ex vivo gene therapy using bone marrow-derived cells: Combined effects of intracerebral and intravenous transplantation in a mouse model of Niemann-Pick disease
    • H.K. Jin, and E.H. Schuchman Ex vivo gene therapy using bone marrow-derived cells: combined effects of intracerebral and intravenous transplantation in a mouse model of Niemann-Pick disease Mol Ther 8 2003 876 885
    • (2003) Mol Ther , vol.8 , pp. 876-885
    • Jin, H.K.1    Schuchman, E.H.2
  • 34
    • 0033810516 scopus 로고    scopus 로고
    • Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology
    • S.R. Miranda, X. He, C.M. Simonaro, S. Gatt, A. Dagan, and R.J. Desnick Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology Faseb J 14 2000 1988 1995
    • (2000) Faseb J , vol.14 , pp. 1988-1995
    • Miranda, S.R.1    He, X.2    Simonaro, C.M.3    Gatt, S.4    Dagan, A.5    Desnick, R.J.6
  • 35
    • 0033758952 scopus 로고    scopus 로고
    • Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease
    • S.R. Miranda, S. Erlich, V.L. Friedrich Jr., S. Gatt, and E.H. Schuchman Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease Gene Ther 7 2000 1768 1776
    • (2000) Gene Ther , vol.7 , pp. 1768-1776
    • Miranda, S.R.1    Erlich, S.2    Friedrich, Jr.V.L.3    Gatt, S.4    Schuchman, E.H.5
  • 36
    • 62949163223 scopus 로고    scopus 로고
    • Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins
    • T. Dierks, L. Schlotawa, M.A. Frese, K. Radhakrishnan, K. von Figura, and B. Schmidt Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins Biochim Biophys Acta 1793 2009 710 725
    • (2009) Biochim Biophys Acta , vol.1793 , pp. 710-725
    • Dierks, T.1    Schlotawa, L.2    Frese, M.A.3    Radhakrishnan, K.4    Von Figura, K.5    Schmidt, B.6
  • 37
    • 34547753513 scopus 로고    scopus 로고
    • Miglustat for treatment of Niemann-Pick C disease: A randomised controlled study
    • M.C. Patterson, D. Vecchio, H. Prady, L. Abel, and J.E. Wraith Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study Lancet Neurol 6 2007 765 772
    • (2007) Lancet Neurol , vol.6 , pp. 765-772
    • Patterson, M.C.1    Vecchio, D.2    Prady, H.3    Abel, L.4    Wraith, J.E.5
  • 38
    • 0035811624 scopus 로고    scopus 로고
    • Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease
    • C.M. Eng, N. Guffon, W.R. Wilcox, D.P. Germain, P. Lee, and S. Waldek Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease N Engl J Med 345 2001 9 16
    • (2001) N Engl J Med , vol.345 , pp. 9-16
    • Eng, C.M.1    Guffon, N.2    Wilcox, W.R.3    Germain, D.P.4    Lee, P.5    Waldek, S.6
  • 39
    • 33645223499 scopus 로고    scopus 로고
    • Fabry disease: Identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations
    • J. Shabbeer, M. Yasuda, S.D. Benson, and R.J. Desnick Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations Hum Genomics 2 2006 297 309
    • (2006) Hum Genomics , vol.2 , pp. 297-309
    • Shabbeer, J.1    Yasuda, M.2    Benson, S.D.3    Desnick, R.J.4
  • 42
    • 34248190164 scopus 로고    scopus 로고
    • Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
    • D.P. Germain, S. Waldek, M. Banikazemi, D.A. Bushinsky, J. Charrow, and R.J. Desnick Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease J Am Soc Nephrol 18 2007 1547 1557
    • (2007) J Am Soc Nephrol , vol.18 , pp. 1547-1557
    • Germain, D.P.1    Waldek, S.2    Banikazemi, M.3    Bushinsky, D.A.4    Charrow, J.5    Desnick, R.J.6
  • 44
    • 77954538917 scopus 로고    scopus 로고
    • A Phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1
    • E. Lukina, N. Watman, E.A. Arreguin, M. Banikazemi, M. Dragosky, and M. Iastrebner A Phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1 Blood 2010 [Epub ahead of print]
    • (2010) Blood
    • Lukina, E.1    Watman, N.2    Arreguin, E.A.3    Banikazemi, M.4    Dragosky, M.5    Iastrebner, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.