Gaucher disease

Current Opinion in Hematology

Volumn 4, Issue 1, 1997, Pages 19-23

  Beutler, Ernest ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALGLUCERASE; GLUCOSYLCERAMIDASE; IMIGLUCERASE;

AUTOSOMAL RECESSIVE DISORDER; BONE MARROW TRANSPLANTATION; ENZYME DEFICIENCY; ENZYME THERAPY; GAUCHER DISEASE; GENE FREQUENCY; GENE MUTATION; GENE THERAPY; HUMAN; LUNG DISEASE; PRIORITY JOURNAL; REVIEW; STORAGE DISEASE; TOTAL LUNG CAPACITY;

EID: 0031038563     PISSN: 10656251     EISSN: None     Source Type: Journal    
DOI: 10.1097/00062752-199704010-00004     Document Type: Review

References (85)

1. Petrides PE: Morbus Gaucher. Diagnose und therapie. Dtsch Med Wochenschr 1995, 120:1177-1182.
2. Whittington R, Goa KL: Alglucerase. A pharmacoeconomic appraisal of its use In the treatment of Gaucher's disease. PharmacoEconomics 1995, 7:63-90.
3. Beutler E, Grabowski G, Scriver CR, Beaudet AL, Sly WS, Valle D, eds: The Metabolic Basis of Inherited Disease, edn 7. New York: McGraw-Hill Publishing Company; 1995:2641-2670. A comprehensive review of Gaucher disease.
4. Beutler E: Gaucher disease. Adv Genet 1995, 32:17-49.
5. Balicki D, Beutler E: Gaucher disease. Medicine (Baltimore) 1995,74:305-323. A detailed review focusing on the clinical aspects and biochemical genetics of Gaucher disease.
6. Grabowski GA, Saal HM, Wenstrup RJ, Barton NW: Gaucher disease: a prototype for molecular medicine. Crit Rev Oncol Hematol 1996, 23:25-55. A detailed review of Gaucher disease.
7. Horowitz M, Zimran A: Mutations causing Gaucher disease. Hum Mutat 1994, 3:1-11.
8. Beutler E, Gelbart T: Mutation update: glucocerebrosidase (Gaucher disease). Hum Mutat 1996, in press. A tabulation of mutations that have been described in Gaucher disease.
9. Beutler E, Gelbart T, Demina A, Zimran A, LeCoutre P: Five new Gaucher disease mutations. Blood Cells Mol Dis 1995, 21:20-24.
10. Beutler E, Gelbart T, Balicki D, Demina A, Adusumalli J, Elsas LJ, II, Grinzaid KA, Gitzelmann R, Superti- Furga A, Kattamis C, et al.: Gaucher disease: four families with previously undescribed mutations. Proc Assoc Am Phys 1996, 108:179-184.
11. Kim J-W, Liou BB, Lai M-Y, Ponce E, Grabowski GA: Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. Hum Mutat 1996, 7:214-218.
12. Walley AJ, Ellis I, Harris A: Three unrelated Gaucher's disease patients with three novel point mutations in the glucocerebrosidase gene (P266R, D315H and A318D). Br J Haematol 1995, 91:330-332.
13. Abrahamov A, Elstein D, Gross-Tsur V, Farber B, Glaser Y, Hada-Halpern I, Ronen S, Tafakjdi M, Horowitz M, Zimran A, et al.: Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. Lancet 1995, 346:1000-1003. Patients homozygous for the 1342C mutation manifest a unique syndrome characterized by oculomotor apraxia and calcification of heart valves.
14. Chabas A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, Mate I, Sobrino JA, Gonzalez-Duarte R, Vilageliu L: Unusual expression of Gaucher's disease: cardiovascular calcifications in three slbs homozygous for the D409H mutation. J Med Genet 1995, 32:740-742. This paper confirms the data presented by Abrahamov et al. (Lancet 1995, 346:1000-1003).
15. Beutler E, Kattamis C, Sipe J, Lipson M: The 1342C mutation in Gaucher's disease. Lancet 1995, 346:1637.
16. Mistry PK: Genotype/phenotype correlations in Gaucher's disease. Lancet 1995, 346:982. An editorial that discusses the possible reasons for the unique genotype found in the 1342C mutation and suggests that these patients be designated as having type 3 disease.
17. Patterson MC, Horowitz M, Abel RB, Currie JN, Yu K-T, Kaneski C, Higgins JJ, O'Neill RR, Fedio P, Pikus A, et al.: Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease. Neurology 1993, 43:1993-1997.
18. Sidransky E, Bottler A, Stubblefield B, Ginns EI: DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? Hum Mutat 1994, 3:25-28.
19. Beutler E, Gelbart T: Gaucher disease mutations In non-Jewish patients. Br J Haematol 1993, 85:401-405.
20. Ida H, Iwasawa K, Kawarne H, Rennert OM, Maekawa K, Eto Y: Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations. Hum Genet 1995, 95:717-720.
21. Nelson PV, Carey WF, Morris CP, Lewis BD: Mutation analysis of Australasian Gaucher disease patients. Am J Med Genet 1995, 58:382.
22. Michelakakis H, Dimitriou E, van Weely S, Boot RG, Mavridou I, Verhoek M, Aerts JMFG: Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies. J Inherit Metab Dis 1995, 18:609-615.
23. Beutler E, Demina A, Laubscher K, Garver P, Gelbart T, Balicki D, Vaughan L: The clinical course of treated and untreated Gaucher disease. A study of 45 patients. Blood Cells Mol Dis 1995, 21:86-108. A summary of 45 patients with Gaucher disease. Detailed data on organomegaly, blood counts, and skeletal changes are given. The study shows that the disease is not ordinarily progressive in adults and confirms, once again, that low doses of alglucerase have the same therapeutic effect as much more expensive high doses.
24. Zimran A, Kay AC, Gelbart T, Garver P, Saven A, Beutler E: Gaucher disease: clinical, laboratory, radiologic and genetic features of 53 patients. Medicine (Baltimore) 1992, 71:337-353.
25. Hollak CEM, van Weely S, van Oers MHJ, Aerts JMFG: Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 1994, 93:1288-1292.
26. Den Tandt WR, Van Hoof F: Marked increase of methylumbelliferyltetra-N-acetylchitotetraoside hydrolase activity In plasma from Gaucher disease patients. J Inherit Metab Dis 1996, 19:344-350.
27. Boot RG, Renkema GH, Strijland A, van Zonneveld AJ, Aerts HMFG: Cloning of a cDNA encoding chitotriosidase, a human chitinase produced by macrophages. J Biol Chem 1996, 270:26252-26256.
28. Katz K, Horev G, Grunebaum M, Yosipovitch Z: The natural history of osteonecrosis of the femoral head in children and adolescents who have Gaucher disease. J Bone Joint Surg Am 1996, 78:14-19.
29. Commens KL, Choong R, Jaworski R: Collodion babies with Gaucher's disease. Arch Dis Child 1988, 63:854-865.
30. Fujimoto A, Tayebi N, Sidransky E: Congenital ichthyosis preceding neurologic symptoms in two slbs with type 2 Gaucher disease. Am J Med Genet 1995, 59:356-358.
31. Sidransky E, Fartasch M, Lee RE, Metlay LA, Abella S, Zimran A, Gao W, Elias PM, Ginns EI, Holleran WM: Epidermal abnormalities may distingulsh type 2 from type 1 and type 3 of Gaucher disease. Pediatr Res 1996, 39:134-141.
32. Billett HH, Rizvi S, Sawitsky A: Coagulation abnormalities in patients with Gaucher's disease: effect of therapy. Am J Hematol 1996, 51:234-236.
33. Boklan BF, Sawitsky A: Factor IX deficiency in Gaucher disease. An in vitro phenomenon. Arch Intern Med 1976, 136:489-492.
34. Kerem E, Elstein D, Abrahamov A, Ziv YB, Hadas-Halpern I, Melzer E, Cahan C, Branski D, Zimran A: Pulmonary function abnormalities in type 1 Gaucher disease. Eur Respir J 1996, 9:340-345. Abnormalities in pulmonary function in Gaucher disease are becoming increasingly recognized. These occur even in patients who may not be symptomatic.
35. Pelini M, Boice D, O'Nail K, LaRocque J: Glucocerebrosidase treatment of type 1 Gaucher disease with severe pulmonary involvement Ann Intern Med 1994, 121:196-197.
36. Dawson A, Elias DJ, Rubenson D, Bartz S, Garver P, Kay AC, Bloor CM, Beutler E: Development of pulmonary hypertension after alglucerase therapy in two patients with hepatopulmonary syndrome complicating type 1 Gaucher disease. Ann Intern Med 1996, in press.
37. Morimura Y, Hojo H, Abe M, Wakasa H: Gaucher's disease, type 1 (adult type), with massive involvement of the kidneys and lungs. Virchows Arch Int J Pathol 1994, 425:537-540.
38. Bove KE, Daugherty C, Grabowski GA: Pathological findings in Gaucher disease type 2 patients following enzyme therapy. Hum Pathol 1995, 26:1040-1045.
39. Brady RO, Pentchev PG, Gal AE, Hibbert SR, Dekaban AS: Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease. N Engl J Med 1974, 291:989-993.
40. Beutler E: Enzyme replacement therapy. TIBS Rev 1981, 6:95-97.
41. Beutler E, Dale GL, Guinto E, Kuhl W: Enzyme replacement therapy in Gaucher's disease: preliminary clinical trial of a new enzyme preparation. Proc Natl Acad Sci U S A 1977, 74:4620-4623.
42. Hollak CEM, Goudsmit R, van Oers MHJ: Low-dose versus high-frequency regimens in Gaucher's disease. Lancet 1996, 347:406-407.
43. Hollak CEM, Aerts JMFG, Goudsmit R, Phoa SSKS, Ek M, van Weely S, Kr von dem Borne AEG, van Oers MHJ: Individualised low-dose alglucerase therapy for type 1 Gaucher's disease. Lancet 1995, 345:1474-1478. Only 15 U of fractionated alglucerase/kg body weight/mo were given to a group of patients with Gaucher disease. The carefully documented clinical response indicates that this dose is as effective as the nearly 10 times as large a dose often given. The authors recommend increasing the dose for those few patients who do not adequately respond. However, it is not clear that patients who respond slowly to small doses respond more rapidly to larger ones (see Beutler [Lancet 1995, 346:581-582]).
44. Bembi B, Zanatta M, Carrozzi M, Baralle F, Gornati R, Berra B, Agosti E: Enzyme replacement treatment in type 1 and type 3 Gaucher's disease, Lancet 1994, 344:1679-1682.
45. Beutler E: Economic malpractice in the treatment of Gaucher disease. Am J Med 1994, 97:1-2.
46. Zimran A, Elstein D, Kannai R, Zevin S, Hadas-Halpern I, Levy-Lahad E, Cohen Y, Horowitz M, Abrahamov A: Low-dose enzyme replacement therapy for Gaucher's disease: effects of age, sex, genotype, and clinical features on response to treatment Am J Med 1994, 97:3-13.
47. Beutler E, Figueroa M, Koziol J: Treatment of Gaucher's disease. N Engl J Med 1993, 328:1567.
48. Pastores GM, Sibille AR, Grabowski GA: Enzyme therapy In Gaucher disease type 1: dosage efficacy and adverse effects in thirty-three patients treated for 6 to 24 months. Blood 1993, 82:408-416.
49. Zevin S, Abrahamov A, Hadas-Halpern I, Kannai R, Levy-Lahad E, Horowitz M, Zimran A: Adult-type Gaucher disease in children: genetics, clinical features and enzyme replacement therapy. Q J Med 1993, 86:565-573.
50. Figueroa ML, Rosenbloom BE, Kay AC, Garver P, Thurston DW, Koziol JA, Gelbart T, Beutler E: A less costly regimen of alglucerase to treat Gaucher's disease. N Engl J Med 1992, 327:1632-1636.
51. Mistry PK, Davies S, Corfield A, Dixon AK, Cox TM: Successful treatment of bone marrow failure In Gaucher's disease with low-dose modified glucocerebrosldase. Q J Med 1992, 83:541-546.
52. Beutler E: Treatment regimens in Gaucher's disease. Lancet 1995,346:581-582. A commentary on the study by Hollack et al. (Lancet 1995, 345:1474-1478).
53. McCabe ERB, Fine BA, Golbus MS, Greenhouse JB, McGrath GL, New M, O'Brien WE, Rowley PT, Sly WS, Spence MA, et al.: Gaucher disease: current issues in diagnosis and treatment JAMA 1996, 275:548-553.
54. Moscicki RA, Taunton-Rigby A: Treatment of Gaucher's disease. N Engl J Med 1993, 328:1564.
55. Barranger JA: Editor's comments. Gaucher Clinical Perspectives 1993, 1:16.
56. Moscicki RA, Van Heek J: Ceredase dosing concerns for Gaucher's disease. Am J Med 1994, 4:402-403.
57. Rosenthal DI, Doppelt SH, Mankin HJ, Dambrosia JM, Xavier RJ, McKusick KA, Rosen BR, Baker J, Niklason LT, Hill SC, et al.: Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophagetargeted glucocerebrosidase. Pediatrics 1995, 96:629-637. Sophisticated measurements of skeletal changes of Gaucher disease indicate that large doses of alglucerase produce some improvement in the skeleton after several years. The authors imply that such large doses are necessary (but see report by Elstein et al. [Blood Cells Mol Dis 1996, 22:104-111]).
58. Elstein D, Hadas-Halpern I, Itzchaki M, Lahad A, Abrahamov A, Zimran A: Effect of low-dose enzyme replacement therapy on bones in Gaucher disease patients with severe skeletal involvement. Blood Cells Mol Dis 1996, 22:104-111. The effect of low-dose enzyme replacement therapy on the skeleton as measured by cortical bone thickness is quite comparable to the much larger doses recommended by Rosenthal et al. (Pediatrics 1995, 96:629-637). In patients who are not treated with alglucerase, no change in cortical bone thickness is observed.
59. Grabowski GA: Effect of low-dose enzyme replacement therapy on bones in Gaucher disease patients with severe skeletal involvement: commentary. Blood Cells Mol Dis 1996, 22:112.
60. Robinson ML, Craig C: Company retires $100M debt Genzyme's Ceredase hits financial constraints. BioWorld Today 1996, 7:1.
61. Beutler E: The cost of treating Gaucher disease. Nature Med 1996,2:523-524. A commentary on the problem of cost when a treatment is developed for a relatively small disease population. The high cost of such treatments poses a serious dilemma for society.
62. Cohen Y, Elstein D, Abrahamov A, Hirsch H, Zimran A: HCG contamination of alglucerase: clinical implications in low-dose regimen. Am J Hematol 1994, 47:235-236.
63. Karlsson S, Correll PH, Xu L: Gene transfer and bone marrow transplantation with special reference to Gaucher's disease. Bone Marrow Transplant 1993, 11(suppl 1):124-127.
64. Beutler E: Bone marrow transplantation beyond treatment of aplasia and neoplasia. West J Med 1994, 160:129-132.
65. Chan KW, Wong LTK, Applegarth D, Davidson AGF: Bone marrow transplantation in Gaucher's disease: effect of mixed chimeric state. Bone Marrow Transplant 1994, 14:327-330.
66. Ringdén O, Groth CG, Erikson A, Granqvist S, Mânsson J-E, Sparrelid E: Ten years' experience of bone marrow transplantation for Gaucher disease. Transplantation 1995, 59:864-870. The most up-to-date assessment of the results of marrow transplantation in the Nobottian type (type 3) Gaucher disease.
67. Freas-Lutz DL, Correll PH, Dougherty SF, Xu L, Pluznik DH, Karlsson S: Expression of human glucocerebrosidase in murine macrophages: Identification of efficient retroviral vectors. Exp Hematol 1994, 22:857-865.
68. Krall WJ, Challita PM, Perlmutter LS, Skelton DC, Kohn DB: Cells expressing human glucocerebrosidase from a retroviral vector repopulate macrophages and central nervous system microglia after murine bone marrow transplantation. Blood 1994, 83:2737-2748.
69. Mannion-Henderson J, Kemp A, Mohney T, Nimgaonkar M, Lancia J, Beeler MT, Mierski J, Bahnson AB, Ball ED, Barranger JA: Efficient retroviral mediated transfer of the glucocerebrosidase gene in CD34+ enriched umbilical cord blood human hematopoietic progenitors. Exp Hematol 1995, 23:1628-1632.
70. Wells S, Malik P, Pensiero M, Kohn DB, Nolta JA: The presence of an autologous marrow stromal cell layer increases glucocerebrosidase gene transduction of long-term culture initiating cells (LTCICs) from the bone marrow of a patient with Gaucher disease. Gene Therapy 1995, 2:512-520.
71. Xu L, Kluepfel-Stahl S, Blanco M, Schiffmann R, Dunbar C, Karlsson S: Growth factors and stromal support generate very efficient retroviral transduction of peripheral blood CD34+ cells from Gaucher patients. Blood 1995, 86:141-146.
72. Nimgaonkar M, Bahnson A, Kemp A, Lancia J, Mannion-Henderson J, Boggs S, Mohney T, Baysal B, Dunigan J, Barranger JA, et al.: Long-term expression of the glucocerebrosidase gene in mouse and human hematopoietic progenitors. Leukemia 1995, 9(suppl 1):S38-S42.
73. Wolfe JH, Schuchman EH, Stramm LE, Concaugh EA, Haskins ME, Aguirre GD, Patterson DF, Desnick RJ, Gilboa E: Restoration of normal lysosomal function In mucopolysaccharidosis type VII cells by retroviral vector-mediated gene transfer. Proc Natl Acad Sci U S A 1990, 87:2877-2881.
74. Dunbar C, Kohn D, Karlsson S, Barton N, Brady R, Cottler-Fox M, Crooks G, Emmons R, Esplin J, Leitman S, et al.: Retroviral mediated transfer of the cDNA for human glucocerebrosidase into hematopoietic stem cells of patients with Gaucher disease. A phase I study. Hum Gene Ther 1996, 7:231-253.
75. Aran JM, Gottesman MM, Pastan I: Drug-selected coexpression of human glucocerebrosidase and P-glycoprotein using a bicistronic vector. Proc Natl Acad Sci U S A 1994, 91:3176-3180.
76. Bansal V, Mowery-Rushton P, Lucht L, Li J, Bahnson A, Watkins SC, Barranger JA: Transduction, expression, and secretion of human glucocerebrosidase by murine myoblasts. Ann N Y Acad Sci 1994, 716:307-320.
77. Zhong W, Liggit D, Heath T, Tu G, Crader W, Beutler E, Debs R: Development of in vivo gene therapy for Gaucher disease. Clin Res 1995, 43:163a.
78. Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE, et al.: Replacement therapy for Inherited enzyme deficiency: macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 1991, 324:1464-1470.
79. Barton NW, Brady RO, Dambrosia JM: Treatment of Gaucher's disease. N Engl J Med 1993, 328:1564-1565.
80. Fallet S, Sibille A, Mendelson R, Shapiro D, Hermann G, Grabowski GA: Enzyme augmentation in moderate to life-threatening Gaucher disease. Pediatr Res 1992, 31:496-502.
81. Beutler E, Kay A, Saven A, Garver P, Thurston D, Dawson A, Rosenbloom B: Enzyme replacement therapy for Gaucher disease. Blood 1991, 78:1183-1189.
82. Kay AC, Saven A, Garver P, Thurston DW, Rosenbloom BF, Beutler E: Enzyme replacement therapy in type 1 Gaucher disease. Trans Assoc Am Phys 1991, 104:258-264.
83. Beutler E, Kay AC, Saven A, Garver P, Thurston DW: Enzyme replacement for Gaucher's disease. N Engl J Med 1991, 325:1809-1810.
84. Beutler E: Modern diagnosis and treatment of Gaucher's disease. Am J • Dis Child 1993, 147:1175-1183.
85. Grabowski GA, Barton NW, Pastores G, Dambrosia JM, Banerjee TK, McKee MA, Parker C, Schiffmann R, Hill SC, Brady RO: Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med 1995, 122:33-39.