Three cases of type I Gaucher disease
Clinics, diagnosis, molecular genetics and treatment
Keywords:
GAUCHER'S DISEASE, THERAPEUTIC USE OF ENZYMESAbstract
Type 1 Gaucher disease is an inherited autosomal recesive disorder, determined by a deficiency of the acid ß-glucosidase enzyme and macrophage lysosomal storage of glucosylceramide. Common symptoms are visceromegaly, bleeding, anemia and bone pain; there is no central nervous system commitment.
It could appear in childhood or adulthood and might be asymptomatic. Many mutations have been detected. It has symptomatic and specific treatment.
The presentation includes three non-relative cases in which the disease appeared during adulthood; clinical, biochemical, molecular and treatment aspects are analyzed. The importance of diagnosis is highlighted.
References
1) Beutler E, Grabowsky G. Gaucher Disease. In: Scriver CR, Beutler AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill, 2001: 3635-68, Vol III.
2) Beutler E. Gaucher’s Disease. N Engl J Med 1991; 325(19): 1354-60.
3) Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, et al. Gaucher disease type I: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 2004; 41(4 Suppl 5): 15-22.
4) Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, et al. The Gaucher Registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000; 160(18): 2835-43.
5) Charrow J, Esplin JA, Gribbe TJ, Kaplan P, Kolodny EH, Pastores GM, et al. Gaucher disease: recommendations on diagnosis, evaluation and monitoring. Arch Intern Med 1998; 158(16): 1754-60.
6) National Institute of Health Technology Assessment Conference Statements. Gaucher disease: current issues in diagnosis and treatment. JAMA 1996; 275(7): 548-53.
7) Amato D, Stachiw T, Clarke JT, Rivard GE. Gaucher disease: variability in phenotype among siblings. J Inherit Metab Dis 2004; 27(5): 659-69.
8) Sidransky E, Tayebi N, Ginns EI. Diagnosing Gaucher disease. Early recognition, implications for treatment and genetics counseling. Clin Pediatr (Phila) 1995; 34(7): 365-71.
9) Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type I Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med 2002; 113(2): 112-9.
10) Balicki D, Beutler E. Gaucher Disease. Medicine (Baltimore) 1995; 74(6): 305-23.
11) Pastores GM, Patel MJ, Firooznia H. Bone and joint complications related to Gaucher disease. Curr Rheumatol Rep 2000; 2(2): 175-80.
12) Zimran A, Kay A, Gelbart T, Garver P, Thurston D, Saven A, et al. Gaucher disease: clinical, laboratory, radiology and genetics features of 53 patients. Medicine (Baltimore) 1992; 71(6): 337-53.
13) Wenstrup RJ, Roca-Espiau M, Weinreb NJ, Bembi B. Skeletal aspect of Gaucher disease: a review. Br J Radiol 2002; 75(Suppl 1):A2-12.
14) Zlotogora J, Sagi M, Zeigler M, Bach G. Gaucher disease type I and pregnancy. Am J Med Genet 1989; 32(4): 475-7.
15) Alterini R, Rigacci L, Stefanacci S. Pseudo-Gaucher cells in bone marrow of patients with centricity nodular non-Hodgking’s lymphoma. Haematologica 1996; 81(3): 282-3.
16) Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E. High frequency of the Gaucher disease mutation at nucleotide 1226 among the Ashkenazi Jews. Am J Hum Genet 1991; 49(4): 855-9.
17) Varkonyi J, Rosenbaum H, Baumann N, MacKenzie JJ, Simon Z, Aharon-Peretz J, et al. Gaucher disease associated with parkinsonism: four further case reports. Am J Med Genet A 2003; 116(4): 348-51.
18) Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, et al. Replacement therapy for inherited enzyme deficiency macrophage targeted glucocerebrosidase for Gaucher ‘s disease. N Engl J Med 1991; 324(21): 1464-70.
2) Beutler E. Gaucher’s Disease. N Engl J Med 1991; 325(19): 1354-60.
3) Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, et al. Gaucher disease type I: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 2004; 41(4 Suppl 5): 15-22.
4) Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, et al. The Gaucher Registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000; 160(18): 2835-43.
5) Charrow J, Esplin JA, Gribbe TJ, Kaplan P, Kolodny EH, Pastores GM, et al. Gaucher disease: recommendations on diagnosis, evaluation and monitoring. Arch Intern Med 1998; 158(16): 1754-60.
6) National Institute of Health Technology Assessment Conference Statements. Gaucher disease: current issues in diagnosis and treatment. JAMA 1996; 275(7): 548-53.
7) Amato D, Stachiw T, Clarke JT, Rivard GE. Gaucher disease: variability in phenotype among siblings. J Inherit Metab Dis 2004; 27(5): 659-69.
8) Sidransky E, Tayebi N, Ginns EI. Diagnosing Gaucher disease. Early recognition, implications for treatment and genetics counseling. Clin Pediatr (Phila) 1995; 34(7): 365-71.
9) Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type I Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med 2002; 113(2): 112-9.
10) Balicki D, Beutler E. Gaucher Disease. Medicine (Baltimore) 1995; 74(6): 305-23.
11) Pastores GM, Patel MJ, Firooznia H. Bone and joint complications related to Gaucher disease. Curr Rheumatol Rep 2000; 2(2): 175-80.
12) Zimran A, Kay A, Gelbart T, Garver P, Thurston D, Saven A, et al. Gaucher disease: clinical, laboratory, radiology and genetics features of 53 patients. Medicine (Baltimore) 1992; 71(6): 337-53.
13) Wenstrup RJ, Roca-Espiau M, Weinreb NJ, Bembi B. Skeletal aspect of Gaucher disease: a review. Br J Radiol 2002; 75(Suppl 1):A2-12.
14) Zlotogora J, Sagi M, Zeigler M, Bach G. Gaucher disease type I and pregnancy. Am J Med Genet 1989; 32(4): 475-7.
15) Alterini R, Rigacci L, Stefanacci S. Pseudo-Gaucher cells in bone marrow of patients with centricity nodular non-Hodgking’s lymphoma. Haematologica 1996; 81(3): 282-3.
16) Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E. High frequency of the Gaucher disease mutation at nucleotide 1226 among the Ashkenazi Jews. Am J Hum Genet 1991; 49(4): 855-9.
17) Varkonyi J, Rosenbaum H, Baumann N, MacKenzie JJ, Simon Z, Aharon-Peretz J, et al. Gaucher disease associated with parkinsonism: four further case reports. Am J Med Genet A 2003; 116(4): 348-51.
18) Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, et al. Replacement therapy for inherited enzyme deficiency macrophage targeted glucocerebrosidase for Gaucher ‘s disease. N Engl J Med 1991; 324(21): 1464-70.
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Published
2006-03-31
How to Cite
1.
Lemes A, Murieda B, Gabus R, Roselli MJ, Larrandaburu M, Vaglio A. Three cases of type I Gaucher disease: Clinics, diagnosis, molecular genetics and treatment. Rev. Méd. Urug. [Internet]. 2006 Mar. 31 [cited 2024 Sep. 16];22(1):73-7. Available from: https://revista.rmu.org.uy/index.php/rmu/article/view/787
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