Tres casos de enfermedad de Gaucher tipo I
Clínica, diagnóstico, genética molecular y tratamiento actual
Palabras clave:
ENFERMEDAD DE GAUCHER, USO TERAPÉUTICO DE ENZIMAS
Resumen
La enfermedad de Gaucher tipo I es una afección de herencia autosómica recesiva determinada por deficiencia de actividad de la enzima b-glucosidasa ácida y acúmulo progresivo de glicosilceramida en los lisosomas de células macrofágicas. No tiene compromiso primario del sistema nervioso central, siendo sus síntomas habituales visceromegalias, sangrado, anemia y dolores óseos. Puede presentarse desde la edad pediátrica hasta el adulto mayor o permanecer asintomática. Han sido identificadas numerosas mutaciones, algunas muy frecuentes. Tiene tratamiento sintomático y específico. Presentamos tres casos de inicio en edad adulta, no emparentados entre sí y sin padres consanguíneos, analizando aspectos clínicos, bioquímicos, moleculares y de tratamiento actual. Destacamos la importancia del diagnóstico de esta enfermedad genética que tiene pautas de seguimiento y tratamiento específico.
Citas
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.
Publicado
2006-03-31
Cómo citar
1.
Lemes A, Murieda B, Gabus R, Roselli MJ, Larrandaburu M, Vaglio A. Tres casos de enfermedad de Gaucher tipo I. Rev. Méd. Urug. [Internet]. 31 de marzo de 2006 [citado 23 de noviembre de 2024];22(1):73-7. Disponible en: http://www2.rmu.org.uy/ojsrmu311/index.php/rmu/article/view/787
Sección
Casos Clínicos
